Category Archives: Genetic Medicine

It was either die or do this transplant, Mr. Bennett said before the surgery, according to officials at the University of Maryland Medical Center. I want to live. I know its a shot in the dark, but its my last choice.

Dr. Griffith said he first broached the experimental treatment in mid-December, a memorable and pretty strange conversation.

I said, We cant give you a human heart; you dont qualify. But maybe we can use one from an animal, a pig, Dr. Griffith recalled. Its never been done before, but we think we can do it.

I wasnt sure he was understanding me, Dr. Griffith added. Then he said, Well, will I oink?

Xenotransplantation, the process of grafting or transplanting organs or tissues from animals to humans, has a long history. Efforts to use the blood and skin of animals go back hundreds of years.

In the 1960s, chimpanzee kidneys were transplanted into some human patients, but the longest a recipient lived was nine months. In 1983, a baboon heart was transplanted into an infant known as Baby Fae, but she died 20 days later.

Pigs offer advantages over primates for organ procurements, because they are easier to raise and achieve adult human size in six months. Pig heart valves are routinely transplanted into humans, and some patients with diabetes have received porcine pancreas cells. Pig skin has also been used as a temporary graft for burn patients.

Two newer technologies gene editing and cloning have yielded genetically altered pig organs less likely to be rejected by humans. Pig hearts have been transplanted successfully into baboons by Dr. Muhammad Mohiuddin, a professor of surgery at University of Maryland School of Medicine who established the cardiac xenotransplantation program with Dr. Griffith and is its scientific director. But safety concerns and fear of setting off a dangerous immune response that can be life-threatening precluded their use in humans until recently.

See the original post here:
In a First, Man Receives a Heart From a Genetically Altered Pig - The New York Times

Four years ago, a small Philadelphia biotech company won U.S. approval for the first gene therapy to treat an inherited disease, a landmark after decades of research aimed at finding ways to correct errors in DNA.

Since then, most of the world's largest pharmaceutical companies have invested in gene therapy, as well as cell therapies that rely on genetic modification. Dozens of new biotech companies have launched, while scientists have taken forward breakthroughs in gene editing science to open up new treatment possibilities.

But the confidence brought on by such advances has also been tempered by safety setbacks and clinical trial results that fell short of expectations. In 2022, the outlook for the field remains bright, but companies face critical questions that could shape whether, and how soon, new genetic medicines reach patients. Here are five:

Food and Drug Administration approval of Spark Therapeutics' blindness treatment Luxturna a first in the U.S. came in 2017. A year and a half later, Novartis' spinal muscular atrophy therapy Zolgensma won a landmark OK.

But none have reached market since, with treatments from BioMarin Pharmaceutical and Bluebird bio unexpectedly derailed or delayed.

That could change in 2022. Two of Bluebird's treatments, for the blood disease beta thalassemia and a rare brain disorder, are now under review by the FDA, with target decision dates in May and June. BioMarin, after obtaining more data for its hemophilia A gene therapy, plans to soon approach the FDA about resubmitting an application for approval.

Others, such as CSL Behring and PTC Therapeutics, are also currently planning to file their experimental gene therapies with the FDA in 2022.

Approvals, should they come, could provide important validation for their makers and expand the number of patients for whom genetic medicines are an option. In biotech, though, approvals aren't the end of the road, but rather the mark of a sometimes challenging transition from research to commercial operations. With price tags expected to be high, and still outstanding questions around safety and long-term benefit, new gene therapies may prove difficult to sell.

A record $20 billion flowed into gene and cell therapy developers in 2020, significantly eclipsing the previous high-water mark set in 2018.

Last year, the bar was set higher still, with a total of $23 billion invested in the sector, according to figures compiled by the Alliance for Regenerative Medicine. About half of that funding went toward gene therapy developers specifically, with a similar share going to cell-based immunotherapy makers.

Driving the jump was a sharp increase in the amount of venture funding, which rose 73% to total nearly $10 billion, per ARM. Initial public offerings also helped, with sixteen new startups raising at least $50 million on U.S. markets.

Entering 2022, the question facing the field is whether those record numbers will continue. Biotech as a whole slumped into the end of last year, with shares of many companies falling amid a broader investment pullback. Gene therapy developers, a number of which had notable safety concerns crop up over 2021, were hit particularly hard.

Moreover, many startups that jumped to public markets hadn't yet begun clinical trials roughly half of the 29 gene and cell therapy companies that IPO'd over the past two years were preclinical, according to data compiled by BioPharma Dive. That can set high expectations companies will be hard pressed to meet.

Generation Bio, for example, raised $200 million in June 2020 with a pipeline of preclinical gene therapies for rare diseases of the liver and eye. Unexpected findings in animal studies, however, sank company shares by nearly 60% last December.

Still, the pace of progress in gene and cell therapy is fast. The potential is vast, too, which could continue to support high levels of investment.

"I think fundamentally, investment in this sector is driven by scientific advances, and clinical events and milestones," said Janet Lambert, ARM's CEO, in an interview. "And I think we see those in 2022."

The potential of replacing or editing faulty genes has been clear for decades. How to do so safely has been much less certain, and concerns on that front have set back the field several times.

"Safety, safety and safety are the first three top-of-mind risks," said Luca Issi, an analyst at RBC Capital Markets, in an interview.

Researchers have spent years making the technology that underpins gene therapy safer and now have a much better understanding of the tools at their disposal. But as dozens of companies push into clinical trials, a number of them have run into safety problems that raise crucial questions for investigators.

In trials run by Audentes Therapeutics and by Pfizer (in separate diseases), study volunteers have tragically died for reasons that aren't fully understood. UniQure, Bluebird bio and, most recently, Allogene Therapeutics have reported cases of cancer or worrisome genetic abnormalities that triggered study halts and investigations.

While the treatments being tested were later cleared in the three latter cases, the FDA was sufficiently alarmed to convene a panel of outside experts to review potential safety risks last fall. (Bluebird recently disclosed a new hold in a study of its sickle cell gene therapy due to a patient developing chronic anemia.)

The meeting was welcomed by some in the industry, who hope to work with the FDA to better detail known risks and how to avoid them in testing.

"[There's] nothing better than getting people together and talking about your struggles, and having FDA participate in that," said Ken Mills, CEO of gene therapy developer Regenxbio, in an interview. "The biggest benefit probably is for the new and emerging teams and people and companies that are coming into this space."

Safety scares and setbacks are likely to happen again, as more companies launch additional clinical trials. The FDA, as the recent meeting and clinical holds have shown, appears to be carefully weighing the potential risks to patients.

But, notably, there hasn't been a pullback from pursuing further research, as has happened in the past. Different technologies and diseases present different risks, which regulators, companies and the patient community are recognizing.

"We're by definition pushing the scientific envelope, and patients that we seek to treat often have few or no other treatment options," said ARM's Lambert.

Last June, Intellia Therapeutics disclosed early results from a study that offered the first clinical evidence CRISPR gene editing could be done safely and effectively inside the body.

The data were a major milestone for a technology that's dramatically expanded the possibility for editing DNA to treat disease. But the first glimpse left many important questions unanswered, not least of which are how long the reported effects might last and whether they'll drive the kind of dramatic clinical benefit gene editing promises.

Intellia is set to give an update on the study this quarter, which will start to give a better sense of how patients are faring. Later in the year the company is expecting to have preliminary data from an early study of another "in vivo" gene editing treatment.

In vivo gene editing is seen as a simpler approach that could work in more diseases than treatments that rely on stem cells extracted from each patient. But it's also potentially riskier, with the editing of DNA taking place inside the body rather than in a laboratory.

Areas like the eye, which is protected from some of the body's immune responses, have been a common first in vivo target by companies like Editas Medicine. But Intellia and others are targeting other tissues like the liver, muscle and lungs.

Later this year, Verve Therapeutics, a company that uses a more precise form of gene editing called base editing, plans to treat the first patient with an in vivo treatment for heart disease (which targets a gene expressed in the liver.)

"The future of gene editing is in vivo," said RBC's Issi. His view seems to be shared by Pfizer, which on Monday announced a $300 million research deal with Beam Therapeutics to pursue in vivo gene editing targets in the liver, muscle and central nervous system.

With more and more cell and gene therapy companies launching, the pipeline of would-be therapies has grown rapidly, as has the number of clinical trials being launched.

Yet, many companies are exploring similar approaches for the same diseases, resulting in drug pipelines that mirror each other. A September 2021 report from investment bank Piper Sandler found 21 gene therapy programs aimed at hemophilia A, 19 targeting Duchenne muscular dystrophy and 18 going after sickle cell disease.

In gene editing, Intellia, Editas, Beam and CRISPR Therapeutics are all developing treatments for sickle cell disease, with CRISPR the furthest along.

As programs advance and begin to deliver more clinical data, companies may be forced into making hard choices.

"[W]e think investors will place greater scrutiny as programs enter the clinic and certain rare diseases are disproportionately pursued," analysts at Stifel wrote in a recent note to investors, citing Fabry disease and hemophilia in particular.

This January, for example, Cambridge, Massachusetts-based Avrobio stopped work on a treatment for Fabry that was, until that point, the company's lead candidate. The decision was triggered by unexpected findings that looked different than earlier study results, but Avrobio also cited "multiple challenging regulatory and market dynamics."

Originally posted here:
5 questions facing gene therapy in 2022 - BioPharma Dive

Abstract: Global Direct-to-Consumer (DTC) Genetic Testing Market to Reach US$1. 9 Billion by the Year 2026 . Genomic testing is a revolutionary tool and offers a broad range of applications such as diagnosis of infectious diseases, treatment selection for cancer patients, non-invasive prenatal testing, among others.

New York, Jan. 14, 2022 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Global Direct-to-Consumer (DTC) Genetic Testing Industry" - https://www.reportlinker.com/p05442614/?utm_source=GNW Growth in the global is being driven by new technological advances and rising prevalence of many genetic disorders such as diabetes, cancer, cystic fibrosis, and Alzheimer`s disease globally. Factors such as real time drug discovery, cutting-edge diagnostic methods, and advanced treatments will propel market growth. Increasing user awareness, disposable income, and healthcare expenditure combined with rising adoption of customized medicine to treat genetic disease are other factors driving growth in the market. Public awareness regarding the availability of DTC genetic testing in developing as well as developed countries is continually rising. Leading market players like Ancestry and 23andMe are focusing on offering high-quality DTC genetic testing solutions that ensure accurate and effective test results. Growing awareness among Europeans and Americans regarding racial testing is also driving market demand. Another key driver in the DTC genetic testing market includes elderly consumers who take a keen interest in their healthcare, which is intensified by access to genetic test kits that can detect genes whose variations are associated with an increased risk of developing an age-related disease such as Alzheimer`s.

Amid the COVID-19 crisis, the global market for Direct-to-Consumer (DTC) Genetic Testing estimated at US$971.7 Million in the year 2020, is projected to reach a revised size of US$1.9 Billion by 2026, growing at a CAGR of 12.3% over the analysis period. Ancestry & Relationship Testing, one of the segments analyzed in the report, is projected to grow at a 9.8% CAGR to reach US$915.4 Million by the end of the analysis period. After a thorough analysis of the business implications of the pandemic and its induced economic crisis, growth in the Nutrigenomics Testing segment is readjusted to a revised 13.6% CAGR for the next 7-year period. This segment currently accounts for a 21% share of the global Direct-to-Consumer (DTC) Genetic Testing market. Ancestry & relationship testing is the most prevalent test type, and the segment is slated to benefit from recent advances that are likely to link ancestry testing with health-related genetic testing. Nutrigenomics testing is used by healthcare professionals to suggest personalized diet and nutritional guidance to overweight people to maintain a healthy lifestyle and manage weight. The segment`s growth is propelled by rising prevalence of obesity and increasing R&D related to nutritional aspects.

The U.S. Market is Estimated at $440.2 Million in 2021, While China is Forecast to Reach $149.8 Million by 2026

The Direct-to-Consumer (DTC) Genetic Testing market in the U.S. is estimated at US$440.2 Million in the year 2021. The country currently accounts for a 43% share in the global market. China, the world`s second largest economy, is forecast to reach an estimated market size of US$149.8 Million in the year 2026 trailing a CAGR of 15.2% through the analysis period. Among the other noteworthy geographic markets are Japan and Canada, each forecast to grow at 11.3% and 13.1% respectively over the analysis period. Within Europe, Germany is forecast to grow at approximately 12.6% CAGR while Rest of European market (as defined in the study) will reach US$170.8 Million by the end of the analysis period. The US dominates market growth due to the increased awareness about genetic diseases among general populace, growing tendency among general public to identify early and either prevent or provide management of various chronic diseases as well as technical and scientific advancements made in the field of medicine and science in general. Additionally, the regulatory mechanism in the US is relatively better streamlined compared to other markets. Europe represents the next leading market for DTC genetic testing. The market is fueled by increasing healthcare spending by various governments to ensure easy access to advanced genetic tests.

Predictive Testing Segment to Reach $373.2 Million by 2026

The predictive testing market is recording strong growth, driven by exponential growth in the number of diseases and medical conditions that are identifiable through genetic modalities, surging from a mere 90-100 diseases in the early 1990s, to about 1,800 to 2,000 conditions in the present day. In the global Predictive Testing segment, USA, Canada, Japan, China and Europe will drive the 16.1% CAGR estimated for this segment. These regional markets accounting for a combined market size of US$134.3 Million in the year 2020 will reach a projected size of US$371 Million by the close of the analysis period. China will remain among the fastest growing in this cluster of regional markets. Led by countries such as Australia, India, and South Korea, the market in Asia-Pacific is forecast to reach US$20.3 Million by the year 2026.

Select Competitors (Total 81 Featured)

Story continues

23andMe, Inc.

Ancestry.com, LLC

Any Lab Test Now

Color Health, Inc.

Direct Laboratory Services, LLC

DNA Diagnostics Center

Easy DNA

Full Genomes Corporation, Inc.

Gene by Gene, Ltd.

Genesis Healthcare

Helix OpCo LLC

Laboratory Corporation of America Holdings

Living DNA

Mapmygenome India Limited

MyHeritage

OmeCare

Positive Bioscience, Inc.

Quest Diagnostics, Inc.

Request A Test, Ltd.

Sonora Quest Laboratories LLC

Xcode Life Sciences

Read the full report: https://www.reportlinker.com/p05442614/?utm_source=GNW

I. METHODOLOGY

II. EXECUTIVE SUMMARY

1. MARKET OVERVIEW A Prelude to Genetic Testing Top Ten Genetic Diseases Worldwide Different Types of Genetic Tests include List of Genetic Disorders by Event, Genetic Manifestation and Prevalence A Prelude to Direct-to-Consumer (DTC) Genetic Testing Pros and Cons of Direct-to-Consumer (DTC) Genetic Testing Health Information provided by DTC genetic Tests DTC Genetic Tests? Limitations Market Segments Ancestry Tests Predictive Tests Carrier Tests Nutrigenomics Tests Impact of Covid-19 on Market Prospects of DTC Genetic Testing Market Prospects and Outlook US and Europe Dominate the Global DTC Genetic Tests Market Ancestry Testing Holds Major Share, Predictive Testing Witnesses Rapid Growth Competitive Scenario Recent Market Activity Changing Landscape of DTC Genetic Testing Regulations to Determine Market Viability Regulating DTC Genomic Testing in the UK Data Privacy Concerns to Challenge Market Prospects

2. FOCUS ON SELECT PLAYERS

3. MARKET TRENDS & DRIVERS Consumers Self-Managing Treatments: The New Trend Driving the DTC Genetic Testing Market DTC Genetic Testing Players Join War against COVID-19 DTC Genetic Tests for Cancer Susceptibility EXHIBIT 1: Worldwide Breast Cancer Incidence and Mortality Rates by Region: 2018 Advances in Genome Sequencing Next-Generation Sequencing (NGS) Aids DTC Genetic Testing Market DTC Genetic Testing Presents Lucrative Personalization Opportunities Growing Focus on Service Personalization Generates Opportunities for DTC Genetic Tests Immense Popularity of Ancestry Testing Emergence of DNA-based Nutrition Plans Put the Spotlight on DTC Nutrigenetics Testing Biomarker Discovery Leads to Advanced Genetic Testing Select List of Available Tumor Markers Hybrid Approach of Genetic Testing to Bridge Gap Between Traditional and DTC Models Oncology - A Key Focus Area for Genetic Testing EXHIBIT 2: Global Cancer Incidence: Number of New Cancer Cases in Million for the Years 2018, 2020, 2025, 2030, 2035 and 2040 Ageing Demographics to Drive Demand for Genetic Testing EXHIBIT 3: Expanding Elderly Population Worldwide: Breakdown of Number of People Aged 65+ Years in Million by Geographic Region for the Years 2019 and 2030 Increased Demand for Online Sales of DTC Genetic Tests Use of Artificial Intelligence Adds Value to DTC Genetic Testing Market

4. GLOBAL MARKET PERSPECTIVE Table 1: World Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 2: World Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 3: World 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets for Years 2015, 2021 & 2027

Table 4: World Current & Future Analysis for Ancestry & Relationship Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 5: World Historic Review for Ancestry & Relationship Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 6: World 12-Year Perspective for Ancestry & Relationship Testing by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

Table 7: World Current & Future Analysis for Nutrigenomics Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 8: World Historic Review for Nutrigenomics Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 9: World 12-Year Perspective for Nutrigenomics Testing by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

Table 10: World Current & Future Analysis for Predictive Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 11: World Historic Review for Predictive Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 12: World 12-Year Perspective for Predictive Testing by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

Table 13: World Current & Future Analysis for Carrier Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 14: World Historic Review for Carrier Testing by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 15: World 12-Year Perspective for Carrier Testing by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

Table 16: World Current & Future Analysis for Other Test Types by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 17: World Historic Review for Other Test Types by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 18: World 12-Year Perspective for Other Test Types by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

Table 19: World Current & Future Analysis for Single Nucleotide Polymorphism (SNP) Chips by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 20: World Historic Review for Single Nucleotide Polymorphism (SNP) Chips by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 21: World 12-Year Perspective for Single Nucleotide Polymorphism (SNP) Chips by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

Table 22: World Current & Future Analysis for Targeted Analysis by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 23: World Historic Review for Targeted Analysis by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 24: World 12-Year Perspective for Targeted Analysis by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

Table 25: World Current & Future Analysis for Whole Genome Sequencing (WGS) by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 26: World Historic Review for Whole Genome Sequencing (WGS) by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 27: World 12-Year Perspective for Whole Genome Sequencing (WGS) by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

Table 28: World Current & Future Analysis for Online by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 29: World Historic Review for Online by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 30: World 12-Year Perspective for Online by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

Table 31: World Current & Future Analysis for Over-the-Counter by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2020 through 2027 and % CAGR

Table 32: World Historic Review for Over-the-Counter by Geographic Region - USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 33: World 12-Year Perspective for Over-the-Counter by Geographic Region - Percentage Breakdown of Value Revenues for USA, Canada, Japan, China, Europe, Asia-Pacific and Rest of World for Years 2015, 2021 & 2027

III. MARKET ANALYSIS

UNITED STATES Market Facts Paradigm Shift amongst Consumers Spurring DTC Genetic Testing Market List of Direct-To-Consumer Genetic Tests with FDA Marketing Authorization California to Propose Stringent Legislation for DTC Genetic Testing Providers DTC Genetic Testing - A Highly Competitive Market Regulatory Scenario in US DTC Genetic Testing Market Timeline of Major Events in the US Consumer Genomics Regulations Regulatory Authorities Involved in Regulating DTC Genetics Testing Market Food and Drug Administration A Brief Glance on FDA Controls on DTC Genetic Testing Federal Trade Commission Centers for Medicare and Medicaid Services Patent and Trademark Office The Genetic Information Nondiscrimination Act (GINA) Market Analytics Table 34: USA Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 35: USA Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 36: USA 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Percentage Breakdown of Value Revenues for Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types for the Years 2015, 2021 & 2027

Table 37: USA Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Technology - Single Nucleotide Polymorphism (SNP) Chips, Targeted Analysis and Whole Genome Sequencing (WGS) - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 38: USA Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Technology - Single Nucleotide Polymorphism (SNP) Chips, Targeted Analysis and Whole Genome Sequencing (WGS) Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 39: USA 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Technology - Percentage Breakdown of Value Revenues for Single Nucleotide Polymorphism (SNP) Chips, Targeted Analysis and Whole Genome Sequencing (WGS) for the Years 2015, 2021 & 2027

Table 40: USA Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Distribution Channel - Online and Over-the-Counter - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 41: USA Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Distribution Channel - Online and Over-the-Counter Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 42: USA 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Distribution Channel - Percentage Breakdown of Value Revenues for Online and Over-the-Counter for the Years 2015, 2021 & 2027

CANADA Table 43: Canada Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 44: Canada Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 45: Canada 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Percentage Breakdown of Value Revenues for Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types for the Years 2015, 2021 & 2027

Table 46: Canada Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Technology - Single Nucleotide Polymorphism (SNP) Chips, Targeted Analysis and Whole Genome Sequencing (WGS) - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 47: Canada Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Technology - Single Nucleotide Polymorphism (SNP) Chips, Targeted Analysis and Whole Genome Sequencing (WGS) Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 48: Canada 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Technology - Percentage Breakdown of Value Revenues for Single Nucleotide Polymorphism (SNP) Chips, Targeted Analysis and Whole Genome Sequencing (WGS) for the Years 2015, 2021 & 2027

Table 49: Canada Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Distribution Channel - Online and Over-the-Counter - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 50: Canada Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Distribution Channel - Online and Over-the-Counter Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 51: Canada 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Distribution Channel - Percentage Breakdown of Value Revenues for Online and Over-the-Counter for the Years 2015, 2021 & 2027

JAPAN Table 52: Japan Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 53: Japan Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 54: Japan 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Percentage Breakdown of Value Revenues for Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types for the Years 2015, 2021 & 2027

Table 55: Japan Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Technology - Single Nucleotide Polymorphism (SNP) Chips, Targeted Analysis and Whole Genome Sequencing (WGS) - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 56: Japan Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Technology - Single Nucleotide Polymorphism (SNP) Chips, Targeted Analysis and Whole Genome Sequencing (WGS) Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 57: Japan 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Technology - Percentage Breakdown of Value Revenues for Single Nucleotide Polymorphism (SNP) Chips, Targeted Analysis and Whole Genome Sequencing (WGS) for the Years 2015, 2021 & 2027

Table 58: Japan Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Distribution Channel - Online and Over-the-Counter - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 59: Japan Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Distribution Channel - Online and Over-the-Counter Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 60: Japan 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Distribution Channel - Percentage Breakdown of Value Revenues for Online and Over-the-Counter for the Years 2015, 2021 & 2027

CHINA Table 61: China Current & Future Analysis for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types - Independent Analysis of Annual Revenues in US$ Thousand for the Years 2020 through 2027 and % CAGR

Table 62: China Historic Review for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types Markets - Independent Analysis of Annual Revenues in US$ Thousand for Years 2015 through 2019 and % CAGR

Table 63: China 12-Year Perspective for Direct-to-Consumer (DTC) Genetic Testing by Test Type - Percentage Breakdown of Value Revenues for Ancestry & Relationship Testing, Nutrigenomics Testing, Predictive Testing, Carrier Testing and Other Test Types for the Years 2015, 2021 & 2027

Link:
Global Direct-to-Consumer (DTC) Genetic Testing Market to Reach US$1.9 Billion by the Year 2026 - Yahoo Finance

Its been almost two years since the beginning of the global COVID-19 pandemic, which changed the way we think about a lot of things, including healthcare. Millions of doctors, patients, and researchers have had to adapt to the new reality often with the help from innovative tech companies.

The lockdowns have accelerated many changes in the healthtech industry, from the acceptance of telehealth to new ways of vaccine research and development. With that, along came the money: the largest 15 funding rounds were looking at today amounted to some 2.3 billion.

Although the industry didnt see as many megarounds as, say, fintech, its performed strongly last year and showed a diverse set of companies in terms of both products and geography.

Same as deeptech, healthtech is a broad industry that lacks a universal definition. In our overview, were trying to focus on healthtech and medtech verticals but purposely omitting companies mainly involved in traditional pharmaceutics, biotech, and therapeutics.

With that out of the way, lets embark on a European-wide journey through the top 15 European healthtech funding rounds raised in 2021.

Zrich-based Oviva raised an $80 million Series C round in September, which had brought the total amount invested into the company to $115 million. The round was co-led by Sofina and Temasek.

Ovivas product is a platform that includes personal diet coaching via a mobile app and direct access to certified dieticians. As of the time of the announcement, the service had helped more than 200,000 people and struck partnership agreements with over 5,000 European health systems, insurers, and doctors.

Another $80 million went into the war chest of Beckley Psytech in August. The Oxford-based startup is working on developing medicines that leverage psychedelic compounds to help people suffering from neurological and psychiatric disorders.

Beckley Psytech planned to use the money to further its work on several trials, including using low-dose psylocybin to treat SUNHA (a rare debilitating headache condition) and creating an intranasal formulation of 5-MeO-DMT.

Ada Health, Berlin-based self-care healthtech startup, secured $90 million from Leaps by Bayer, the impact investment arm of the pharma giant Bayer AG. The round, announced in May, was earmarked to be used to improve the Ada Health app and strengthen the companys position in the US.

Launched in 2016, the company was co-founded by a former NHS doctor Claire Novorol, whom we interviewed for Tech.eu Podcast earlier. Its AI-assisted app helps patients to understand their symptoms and identify conditions; simply speaking, its a healthy alternative to googling your symptoms. More than 11 million people have used the app since it launched.

Cambridge-based human cell coding company bit.bio landed $103 million in a Series B funding round in November. The capital injection came from Arch Ventures, Charles River Laboratories, Foresite Capital, Resilience, Metaplanet, Puhua Capital, and Tencent.

Bit.bio will use the funding to keep working on its cell coding technology named OPTi-OX. According to the company, it can enable a new generation of cell therapies, providing the best human cells for research and drug discovery, and allowing the control of advanced synthetic biology circuits for biomanufacturing.

Medical device startup CeQur headquartered in Lucerne, Switzerland received $115 million in April, in a round led by Credit Suisse Entrepreneur Capital and Endeavour Vision.

The main product of the company is CeQur Simplicity, a wearable discreet insulin delivery system. Simply speaking, Simplicity is a thick patch that contains enough insulin for nine mealtime injections which would normally last a person with diabetes for three days. The company is planning to make the device available for end users this year.

London-based Touchlight raised $125 million in September from Bridford Investments Limited and Novator Partners, with participation from existing investors. The company produces synthetic DNA for a wide range of uses, from genetic medicine development to new coronavirus vaccines.

Unlike the traditional method, where DNA is grown in a bioreactor, Touchlight produces it using enzymes. According to the company, this methord reduces the likelihood of developing antibiotic resistance, and scales more easily.

In May, Leaps by Bayer and Hitachi Ventures led a $130 million Series C round for UK-based Huma. The startup has developed a digital platform, where patients can share their health-related updates like heart rate, oxygen levels, or symptopms with clinicians. The system works both for general healthcare and clinical trials.

At the time of the announcement, Huma employed 150 people and was actively growing its headcount. The company said itd use the funding to further develop its products, and ultimately start an expansion into new geographies.

Paris-founded DentalMonitoring allegedly became the first dental software unicorn after raising a $150 million investment in October. Mrieux Equity Partners contributed $90 million, while the rest came from Vitruvian Partners.

As of the time of the announcement, more than 1 million people took photos of their oral cavities and sent them to their dentists via DentalMonitorings platform. The company has developed a family of virtual dental practice solutions, from virtual consultations to AI-assisted remote monitoring.

Berlin-based Atai Life Sciences backed by Peter Thiel grabbed $157 million in March, just a few months after raising another $125 million in November 2020. It was rumoured at the time that the company was preparing for an IPO which, as we know now, was indeed the case.

Like Beckley Psytech mentioned above, Atai is working on leveraging psychoactive compounds in treating different conditions, but focuses solely on mental health issues. Namely, it looks at using DMT, arketamine, and psilocybin in treating disorders including depression, anxiety, and post-traumatic stress.

Porto-founded SWORD Health announced in November that it had raised $163 million at a valuation close to $2 billion. The round, which came a few months after another $85 million cash injection, was led by Sapphire Ventures.

SWORD Health focuses on musculoskeletal (MSK) disorders and connects its customers to a virtual physical therapist. In addition to that, every patient gets a tablet and motion sensors; as they perform prescribed motions and exercises, the digital therapist provides real-time feedback and tips.

Launched in 2014, Paris-based DNA Script got $165 million in funding in October to keep working on its DNA printer. Earlier last year, the company debuted its Syntax platform with a benchtop printer that uses enzymes and genetic inks to synthesize DNA.

DNA Script believes that printers like Syntax have the potential to become as ubiquitous as sequencers and microscopes. It had also partnered with Moderna to work on development of on-demand vaccines and therapeutics.

Another Parisian startup, Owkin, secured $180 million in funding in November from Sanofi, a multinational pharma giant. Another Parisian startup, Owkin, secured $180 million in funding in November from Sanofi, a multinational pharma giant.

Owkin has created a global research network that employs federated learning, which is a machine learning technique that trains an algorithm across multiple decentralised edge devices or servers holding local data samples, without exchanging them. In practice, this means that researchers across the world can make use of global patient datasets, while keeping sensitive information protected.

UK-founded Quanta Dialisys technologies raised $245 million in June from hedge fund Glenview Capital and investment firm Novo Holdings. The company expected to use the funding to scale up manufacturing, sales, and customer service of its SC+ hemodialisys machine.

The device received an approvalo from the Food and Drug Administration in the US for use in medical facilities. Now Quanta is working on a clinical study to receive an at-home use approval.

Swedish telehealth champion Kry (known as Livi in France and the UK) landed 262 million in April from CPP Investments and Fidelity Management & Research. The company grew significantly during the first year of the COVID-19 pandemic, showing a 100 percent year-over-year growth in 2020. In practice, that meant over 3 million doctor appointments had been booked through the platform through the year.

In addition to the traditional telehealth approach, where patients can be connected to their local GPs via an app, Kry runs its own clinics in some of its markets. It also partners with private healthcare providers and offers a range of tools for clinicians.

In June, Cambridge-based CMR Surgical announced a behemoth funding round of $600 million led by SoftBank Vision Fund 2 and co-led by Ally Bridge Group. The deal valued the company at $3 billion.

CMR has entered the market of medical robots with Versius, a modular keyhole surgery system thats already being used in the UK, as well as elsewhere in Europe, India, the Middle East, and Australia. The company planned to use the latest round to accelerate its global rollout.

To learn more, check out an interview with CMRs CEO Per Vegard Nerseth we recorded soon after the funding announcement:

These were the 15 largest healthtech funding rounds in Europe in 2021. Check out the rest of our reflection series covering different parts of the European tech industry over here.

Read more here:
In sickness and in wealth: Top 15 European healthtech funding rounds in 2021 Tech.eu - Tech.eu

Full-Year 2021 Galafold Revenue of ~$306M, Representing 17% YoY Growth

Expect Double-Digit Growth (15-20%) of 2022 Galafold Revenue with $350M-$365M in Global Sales

U.S. and EU Regulatory Reviews Underway for AT-GAA in Pompe Disease

AT-GAA Global Launch Preparations Accelerating

Cash Flow and Balance Sheet Sufficient to Achieve Self-Sustainability and Profitability by 2023

PHILADELPHIA, Jan. 10, 2022 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), a patient-dedicated global biotechnology company focused on developing and commercializing novel medicines for rare diseases, today provided its preliminary and unaudited 2021 revenue, corporate updates, and full-year 2022 outlook and revenue guidance.

Corporate Highlights:

Global revenue for Galafold (migalastat) in 2021 reached $306 million driven by strong new patient accruals and sustained patient adherence, representing a year-over-year increase of 17%.

AT-GAA regulatory reviews are underway: In the U.S., the Food and Drug Administration (FDA) accepted for review the Biologics License Application (BLA) for cipaglucosidase alfa and the New Drug Application (NDA) for miglustat, the two components of AT-GAA. The FDA has set a Prescription Drug User Fee Act (PDUFA) action date of May 29, 2022 for the NDA and July 29, 2022 for the BLA. In the EU, the Marketing Authorization Applications (MAA) were submitted and validated in the fourth quarter by the European Medicines Agency (EMA).

AT-GAA launch preparations are accelerating: Development of global launch plans, targeted investments in additional personnel, and launch inventory are fully underway as company believes AT-GAA can rapidly become the new standard of care treatment regimen for people living with Pompe disease.

Pipeline of next generation genetic medicines to advance through both internal efforts and creation of R&D focused new company, Caritas Therapeutics.

Cash Flow and Balance Sheet sufficient to achieve self-sustainability and profitability in 2023. Through careful management of expenses, the Company is on the path to achieve self-sustainability and profitability in 2023 as it executes on the global Galafold expansion and prepares for AT-GAA global launch.

Story continues

John F. Crowley, Chairman and Chief Executive Officer of Amicus Therapeutics, Inc., stated, In 2021, Amicus made great strides for people worldwide living with rare diseases through the broad execution of our annual strategic priorities. Despite the resurgence of COVID with Delta and Omicron variants, the Galafold business remains very strong, and we delivered on our full year revenue guidance and expect robust growth this year driven by strong adoption across the globe for our Fabry disease precision medicine. We are underway with the global regulatory reviews and launch preparations for AT-GAA in Pompe disease with high expectations that this novel medicine has the potential to become the new standard of care in Pompe disease treatment and the potential to address unmet needs for thousands of Pompe patients in the years ahead. We see further opportunity ahead to impact the lives of those living with rare disease through our genetic medicine business and capabilities. Together, Amicus is in a stronger position than ever and we remain steadfast on our mission of transforming the lives of people living with rare, life-threatening conditions and creating significant value for our shareholders.

Bradley Campbell, President and Chief Operating Officer of Amicus Therapeutics, Inc., stated, We are looking ahead to transforming Amicus into a leading global rare disease biotechnology company led by two innovative therapies that we believe meaningfully impact the lives of people living with Fabry and Pompe disease. This year we will be focused on continuing to bring Galafold to patients around the world and delivering on the anticipated approval and launch of AT-GAA.

Amicus is focused on the following five key strategic priorities in 2022:

Continued double-digit Galafold growth (15-20%) with revenue of $350M to $365M

Secure FDA approval and positive CHMP opinion for AT-GAA

Initiate successful, rapid launch in the U.S. for AT-GAA

Advance best-in-class next generation genetic medicines and capabilities

Maintain strong financial position on path to profitability

Mr. Crowley and Mr. Campbell will discuss the Amicus corporate objectives and key milestones in a presentation at the 40th Annual J.P. Morgan Healthcare Conference on Wednesday, January 12, 2022, at 3:45 p.m. ET. A live webcast of the presentation can be accessed through the Investors section of the Amicus Therapeutics corporate website at http://ir.amicusrx.com/events.cfm, and will be archived for 90 days.

Full-Year 2021 Revenue Summary and 2022 Revenue Guidance

Global revenue for Galafold in full-year 2021 was approximately $306 million, preliminary and unaudited, representing a year-over-year increase of 17% from total revenue of $260.9 million in 2020. Full-year revenue benefited from a positive currency impact of approximately $7 million. Fourth quarter Galafold revenue was approximately $84 million, preliminary and unaudited.

For the full-year 2022, the Company anticipates total Galafold revenue of $350 million to $365 million. Double-digit revenue growth (15-20%) in 2022 is expected to be driven by continued underlying demand from both switch and nave patients, geographic expansion, the continued diagnosis of new Fabry patients and commercial execution across all major markets, including the U.S., EU, U.K., and Japan.

The current cash position is sufficient to achieve self-sustainability and profitability in 2023.

Updates and Anticipated Milestones by Program

Galafold (migalastat) Oral Precision Medicine for Fabry Disease

Sustain double-digit revenue growth in 2022 of $350 million to $365 million

Continue geographic expansion

Registry and other Phase 4 studies ongoing

AT-GAA for Pompe Disease

U.S. Prescription Drug User Fee Act (PDUFA) action date of May 29, 2022 for the NDA and July 29, 2022 for the BLA

EU Committee for Medicinal Products for Human Use (CHMP) opinion expected in late 2022

Continue to broaden access through early access plans in the U.K., Germany, Japan, and other countries

Ongoing supportive studies, including pediatric and extension studies

Gene Therapy Pipeline

Advance IND-enabling studies, manufacturing activities, and regulatory activities for the Fabry disease gene therapy program towards an anticipated IND in 2023

Progress preclinical studies, manufacturing activities, and regulatory activities for the Pompe disease gene therapy program

Discontinue CLN6 Batten disease gene therapy program following review of long-term extension study data. It was recently determined that any initial stabilization of disease progression at the two-year time point was not maintained through the long-term extension study. Amicus plans to further analyze and share the Phase 1/2 data with key stakeholders in the CLN6 Batten disease community and work with the community to support continued research efforts to find better treatments and cures which are so desperately and urgently needed

Advance CLN3 Batten disease program with the higher dose, different promoter, and intra-cisterna magna (ICM) route of delivery pending further Phase 1/2 clinical data and pre-clinical data expected in 2022. These data will inform timeline for commencement of any pivotal clinical study

About GalafoldGalafold (migalastat) 123 mg capsules is an oral pharmacological chaperone of alpha-galactosidase A (alpha-Gal A) for the treatment of Fabry disease in adults who have amenable galactosidase alpha gene (GLA) variants. In these patients, Galafold works by stabilizing the bodys own dysfunctional enzyme so that it can clear the accumulation of disease substrate. Globally, Amicus Therapeutics estimates that approximately 35 to 50 percent of Fabry patients may have amenable GLA variants, though amenability rates within this range vary by geography. Galafold is approved in over 40 countries around the world, including the U.S., EU, U.K., Japan and others.

U.S. INDICATIONS AND USAGEGalafold is indicated for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene (GLA) variant based on in vitro assay data.

This indication is approved under accelerated approval based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate. Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials.

U.S. IMPORTANT SAFETY INFORMATION

ADVERSE REACTIONSThe most common adverse reactions reported with Galafold (10%) were headache, nasopharyngitis, urinary tract infection, nausea and pyrexia.

USE IN SPECIFIC POPULATIONSThere is insufficient clinical data on Galafold use in pregnant women to inform a drug-associated risk for major birth defects and miscarriage. Advise women of the potential risk to a fetus.

It is not known if Galafold is present in human milk. Therefore, the developmental and health benefits of breastfeeding should be considered along with the mothers clinical need for Galafold and any potential adverse effects on the breastfed child from Galafold or from the underlying maternal condition.

Galafold is not recommended for use in patients with severe renal impairment or end-stage renal disease requiring dialysis.

The safety and effectiveness of Galafold have not been established in pediatric patients.

To report Suspected Adverse Reactions, contact Amicus Therapeutics at 1-877-4AMICUS or FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch.

For additional information about Galafold, including the full U.S. Prescribing Information, please visit https://www.amicusrx.com/pi/Galafold.pdf.

EU Important Safety InformationTreatment with Galafold should be initiated and supervised by specialists experienced in the diagnosis and treatment of Fabry disease. Galafold is not recommended for use in patients with a nonamenable mutation.

Galafold is not intended for concomitant use with enzyme replacement therapy.

Galafold is not recommended for use in patients with Fabry disease who have severe renal impairment (<30 mL/min/1.73 m2). The safety and efficacy of Galafold in children less than 12 years of age have not yet been established. No data are available.

No dosage adjustments are required in patients with hepatic impairment or in the elderly population.

There is very limited experience with the use of this medicine in pregnant women. If you are pregnant, think you may be pregnant, or are planning to have a baby, do not take this medicine until you have checked with your doctor, pharmacist, or nurse.

While taking Galafold, effective birth control should be used. It is not known whether Galafold is excreted in human milk.

Contraindications to Galafold include hypersensitivity to the active substance or to any of the excipients listed in the PRESCRIBING INFORMATION.

Galafold 123 mg capsules are not for children (12 years) weighing less than 45 kg.

It is advised to periodically monitor renal function, echocardiographic parameters and biochemical markers (every 6 months) in patients initiated on Galafold or switched to Galafold.

OVERDOSE: General medical care is recommended in the case of Galafold overdose.

The most common adverse reaction reported was headache, which was experienced by approximately 10% of patients who received Galafold. For a complete list of adverse reactions, please review the SUMMARY OF PRODUCT CHARACTERISTICS.

Call your doctor for medical advice about side effects.

For further important safety information for Galafold, including posology and method of administration, special warnings, drug interactions and adverse drug reactions, please see the European SmPC for Galafold available from the EMA website at http://www.ema.europa.eu.

About Fabry Disease

Fabry disease is an inherited lysosomal disorder caused by deficiency of an enzyme called alpha-galactosidase A (alpha-Gal A), which results from mutations in the GLA gene. The primary biological function of alpha-Gal A is to degrade specific lipids in lysosomes, including globotriaosylceramide (referred to here as GL-3 and also known as Gb3). Lipids that can be degraded by the action of alpha-Gal A are called "substrates" of the enzyme. Reduced or absent levels of alpha-Gal A activity lead to the accumulation of GL-3 in the affected tissues, including heart, kidneys, and skin. Accumulation of GL-3 and progressive deterioration of organ function is believed to lead to the morbidity and mortality of Fabry disease. The symptoms can be severe, differ from person to person, and begin at an early age.

About Amicus Therapeutics

Amicus Therapeutics (Nasdaq: FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases. For more information please visit the companys website at http://www.amicusrx.com, and follow us on Twitter and LinkedIn.

Forward Looking Statement

This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995 relating to preclinical and clinical development of our product candidates, the timing and reporting of results from preclinical studies and clinical trials, the prospects and timing of the potential regulatory approval of our product candidates, commercialization plans, manufacturing and supply plans, financing plans, and the projected revenues and cash position for the Company. The inclusion of forward-looking statements should not be regarded as a representation by us that any of our plans will be achieved. Any or all of the forward-looking statements in this press release may turn out to be wrong and can be affected by inaccurate assumptions we might make or by known or unknown risks and uncertainties. For example, with respect to statements regarding the goals, progress, timing, and outcomes of discussions with regulatory authorities, and in particular the potential goals, progress, timing, and results of preclinical studies and clinical trials, including as they are impacted by COVID-19 related disruption, are based on current information. The potential impact on operations from the COVID-19 pandemic is inherently unknown and cannot be predicted with confidence and may cause actual results and performance to differ materially from the statements in this release, including without limitation, because of the impact on general political and economic conditions, including as a result of efforts by governmental authorities to mitigate COVID-19, such as travel bans, shelter in place orders and third-party business closures and resource allocations, manufacturing and supply chain disruptions and limitations on patient access to commercial or clinical product. In addition to the impact of the COVID-19 pandemic, actual results may differ materially from those set forth in this release due to the risks and uncertainties inherent in our business, including, without limitation: the potential that results of clinical or preclinical studies indicate that the product candidates are unsafe or ineffective; the potential that it may be difficult to enroll patients in our clinical trials; the potential that regulatory authorities, including the FDA, EMA, and PMDA, may not grant or may delay approval for our product candidates; the potential that we may not be successful in commercializing Galafold in Europe, Japan, the US and other geographies or our other product candidates if and when approved; the potential that preclinical and clinical studies could be delayed because we identify serious side effects or other safety issues; the potential that we may not be able to manufacture or supply sufficient clinical or commercial products; and the potential that we will need additional funding to complete all of our studies and manufacturing. Further, the results of earlier preclinical studies and/or clinical trials may not be predictive of future results. Statements regarding corporate financial guidance and financial goals and the attainment of such goals. With respect to statements regarding projections of the Company's revenue and cash position, actual results may differ based on market factors and the Company's ability to execute its operational and budget plans. In addition, all forward-looking statements are subject to other risks detailed in our Annual Report on Form 10-K for the year ended December 31, 2020 and the Quarterly Report filed on Form 10-Q for the quarter ended September 30, 2021. You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. All forward-looking statements are qualified in their entirety by this cautionary statement, and we undertake no obligation to revise or update this news release to reflect events or circumstances after the date hereof.

CONTACT:

Investors: Amicus Therapeutics Andrew FaughnanExecutive Director, Investor Relationsafaughnan@amicusrx.com(609) 662-3809

Media: Amicus Therapeutics Diana Moore Head of Global Corporate Communicationsdmoore@amicusrx.com(609) 662-5079

FOLDG

More:
Amicus Therapeutics Reports Preliminary 2021 Revenue and Provides 2022 Strategic Outlook and Revenue Guidance - Yahoo Finance

BETHESDA, Md., Jan.12, 2022 /PRNewswire/ --The ACMG Annual Clinical Genetics Meetingwill be a hybrid event in 2022 with the options to attend in person in Nashville or online. This meeting continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine. The 2022 ACMG Annual Clinical Genetics Meeting will offer media a firsthand look at what is shaping the future of genetics and genomics in medicine and will offer a variety of engaging and interactive educational formats and types of sessionsfrom Scientific Sessions and Workshops to TED-Style Talks, Case-based Sessions, Platform Presentations and Short Courses.

Interview those at the forefront in medical genetics and genomics, connect with new sources, and get story ideas on the clinical practice of genetics and genomics in healthcare today and for the future. Learn how genetics and genomics research is being integrated and applied in medical practice. Topics include artificial intelligence in genetics, gene editing, cancer genetics, direct-to-consumer genetic testing, exome sequencing, pre- and perinatal genetics, the importance of diversity, equity and inclusion in the study of genetics, biochemical/metabolic genetics, genetic counseling, health services and implementation, legal and ethical issues, therapeutics and more.

Credentialed media representatives on assignment are invited to cover the ACMG Annual Meeting Hybrid Event on a complimentary basis. Contact Reymar Santos at [emailprotected]for the Press Registration Invitation Code, which will be needed to register at http://www.acmgmeeting.net.

Abstracts will be available online in February. All attendees will have access to session recordings until April 30.

A few 2022 ACMG Annual Meeting highlights include:

Program Highlights:

Two Short Courses Available Starting on Tuesday, March 22:

Cutting-Edge Scientific Concurrent Sessions:

Social Media for the 2022 ACMG Meeting: As the ACMG Annual Meeting approaches, journalists can stay up to date on new sessions and information by following the ACMG social media pages on Facebook,Twitterand Instagramand by usingthe hashtag #ACMGMtg22 for meeting-related tweets and posts.

The ACMG Annual Meeting website has extensive information at http://www.acmgmeeting.netand will be updated as new information becomes available. All plenaries plus one session per time block are currently planned for streaming.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics, and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,400 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Kathy Moran, MBA[emailprotected]

SOURCE American College of Medical Genetics and Genomics

Go here to see the original:
Press Registration Is Now Open for the 2022 ACMG Annual Clinical Genetics Meeting - PRNewswire