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Category Archives: Genetic Medicine

Ambry Genetics Publishes 43,000 Patient Study Showing Combined RNA and DNA Analysis Identifies Patients Who Are High-Risk for Cancer but Would Have…

The largest RNA study ever conducted in hereditary cancer analyzed more than 43,000 patients who received Ambrys +RNAinsight testing and found that 1 in 950 had an elusive clinically actionable result that would have been missed by DNA-only testing.

Combined DNA and RNA testing identified cancer risk in an additional 1 out of 79 patients compared to DNA-only testing.

ALISO VIEJO, Calif., August 29, 2022--(BUSINESS WIRE)--Ambry Genetics, a leader in clinical diagnostic testing and a subsidiary of REALM IDx, Inc., announced today the findings of a study that showed paired RNA and DNA genetic testing, conducted at the same time, detected elusive pathogenic variants in 1 of every 950 patients that were missed by DNA testing alone. The findings, published in npj Genomic Medicine, highlight the importance of combining RNA and DNA analysis in hereditary cancer testing to give clinicians and their patients the most accurate and comprehensive genetic data needed to inform patient care and achieve the best outcomes.

According to the National Library of Medicine, as of August 2017, there were approximately 75,000 genetic tests on the market, representing 10,000 unique test types. Unfortunately, many of these DNA-only tests exclude large portions of DNA such as introns, a sequence of DNA that is spliced out before an RNA molecule is translated into a protein. In addition to omitting large portions of introns, DNA-only testing lacks the functional context to determine whether a variant increases cancer risk, which can lead to inconclusive results. These limitations may prevent patients and their families from getting accurate results to inform their preventative or therapeutic care.

Concurrent RNA and DNA testing helps identify more patients at risk by determining if an uncertain result from DNA testing is normal or disease-causing, and expands the range of genetic testing to identify mutations that DNA-only testing misses.

"With our +RNAinsight test we were the first company to offer upfront paired DNA and RNA sequencing to give clinicians and their patients the most accurate and comprehensive information about their cancer risk," said Tom Schoenherr, CEO, Ambry Genetics. "This study confirms that conducting RNA and DNA testing together is critical to help identify high-risk individuals who would have been missed by DNA-only testing."

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Previously, published evidence of the value of RNA sequencing has been limited by studies with small sample sizes and enriched cohorts. This study by Ambry is the largest to examine the impact of paired DNA and RNA analysis in hereditary cancer testing. In the study, tests from 43,524 patients who underwent paired DNA-RNA genetic testing using Ambrys +RNAinsight from March 2019 through April 2020 were examined to determine if the paired sequencing detected more pathogenic variants than DNA testing alone. The analysis identified patients who had disease-causing alterations that DNA testing alone would have misinterpreted. Examining the RNA data resolved variant findings in 549 patients (1 in 79 patients) by providing the required functional data for more accurate interpretation of splicing variants. In addition, the analysis showed that 1 of every 950 patients had a pathogenic deep intronic variant that would not have appeared in DNA testing alone.

The results from the study may underestimate the total clinical impact because some of the patients families who are now eligible for genetic testing were not tested. In addition, the ripple effect created by these updated results extends to past and future patients. These downstream benefits were not quantified in the current study.

"This is the largest study of its kind to show the importance of RNA testing in predicting cancer risk," said Carrie Horton, senior clinical research specialist for oncology and first author of the study. "Its clear that RNA analysis has the potential to become a standard practice for genetic testing to improve hereditary cancer care."

A webinar, open to the media, genetic counselors, clinicians and other interested parties, will be conducted on Thursday, September 15 at 10 a.m. PT to review the study findings. Registration information is here.

Ambrys +RNAinsight was the first test to provide comprehensive gene coverage for RNA analysis to help classify and detect DNA variants associated with a variety of cancers including breast, ovarian, prostate, colon, pancreatic and uterine. +RNAinsight enables more accurate identification of patients with increased genetic risks for cancer, finds actionable results that may otherwise be missed and decreases the frequency of inconclusive results.

About Ambry Genetics

Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

View source version on businesswire.com: https://www.businesswire.com/news/home/20220829005605/en/

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Media Contact

Brad LottermanCommunications DirectorREALM IDx949-401-0465blotterman@realmidx.com

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NIH study of tea drinkers in the UK suggests health benefits for black tea – National Institutes of Health (.gov)

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Monday, August 29, 2022

A prospective study of half a million tea drinkers in the United Kingdom has shown that higher tea intake was associated with a modestly lowered risk of death. The study, led by researchers at the National Cancer Institute, part of the National Institutes of Health, is a large and comprehensive analysis of the potential mortality benefits of drinking black tea, which is the most common type of tea consumed in the U.K.

Past studies finding a modest association between higher tea intake and lower risk of death have mainly focused on Asian populations, who commonly drink green tea. Studies on black tea have yielded mixed results.

In the new study, the researchers found that people who consumed two or more cups of tea per day had a 9% to 13% lower risk of death from any cause than people who did not drink tea. Higher tea consumption was also associated with a lower risk of death from cardiovascular disease, ischemic heart disease, and stroke. The association was seen regardless of preferred tea temperature, the addition of milk or sugar, and genetic variations affecting the rate at which people metabolize caffeine.

The findings, which appear Aug. 30, 2022, in the Annals of Internal Medicine, suggest that black tea, even at higher levels of intake, can be part of a healthy diet, the researchers wrote.

The study involved 498,043 men and women between ages 40 and 69 who participated in a large cohort study called UK Biobank. The participants were followed for about 11 years, and death information came from a linked database from the UK National Health Service.

Maki Inoue-Choi, Ph.D., Division of Cancer Epidemiology and Genetics, National Cancer Institute

Tea Consumption and All-Cause and Cause-Specific Mortality in the UK Biobank: A Prospective Cohort Study appears August 30 in Annals of Internal Medicine.

About the National Cancer Institute (NCI): NCI leads the National Cancer Program and NIHs efforts to dramatically reduce the prevalence of cancer and improve the lives of people with cancer. NCI supports a wide range of cancer research and training extramurally through grants and contracts. NCIs intramural research program conducts innovative, transdisciplinary basic, translational, clinical, and epidemiological research on the causes of cancer, avenues for prevention, risk prediction, early detection, and treatment, including research at the NIH Clinical Centerthe worlds largest research hospital. Learn more about NCIs intramural research from the Center for Cancer Research and the Division of Cancer Epidemiology and Genetics. For more information about cancer, please visit the NCI website at cancer.gov or call NCIs contact center at 1-800-4-CANCER (1-800-422-6237).

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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The genetics behind why some people get sicker with COVID-19 than others – ABC News

Norman Swan: One of the common questions that Tegan and I get about Covid is why there's so much variation in how people respond to the infection. One answer is in your genes, and there is a massive ongoing study into comparing people's genomes with how COVID-19 has affected them. Dr Gita Pathak is a team leader in what's called the COVID-19 Host Genetics Initiative. Gita is based at Yale University's School of Medicine in the United States.

Gita Pathak: Thank you for inviting me, I really appreciate it.

Norman Swan: So you're not mapping the virus here, you're mapping the people who were infected with the virus to see what happens to them and whether there are specific genes involved in their experience of the virus.

Gita Pathak: That is correct. The goal of the study is to understand human genetics response to the viral infection which we know as COVID-19. We wanted to look at three different outcomes of COVID-19, specifically people who were critically ill from Covid, then people who were hospitalised due to Covid, and people who tested positive for Covid, so the least severe of the three definitions, and which genes might be associated with these three outcomes.

Norman Swan: And how many genomes have you managed to test?

Gita Pathak: 60 studies from 25 countries, and that resulted in close to 3 million individuals' genetic profiles, and we found a total of 23 genes that show an association with COVID-19.

Norman Swan: So, let's take severity, and this is in a European population, by and large, a Caucasian population. Have you found any consistency in genes for severe disease?

Gita Pathak: Yes, so genetic ancestry is different than what someone may identify themselves as, like ethnically or geographically. Mostly we do have genetic ancestry of the European descent, but we also had people who are genetically South Asian, East Asian, African ancestry, and that separate from where they are geographically or what they identify as.

Norman Swan: So this is a bit like 23andMe or Ancestry.com where you send off your genes and you find out that you are 50% Greek and you didn't think you were 50% Greek.

Gita Pathak: Correct. When we are looking at genetic profiles, it's really important to adjust for genetic ancestry and not specifically for what somebody identifies as. Some genetic variation is more common in one ancestry over others, and if we include people from these diverse ancestries, we can pick up these signals much more quickly

Norman Swan: So, for example, it was said in the early part of the pandemic that people of South Asian origin had more severe disease and a higher risk of death. Did that pan out in your study?

Gita Pathak: We did find one of the genetic variants that was more common in South Asian populations relative to other populations, but that is just one variant. Genes tend to perform in a similar way across ancestries. They may vary based on their frequency in different ancestries, and that information helps us capture why one ancestry might be exhibiting a higher response or a softer response, but by and large all the genes we saw, they tend to have a similar effect across all ancestries.

Norman Swan: And what with these genes doing to increase your vulnerability to severe disease?

Gita Pathak: Some of the genes that we found were related to different lung functions. So, for example, we found something called SFTPD which is a lung surfactant protein, and it has already been known to be associated with different pulmonary functions, and there are other studies which have shown that this specific gene has been known with respiratory distress syndrome in different populations.

Norman Swan: And just to explain, surfactant is the fluid, if you like, that lines the tubes of your lungs and keeps them open, and it's what is deficient in premature babies, causing the respiratory disease of the premature baby. So, in other words, a deficiency of this in adults may predispose you, unsurprisingly, to severe disease. The question of course on everybody's lips now is why do some people not seem to catch COVID-19? There's a group of people who appear anecdotally to be resistant. Did you find COVID-19 resistance genes?

Gita Pathak: Not in our work. Depending on how we look at the variant, the varients we find are associated with the COVID-19 outcome, but if there are people who may be on the opposite spectrum of these, so let's say who are not carriers of this, they might be generally resistant to Covid but that specific study we haven't performed, but that's a good question for later.

Norman Swan: And just finally, any therapeutic insights that might direct people towards more effective medications to treat people who've got Covid, or prevent it getting worse?

Gita Pathak: One good thing that we understand from this work is that we now have a good number of genes to specifically focus our efforts into, and now this can lead to efforts of drug repurposing or drug development. Did we find a specific drug? No, but we definitely found several targets that now could be investigated for different drugs.

Norman Swan: Gita, thank you very much for joining us.

Gita Pathak: Thank you so much for having me, I really appreciate it.

Norman Swan: Dr Gita Pathak is a team leader in the COVID-19 Host Genetics Initiative at Yale University's School of Medicine.

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Morris Animal Foundation Golden Retriever Lifetime Study Celebrates 10 Years – PR Newswire

DENVER, Aug. 29, 2022 /PRNewswire/ --The Morris Animal FoundationGolden Retriever Lifetime Studyhas reached its 10-year milestone a decade of gathering data and biological samples to inform canine health studies for many years to come.

The Golden Retriever Lifetime Study is one of the most comprehensive studies of its kind ever undertaken in veterinary medicine. The longitudinal study, following the lives of more than 3,000 golden retrievers, is the largest study funded by the Foundation in its mission to improve the health and well-being of animals around the world.

"We're proud of the Golden Retriever Lifetime Study and how it is advancing canine health," said Tiffany Grunert, President/CEO. "It's taken an incredible amount of commitment from our Study families, partner veterinarians and, of course, our hero dogs. Without their dedication, this study simply would not be possible."

Owners and veterinarians fill out comprehensive questionnaires annually, and veterinarians also collect biological samples at each dog's annual visit. In addition, all dogs have been genotyped, contributing valuable data to better understand genetic associations with disease and health. The commitment from the Study's participants provides researchers with valuable data and samples, leading to expanded research opportunities in cancer and other areas, including:

Seven scientific papers have been published since the Study began, focusing on topics such as thestructure of the Studyand a closer look at thebaseline demographics of the cohort. A 2019 paper from Embark Inc. used data from the Study to showthe effect of inbreeding on fertility. Another paper investigated the relationship betweentiming of spay/neuter and the development of obesity and non-traumatic orthopedic injury. The most recent paper, published in Canine Medicine and Genetics, reports on environmental exposures and lymphoma risk in dogs using data from the Study.

Currently, cancer is the leading cause of death in Study dogs, accounting for 75% of all deaths. Of the primary cancer endpoints, the largest contributor to those deaths is hemangiosarcoma. Based on outcomes to date, Morris Animal Foundation will be funding future work to develop diagnostics and therapeutics, and to identify genetic contributors to hemangiosarcoma. Researchers will be able to use the samples collected from dogs diagnosed with hemangiosarcoma to potentially develop early screening and/or diagnostic tests as well as understand possible genetic links.

The Golden Retriever Lifetime Study team promotes collaborative research using Study data and samples with scientists from around the world to advance the prevention, diagnosis and treatment of cancer and other major health conditions in dogs.

"The Golden Retriever Lifetime Study is such a rich source of scientific data," said Grunert. "We're encouraged by what we have accomplished thus far but know it's the tip of the iceberg in terms of what we can learn."

About Morris Animal Foundation

Founded in 1948, Morris Animal Foundation is one of the largest nonprofit animal health research organizations in the world, funding more than $149 million in critical studies across a broad range of species. Learn more at morrisanimalfoundation.org.

SOURCE Morris Animal Foundation

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An international team sets out to cure genetic heart diseases with one shot – Freethink

Armed with a 30 million grant from the British Heart Foundation, an international team of researchers from the UK, US, and Singapore is setting their sights on curing forms of genetic heart disease using gene therapy.

Called the CureHeart Project, the team which includes researchers from Oxford, Harvard, Singapores National Heart Research Institute, and pharma multinational Bristol Myers Squibb will develop therapies for inherited heart muscle conditions, which impact millions and can cause sudden death, including in young people.

They plan to tackle the problem using two types of targeted techniques, called base editing and prime editing.

An international team of researchers wants to develop a one-shot cure for inherited heart muscle conditions.

Many of the mutations seen in these patients come down to one fateful letter in their DNA code, Christine Seidman, professor of medicine and genetics at Harvard Medical School and co-lead of CureHeart, told The Guardian.

That has raised the possibility that we could alter that one single letter and restore the code so that it is now making a normal gene, with normal function, Seidman said.

The teams work is building on successful demonstrations in animals.

Our goals are to fix the hearts, to stabilise them where they are and perhaps to revert them back to more normal function, Seidman said.

Fixing genetic heart disease: Inherited heart muscle diseases cause abnormalities in the heart, which are passed on through families.

Many different mutations can cause them, but in total, they affect one out of every 250 people around the world, Hugh Watkins, CureHearts lead investigator and the director of Oxfords British Heart Foundation Centre of Research Excellence, told The Guardian.

People of any age can fall victim to sudden heart failure and death, and there is generally a 50/50 chance of passing the problem along to their children.

But decades of genetic research and recent innovations in gene therapy have researchers believing that gene editing may be the answer and even, eventually, the cure.

After 30 years of research, we have discovered many of the genes and specific genetic faults responsible for different cardiomyopathies, and how they work, Watkins said.

Inherited heart muscle conditions impact millions of people, and can cause sudden death.

By using prime and base editing very precise tools for editing DNA the team hopes to develop an injectable cure to repair faulty heart genes, the British Heart Foundation said in a release.

We believe that we will have a gene therapy ready to start testing in clinical trials in the next five years, Watkins told The Guardian.

According to CureHeart, their genetic goals are twofold.

When the cause is a fault in one copy of a gene, which stops the healthy copy from working, they want to switch off the faulty copy; their second approach will be to edit the broken gene sequence itself, to correct it. Theyve demonstrated both methods in mouse models.

Delivering cures: To achieve those goals, the team is turning to two different precision gene editing techniques: prime editing and base editing.

Both enable researchers to edit DNA strands without completely slicing through them (unlike the earlier CRISPR techniques). Prime editing allows researchers to insert or remove certain parts of the genome more precisely, with less collateral damage and fewer errors.

Prime editors offer more targeting flexibility and greater editing precision, Broad Institute chemist David Liu told Science.

They plan to tackle the problem using two types of targeted genetic techniques, called base editing and prime editing.

Base editing which, Science reported, Lius lab invented involves even smaller edits, engineering single letters in the code.

We may be able to deliver these therapies in advance of disease, in individuals we know from genetic testing are at extraordinary risk of having disease development and progressing to heart failure, Seidman told The Guardian.

Never before have we been able to deliver cures, and that is what our project is about. We know we can do it and we aim to get started.

Wed love to hear from you! If you have a comment about this article or if you have a tip for a future Freethink story, please email us at [emailprotected]

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First Gene Therapy for Adults with Severe Hemophilia A, BioMarin’s ROCTAVIAN (valoctocogene roxaparvovec), Approved by European Commission (EC) -…

First Gene Therapy for Adults with Severe Hemophilia A, BioMarin's ROCTAVIAN (valoctocogene roxaparvovec), Approved by European Commission (EC)

Maintains Orphan Drug Designation (ODD) in the EU Providing 10-years of Market Exclusivity

Significant BenefitOver Existing Therapies for Patients with Severe Hemophilia A in EU Based on EMA Determination of ODD

Conference Call and Webcast to be Held Wed., Aug. 24th at 8:00 pm Eastern

SAN RAFAEL, Calif., Aug. 24, 2022 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (NASDAQ: BMRN) today announced that the European Commission (EC) has granted conditional marketing authorization (CMA) to ROCTAVIAN (valoctocogene roxaparvovec) gene therapy for the treatment of severe hemophilia A (congenital Factor VIII deficiency) in adult patients without a history of Factor VIII inhibitors and without detectable antibodies to adeno-associated virus serotype 5 (AAV5). The EC also endorsed EMA's recommendation for Roctavian to maintain orphan drug designation, thereby granting a 10-year period of market exclusivity. The EMA recommendation noted that, even in light of existing treatments, Roctavian may potentially offer a significant benefit to those affected with severe Hemophilia A. The one-time infusion is the first approved gene therapy for hemophilia A and works by delivering a functional gene that is designed to enable the body to produce Factor VIII on its own without the need for continued hemophilia prophylaxis, thus relieving patients of their treatment burden relative to currently available therapies. People with hemophilia A have a mutation in the gene responsible for producing Factor VIII, a protein necessary for blood clotting.

It is estimated that more than 20,000 adults are affected by severe hemophilia A across more than 70 countries in Europe, the Middle East, and Africa. Of the 8,000 adults with severe hemophilia A in the 24 countries within BioMarin's footprint covered by today's EMA approval, there are an estimated 3,200 patients who will be indicated for Roctavian. BioMarin anticipates additional access to ROCTAVIAN for patients outside of the EU through named patient sales based on the European Medicines Agency (EMA) approval in countries in the Middle East, Africa and Latin America and expects additional market registrations to be facilitated by the EMA license.

"This approval in the EU represents a medical breakthrough in the treatment of patients with severe hemophilia A that expands the conversation between a patient and physician on treatment choices to now include a one-time infusion that protects from bleeds for several years," said Professor Johannes Oldenburg, Director of the Institute of Experimental Haematology and Transfusion Medicine and the Haemophilia Centre at the University Clinic in Bonn, Germany. "It is exciting to imagine the possibilities of this approved gene therapy, which has demonstrated a substantial and sustained reduction in bleeding for patients, who potentially could be freed from the burden of regular infusions."

"Roctavian approval in Europe is a historic milestone in medicine and is built upon almost four decades of scientific discovery, innovation, and perseverance. We thank the European Commission for recognizing Roctavian's value as the first gene therapy for hemophilia A, a feat that we believe will transform how healthcare professionals and the patient community think about caring for bleeding disorders," said Jean-Jacques Bienaim, Chairman and Chief Executive Officer of BioMarin. "We are grateful to the patients, investigators and community, who dedicated their time and effort to this achievement and whose aspirations provided the driving force behind making this one-time therapy a reality."

The EC based its decision on a significant body of data from the Roctavian clinical development program, the most extensively studied gene therapy for hemophilia A, including two-year outcomes from the global GENEr8-1 Phase 3 study. The GENEr8-1 Phase 3 study demonstrated stable and durable bleed control, including a reduction in the mean annualized bleeding rate (ABR) and the mean annualized Factor VIII infusion rate. In addition, the data included five and four years of follow-up from the 6e13 vg/kg and 4e13 vg/kg dose cohorts, respectively, in the ongoing Phase 1/2 dose escalation study. BioMarin has committed to continue working with the broader community and the EMA to monitor the long-term effects of treatment. The Product Information will be available shortly on the EMA website under the Medicines tab. Search for "ROCTAVIAN" and select "Human medicine European public assessment report (EPAR): Roctavian. Then select "Product Information" in the Table of Contents and then select "Roctavian: EPAR Product Information."

A Conditional Marketing Authorization (CMA) recognizes that the medicine fulfils an unmet medical need based on a positive benefit-risk assessment, and that the benefit to public health of the immediate availability on the market outweighs the uncertainties inherent to the fact that additional data are still required. BioMarin will provide further data from ongoing studies within defined timelines to confirm that the benefits continue to outweigh the risks, building on what already constitutes the largest clinical data package for gene therapy in hemophilia A. Conversion to a standard marketing authorization will be contingent on the provision of additional data from currently ongoing Roctavian clinical studies, including longer-term follow up of patients enrolled in the pivotal trial GENEr8-1, as well as a study investigating efficacy and safety of ROCTAVIAN with prophylactic use of corticosteroids (Study 270-303), for which enrollment is now complete.

Orphan drug designation is reserved for medicines treating rare (affecting not more than five in 10,000 people in the EU), life-threatening or chronically debilitating diseases. Authorized orphan medicines benefit from ten years of market exclusivity, protecting them from competition with similar medicines with the same therapeutic indication, which cannot be marketed during the exclusivity period.

BioMarin remains committed to bringing Roctavian to eligible patients with severe hemophilia A in the United States and is targeting a Biologics License Application (BLA) resubmission for Roctavian by the end of September 2022. Typically, BLA resubmissions are followed by a six-month review procedure. However, the Company anticipates three additional months of review may be necessary based on the number of data read-outs that will emerge during the procedure.

Robust Clinical Program

BioMarin has multiple clinical studies underway in its comprehensive gene therapy program for the treatment of hemophilia A. In addition to the global Phase 3 study GENEr8-1 and the ongoing Phase 1/2 dose escalation study, the Company is also conducting a Phase 3B, single arm, open-label study to evaluate the efficacy and safety of Roctavian at a dose of 6e13 vg/kg with prophylactic corticosteroids in people with hemophilia A (Study 270-303). Also ongoing are a Phase 1/2 Study with the 6e13 vg/kg dose of Roctavian in people with hemophilia A with pre-existing AAV5 antibodies (Study 270-203) and aa Phase 1/2 Study with the 6e13 vg/kg dose of Roctavian in people with hemophilia A with active or prior Factor VIII inhibitors (Study 270-205).

Safety Summary

Overall, single 6e13 vg/kg dose of Roctavian has been well tolerated with no delayed-onset treatment related adverse events. The most common adverse events (AE) associated with Roctavian occurred early and included transient infusion associated reactions and mild to moderate rise in liver enzymes with no long-lasting clinical sequelae. Alanine aminotransferase (ALT) elevation (113 participants, 80%), a laboratory test of liver function, remained the most common adverse drug reaction. Other adverse reactions included aspartate aminotransferase (AST) elevation (95 participants, 67%), nausea (52 participants, 37%), headache (50 participants, 35%), and fatigue (42 participants, 30%). No participants developed inhibitors to Factor VIII, thromboembolic events or malignancy associated with Roctavian.

About Hemophilia A

People living with hemophilia A lack sufficient functioning Factor VIII protein to help their blood clot and are at risk for painful and/or potentially life-threatening bleeds from even modest injuries. Additionally, people with the most severe form of hemophilia A (Factor VIII levels <1%) often experience painful, spontaneous bleeds into their muscles or joints. Individuals with the most severe form of hemophilia A make up approximately 50 percent of the hemophilia A population. People with hemophilia A with moderate (Factor VIII 1-5%) or mild (Factor VIII 5-40%) disease show a much-reduced propensity to bleed. Individuals with severe hemophilia A are treated with a prophylactic regimen of intravenous Factor VIII infusions administered 2-3 times per week (100-150 infusions per year) or a bispecific monoclonal antibody that mimics the activity of Factor VIII administered 1-4 times per month (12-48 infusions per year). Despite these regimens, many people continue to experience breakthrough bleeds, resulting in progressive and debilitating joint damage, which can have a major impact on their quality of life.

Hemophilia A, also called Factor VIII deficiency or classic hemophilia, is an X-linked genetic disorder caused by missing or defective Factor VIII, a clotting protein. Although it is passed down from parents to children, about 1/3 of cases are caused by a spontaneous mutation, a new mutation that was not inherited. Approximately 1 in 10,000 people have hemophilia A.

Conference Call and Webcast to be Held Wed., Aug. 24th at 8:00 pm Eastern

BioMarin will host a conference call and webcast to discuss the EC approval today, Wed., Aug. 24th at 8:00 pm Eastern. This event can be accessed in the investor section of the BioMarin website at https://investors.biomarin.com/events-presentations.

U.S./Canada Dial-in Number: 800-831-4163

Replay Dial-in Number: 800-645-7964

International Dial-in Number: 213-992-4616

Replay International Dial-in Number: 757-849-6722

(No ID required for live call)

Playback ID: 9184

About BioMarin

BioMarin is a global biotechnology company that develops and commercializes innovative therapies for people with serious and life-threatening genetic diseases and medical conditions. The Company selects product candidates for diseases and conditions that represent a significant unmet medical need, have well-understood biology and provide an opportunity to be first-to-market or offer a significant benefit over existing products. The Company's portfolio consists of eight commercial products and multiple clinical and preclinical product candidates for the treatment of various diseases. For additional information, please visit http://www.biomarin.com.

Forward-Looking Statements

This press release contains forward-looking statements about the business prospects of BioMarin Pharmaceutical Inc. (BioMarin), including without limitation, statements about: the number of adults across Europe, the Middle East, and Africa who are affected by severe hemophilia A; the number of adults in the countries within BioMarin's footprint covered by the EMA approval who have severe hemophilia A and are indicated for Roctavian; BioMarin anticipating additional access to Roctavian for patients outside of the EU through named patient sales based on the EMA approval in countries in the Middle East, Africa and Latin America and the expectation that additional market registrations will be facilitated by the EMA license; the potential for Roctavian to be a one-time infusion protecting patients from bleeds for several years and freeing them from the burden of regular infusions; Roctavian potentially offering a significant benefit to those affected with severe hemophilia A; Roctavian potentially transforming how healthcare professionals and the patient community think about caring for bleeding disorders; BioMarin's plans to provide further data from ongoing studies within defined timelines to confirm that the benefits of Roctavian continue to outweigh the risks; conversion of Roctavian's CMA to a standard marketing authorization; BioMarin's plans to re-submit a BLA for Roctavian to the FDA by the end of September 2022; and the duration of the FDA's review procedure of BioMarin's BLA resubmission for Roctavian. These forward-looking statements are predictions and involve risks and uncertainties such that actual results may differ materially from these statements. These risks and uncertainties include, among others: the results and timing of current and planned preclinical studies and clinical trials of Roctavian; additional data from the continuation of the clinical trials of Roctavian, any potential adverse events observed in the continuing monitoring of the participants in the clinical trials; the content and timing of decisions by the FDA, the EC and other regulatory authorities, including decisions to grant additional marketing registrations based on an EMA license; the content and timing of decisions by local and central ethics committees regarding the clinical trials; our ability to successfully manufacture Roctavian for the clinical trials and commercially; our ability to provide the additional data from currently ongoing Roctavian clinical studies to support the conversion from a CMA to a standard marketing authorization; and those and those factors detailed in BioMarin's filings with the Securities and Exchange Commission (SEC), including, without limitation, the factors contained under the caption "Risk Factors" in BioMarin's Quarterly Report on Form 10-Q for the quarter ended June 30, 2022 as such factors may be updated by any subsequent reports. Stockholders are urged not to place undue reliance on forward-looking statements, which speak only as of the date hereof. BioMarin is under no obligation, and expressly disclaims any obligation to update or alter any forward-looking statement, whether as a result of new information, future events or otherwise.

BioMarin is a registered trademark of BioMarin Pharmaceutical Inc and ROCTAVIAN is a trademark of BioMarin Pharmaceutical Inc.

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Traci McCarty

Debra Charlesworth

BioMarin Pharmaceutical Inc.

BioMarin Pharmaceutical Inc.

(415) 455-7558

(415) 455-7451

SOURCE BioMarin Pharmaceutical Inc.

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