Category Archives: Genetic Therapy

Even in the midst of the COVID-19 pandemic, the medical community made advances throughout 2020. Here are 5 of the years most impactful innovations.

Overall, 2020 has been a tumultuous year. From a health perspective, its been one turned upside down with a deadly global pandemic reorienting how we live our lives and relate to others.

The COVID-19 pandemic has justifiably dominated headlines and attention from media, policymakers, and health officials alike.

While its clearly the defining public health, cultural, economic even political event of the year, the pandemic shouldnt obscure the fact that 2020 was also a time of great medical innovation.

From breakthroughs in oncology, gene therapies, and heart health, to the development of COVID-19 vaccines that are now being administered domestically and around the world, theres a lot that the medical community can be proud of in 2020.

Healthline touched base with leading experts about some of the most impactful medical advances of the year and how they hint at a more hopeful tomorrow.

Almost every expert Healthline interviewed agreed that gene editing was one of the big stories of the year.

In October, Emmanuelle Charpentier and Jennifer A. Doudna were awarded the Nobel Prize in Chemistry for discovering the CRISPR/Cas9 genetic scissors. (Just five other women have won this prize before).

This gene scissor tool is what it sounds like enzymes snip out pieces of DNA to restore them to their normal function, Dr. William Morris, executive medical director of Cleveland Clinic Innovations, told Healthline.

Charpentier and Doudna showed that these genetic tools could be controlled to cut any kind of DNA molecule at a designated location not just distinguish DNA from viruses, as these scissors exist in their natural form.

Essentially, it means we can rewrite the code of life, according to the Nobel Prizes official announcement.

Morris said that this innovation has wide-ranging ramifications for people who have a wide range of genetic conditions.

He cited sickle cell disease, a condition where malformed sickle-shaped red blood cells cause blockages in blood flow, preventing the protein hemoglobin from effectively ferrying needed oxygen through the body.

Morris said these microscopic tools can cut out these genetic errors.

There have only been a handful of drugs to treat these kinds of conditions in the past.

Now, this kind of development allows you to remove the error and replace the [genetic] code, kind of like in your computer or your iPhone if you downloaded a patch for new software to repair an app that always crashes thats what this is, Morris explained.

Its so earth-shatteringly amazing to tell these patients who otherwise faced an entire lifetime of pain and suffering. You can now use the word cure, which is unbelievable to think about, he said.

Olivier Elemento, PhD, director of the Englander Institute for Precision Medicine at Weill Cornell Medicine in New York City, told Healthline that 2020 is the year of the genetic code.

Were really able to use the genetic code in humans and viruses to help humanity in ways we were not equipped to before, in ways we couldnt do before, Elemento said.

He added that gene therapy in general, along with this CRISPR technology, is pretty extraordinary.

This more comprehensive understanding of genetics extends beyond the Nobel Prize.

For instance, Elemento said Weill Cornell Medicine, where he currently works, along with New York-Presbyterian Hospital and Illumina Inc. recently announced an initiative to sequence the genome of thousands of patients.

The more we understand about genetics and gene therapies, the more improved our precision medicine capacity will be opening up the possibilities of creating targeted therapies for all kinds of conditions.

Recently, the American Heart Association released its own list of innovations in medical treatments.

The spotlight includes a new phase 3 study that could change the way hypertrophic cardiomyopathy (when the heart muscle thickens and can stiffen) is treated.

It also highlights new treatments that might change up the first-line treatment for atrial fibrillation (AFib) a new minimally invasive surgery to prevent stroke and a new trial that reveals more treatment might not necessarily mean better treatment for coronary heart disease.

American Heart Association President Dr. Mitchell S.V. Elkind, MS, FAAN, FAHA, wrote in an email to Healthline that all of these advances over the past year reflect connections between seemingly disparate areas of medicine and the fact that we are most successful when we break down the barriers between fields.

In order to tackle an issue as wide ranging as heart disease, for instance, it takes an interdisciplinary, comprehensive approach.

For example, we learned more this year about the unexpected ways in which medicines designed to treat diabetes, the sodium glucose transporter 2 inhibitors, or SGLT2 inhibitors, help patients with heart failure, even those without diabetes, he added.

Elkind also cited our growing understanding of how connections between infectious diseases like the flu and COVID-19 are tied to greater risk for heart disease and stroke.

Often, the most important advances occur when experts from different areas work together in creative ways to solve a difficult problem, he wrote.

When asked if there was one particular heart health innovation that stood out the most to him, Elkind said that what resonated with him was something not tied to fancy medications or groundbreaking research.

An analysis of people from across the U.S. showed that rates of blood pressure control have begun to decline in the U.S., after almost two decades of better control. High blood pressure is one of the most important and easily treated risk factors for stroke and heart disease, and so this backsliding is especially alarming, he added.

He stressed that the study also pointed to the impact that having health insurance has on controlling ones blood pressure.

Those with some form of health insurance had blood pressure control rates of 4354 percent, while for those without insurance, it was only 24 percent, Elkind explained.

Improving access to quality care is one of the best ways we have to improve health, and that is where we at the American Heart Association will be placing our efforts in the coming years, he said.

Benjamin Neel, MD, PhD, director of the Perlmutter Cancer Center at NYU Langone Health, said 2020 has been a year thats seen cancer research push forward on multiple fronts.

He said technologies are in development for early detection of cancer by way of blood tests.

Its been known for quite some time that tumors release DNA into the blood stream, we have technology developing from the standpoint of monitoring tumors, conducting sensitive tests for tumors, for tests for recurrence of cancers and protein-based tests, Neel told Healthline, outlining current research.

He also cited technology that modulates the regulatory DNA sequence patterns which refers to the part of the DNA molecule that can change the way a gene expresses itself in a living thing to pinpoint when methylation patterns might point to the development of cancer.

Among other research highlights over the past year, Neel said researchers have been developing new ways of drugging genetic mutations.

He mentioned work being done in developing a compound to degrade the androgen receptor for prostate cancer cells what allows these cancer cells to grow.

One of the biggest changes this year came in the form of how our new normal work-from-home lifestyle has impacted medicine.

As more and more people stay away from offices and public spaces, theyre turning to telemedicine. The Zoom screen is the new doctors office.

Morris said that, while this isnt a medical discovery per se, its a crucial in some ways life-saving development for how we relate to healthcare in our lives.

Out of this whole pandemic, one of the things weve discovered as clinicians is that we need to see patients where they are and not force them to cross state lines, Morris said. While we had telemedicine, we had some patients over Skype and video visits, there were clear disincentives and policies in place against people easily crossing state lines to seek medical care, of receiving care remotely.

He said the pandemic facilitated a push at the government level and with state and federal regulators to reduce barriers to these tools that are critical lifelines for patients.

Even when healthcare professionals couldnt always see patients in person this year, the embrace of telemedicine has resulted in unprecedented increases in the adoption and use of these tools and seeking care, Morris added.

This pandemic has challenged us to question old perceptions and policies, so that was a very positive thing, he stressed.

Innovation doesnt necessarily have to be an aha moment in a lab or something right in front of us, he said. Its unfortunate we needed a pandemic or a challenge to sometimes see a barrier, and sometimes that barrier is us.

This year, a possible breakthrough in Alzheimers disease research and treatment came in the form of a blood test that can diagnose this progressive form of dementia.

While the news is huge, the test is still in the trial phase.

If ultimately approved, a simple test for the condition would be a game changer.

There are as many as 5 million people living with Alzheimers in the United States, a number that will likely triple by 2060, according to the Centers for Disease Control and Prevention (CDC).

While this test has yet to go through all the proper approvals, a company distributed the first publicly available Alzheimers blood test this fall.

As 2020 comes to a close, experts are looking to a more hopeful new year.

For its part, Cleveland Clinic, which enters its centennial next year, released a list of the predicted top 10 innovations of 2021.

Morris said that while many think of this year as fraught and divisive full of tragedy and setbacks looking back at these innovations shows theres always something to be grateful for and look forward to.

Elemento said that he expects a biotech and pharma boom in the next few years.

Citing the breakthroughs in gene therapies and genetic manipulation indicate what will be a continual embrace of this kind of medical technology.

All these technologies, now everyone knows they exist and that they can be used for good, it will be a big boom for these technologies, Elemento added.

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5 Medical Innovations You Probably Didn't Notice Happened in 2020 - Healthline

Dublin, Dec. 30, 2020 (GLOBE NEWSWIRE) -- The "CAR-T - Pipeline Insight, 2020" drug pipelines has been added to ResearchAndMarkets.com's offering.

The "CAR-T - Pipeline Insight, 2020," report provides comprehensive insights about 250+ companies and 250+ pipeline drugs in CAR-T pipeline landscape. It covers the pipeline drug profiles, including clinical and nonclinical stage products. It also covers the therapeutics assessment by product type, stage, route of administration, and molecule type. It further highlights the inactive pipeline products in this space.

CAR-T: Overview

CAR-T is a type of treatment in which a patient's T cells (a type of immune system cell) are changed in the laboratory so they will attack cancer cells. T cells are taken from a patient's blood. Then the gene for a special receptor that binds to a certain protein on the patient's cancer cells is added to the T cells in the laboratory. The special receptor is called a chimeric antigen receptor (CAR). Large numbers of the CAR T cells are grown in the laboratory and given to the patient by infusion. CAR T-cell therapy is used to treat certain blood cancers, and it is being studied in the treatment of other types of cancer. Also called chimeric antigen receptor T-cell therapy.

Potential Mechanisms of CAR-T Cell-Mediated Toxicity

Significant progress has been made in the field of cancer immunotherapy, and CAR-T cells have shown outstanding efficacy in clinical trials. As with all technologies, CAR-T technologies also need to go through a long process of development, and CAR-T cell therapy has related acute and chronic toxicities that have become a roadblock on the developmental path. If these setbacks are not overcome, it will be difficult to make a more significant breakthrough.

Cytokine Release Syndrome

Cytokine release syndrome (CRS) is the most common toxic side effect in CAR-T cell therapy. CRS is a systemic inflammatory response caused by the significant increase in cytokines accompanied by the rapid in vivo activation and proliferation of CAR-T cells, usually occurring within a few days after the first infusion. CRS is a clinical condition with mild symptoms of fever, fatigue, headache, rash, joint pain, and myalgia. Severe CRS cases are characterized by tachycardia, hypotension, and high fever. Mild to moderate CRS is usually self-limiting and can be managed through close observation and supportive care. Severe CRS must be treated with tocilizumab or steroids alone for intensive treatment.

Advances in Research of CAR-T Cell Therapy for Solid Tumors

Although early CAR-T cell trials of solid tumors did not show the same success as observed in leukemia trials, a better understanding of the multiple barriers seen in solid tumors could promote the design of clinical trials for CAR-T cells. In this early stage of clinical development, CAR-T cells offer much hope. The ability of genetic manipulation techniques to modify CAR-T cells provides almost unlimited opportunities for other changes and improvements, thus providing a strong desire for future success.

Global Landscape of CAR-T Cell Therapy

At present, CAR-T cells are widely used in cellular immunotherapy for various tumors. According to statistics, more than 300 clinical trials of CAR-T cell therapies have been approved by many national drug regulatory agencies, including the FDA of the United States. Statistical data from these clinical trials show that although the effects of various clinical trials vary due to the use of different sources and the preparation techniques of CARs and T cells, as well as differences in pretreatment and combinations of drugs, overall, CAR-T cells are effective in treating tumors with an effective rate of 30% to 70% or even more than 90%. For example, the complete remission rate for r/r ALL treated with the Novartis drug CTL0l9, which the FDA has approved, is 93%. Perhaps CAR-T cell therapy will ultimately remedy the fate of human cancer.

CAR-T Emerging Drugs Chapters

This segment of the CAR-T report encloses its detailed analysis of various drugs in different stages of clinical development, including phase II, I, preclinical and Discovery. It also helps to understand clinical trial details, expressive pharmacological action, agreements and collaborations, and the latest news and press releases.

CAR-T: Therapeutic Assessment

This segment of the report provides insights about the different CAR-T drugs segregated based on following parameters that define the scope of the report, such as:

Major Players in CAR-T

There are approx. 250+ key companies which are developing the therapies for CAR-T. The companies which have their CAR-T drug candidates in the most advanced stage, i.e. phase III include, Janssen Research & Development, ViiV Healthcare, Sorrento Therapeutics, Celgene, Novartis, Abbott etc.

Report Highlights

Current Treatment Scenario and Emerging Therapies:

Key Players

Key Products

For more information about this drug pipelines report visit https://www.researchandmarkets.com/r/c6ze76

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

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Global CAR-T Pipeline Insight Report 2020: Overview, Landscape, Therapeutic Assessment, Current Treatment Scenario and Emerging Therapies -...

The global gene therapy market is expected to reach US$6.42 billion in 2024, witnessing growth at a CAGR of 19.29%, over the period 2020-2024. Growth in the gene therapy market has accrued due to the increasing prevalence of chronic diseases, rising healthcare expenditure, expanding urbanization, growth of gene therapy clinical trials and upsurge in economic growth. The market is anticipated to experience certain trends like rapid adoption of personalized medicine, growing occurrence of genetic disorders, advancements in gene therapy and increasing R&D funding. The growth of the market would be challenged by side effects of gene therapy and ethical and safety concerns and high cost of the treatment.

The global gene therapy market has been segmented on the basis of cell type, vector type, application, end-user and region. Depending on the cell type, the market can be bifurcated into somatic cell gene therapy and germ cell gene therapy. According to the vector type, the global gene therapy market can be categorized into retrovirus & gammaretrovirus, adeno-associated viruses (AAV), lentivirus, adenovirus, modified herpes simplex virus and non-viral plasmid vector. Whereas, on the basis of application, the market can be split into oncological disorders, neurological disorders, infectious diseases, cardiovascular diseases, rare diseases and others. Further, in terms of end-user, the global gene therapy market can broadly be segmented into hospitals, specialty treatment centers and other end-users.

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The fastest growing regional market is North America due to the rising incidence of cancer and other target diseases, increasing favorable reimbursement scenario in the region and improvements in healthcare infrastructure. Further, the sudden outbreak of COVID-19 is causing an adverse disruption on the overall economy and society, affecting the rate of gene therapy procedures and clinical trials, which is expected to negatively impact the growth of the global gene therapy market during the forecasted period.

Scope of the report:

Key Target Audience:

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Table of Content

1. Market Overview1.1 Introduction1.2 Diseases Treated by Gene Therapy1.3 Process of Gene Therapy1.4 Types of Gene Therapy1.5 Application Areas for Gene Therapy1.6 Gene Therapy Techniques1.7 Advantages & Disadvantages of Gene Therapy

2. Impact of COVID-192.1 Economic Impact2.2 Decline in Global GDP2.3 Decline in Industrial Production2.4 Impact on Gene Therapy2.5 Impact on Clinical Trials of Gene Therapy

3. Global Market Analysis3.1 Global Gene Therapy Market by Value3.2 Global Gene Therapy Market Forecast by Value3.3 Global Gene Therapy Market by Cell Type3.3.1 Global Somatic Cell Gene Therapy Market by Value3.3.2 Global Somatic Cell Gene Therapy Market Forecast by Value3.3.3 Global Germ Cell Gene Therapy Market by Value3.3.4 Global Germ Cell Gene Therapy Market Forecast by Value3.4 Global Gene Therapy Market by Vector Type3.4.1 Global Retrovirus & Gammaretrovirus Gene Therapy Market by Value3.4.2 Global Retrovirus & Gammaretrovirus Gene Therapy Market Forecast by Value3.4.3 Global Adeno-Associated Viruses Gene Therapy Market by Value3.4.4 Global Adeno-Associated Viruses Gene Therapy Market Forecast by Value3.4.5 Global Lentivirus Gene Therapy Market by Value3.4.6 Global Lentivirus Gene Therapy Market Forecast by Value3.4.7 Global Adenovirus Gene Therapy Market by Value3.4.8 Global Adenovirus Gene Therapy Market Forecast by Value3.4.9 Global Modified Herpes Simplex Virus Gene Therapy Market by Value3.4.10 Global Modified Herpes Simplex Virus Gene Therapy Market Forecast by Value3.4.11 Global Non-Viral Plasmid Vector Gene Therapy Market by Value3.4.12 Global Non-Viral Plasmid Vector Gene Therapy Market Forecast by Value3.5 Global Gene Therapy Market by Application3.5.1 Global Oncological Disorders Gene Therapy Market by Value3.5.2 Global Oncological Disorders Gene Therapy Market Forecast by Value3.5.3 Global Neurological Disorders Gene Therapy Market by Value3.5.4 Global Neurological Disorders Gene Therapy Market Forecast by Value3.5.5 Global Infectious Disease Gene Therapy Market by Value3.5.6 Global Infectious Disease Gene Therapy Market Forecast by Value3.5.7 Global Cardiovascular Diseases Gene Therapy Market by Value3.5.8 Global Cardiovascular Diseases Gene Therapy Market Forecast by Value3.5.9 Global Rare Diseases Gene Therapy Market by Value3.5.10 Global Rare Diseases Gene Therapy Market Forecast by Value3.6 Global Gene Therapy Market by End-User3.6.1 Global Hospitals & Clinics Gene Therapy Market by Value3.6.2 Global Hospitals & Clinics Gene Therapy Market Forecast by Value3.6.3 Global Specialty Treatment Centers Gene Therapy Market by Value3.6.4 Global Specialty Treatment Centers Gene Therapy Market Forecast by Value3.7 Global Gene Therapy Market by Region

4. Regional Market Analysis4.1 North America4.1.1 North America Gene Therapy Market by Value4.1.2 North America Gene Therapy Market Forecast by Value4.2 Europe4.2.1 Europe Gene Therapy Market by Value4.2.2 Europe Gene Therapy Market Forecast by Value4.2.3 Europe Gene Therapy Market by Indication4.2.4 Europe Large B-Cell Lymphoma Gene Therapy Market by Value4.2.5 Europe Large B-Cell Lymphoma Gene Therapy Market Forecast by Value4.2.6 Europe Inherited Retinal Disease Gene Therapy Market by Value4.2.7 Europe Inherited Retinal Disease Gene Therapy Market Forecast by Value4.2.8 Europe ADA-SCID Gene Therapy Market by Value4.2.9 Europe ADA-SCID Gene Therapy Market Forecast by Value4.2.10 Europe Acute Lymphoblastic Leukemia Gene Therapy Market by Value4.2.11 Europe Acute Lymphoblastic Leukemia Gene Therapy Market Forecast by Value4.3 Asia Pacific4.3.1 Asia Pacific Gene Therapy Market by Value4.3.2 Asia Pacific Gene Therapy Market Forecast by Value.4 RoW4.4.1 RoW Gene Therapy Market by Value4.4.2 RoW Gene Therapy Market Forecast by Value

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Global Gene Therapy Market (By Cell Type, Vector Type, Application, End-User & Region): Insights & Forecast With Potential Impact Of COVID-19...

SAN FRANCISCO--(BUSINESS WIRE)--Audentes Therapeutics, an Astellas genetic medicines company, today announced that the U.S. Food and Drug Administration (FDA) has lifted the clinical hold for the ASPIRO clinical trial evaluating AT132 in patients with X-linked myotubular myopathy (XLMTM). XLMTM is a serious, life-threatening neuromuscular disease characterized by extreme muscle weakness, respiratory failure, and early death.

We are grateful for the efforts of our team and investigators who have worked tirelessly to answer the FDAs questions and we now look forward to resuming this study, said Natalie Holles, President and Chief Executive Officer of Audentes. We want to again extend our deepest sympathies to patients families impacted by the events earlier this year. We are deeply committed to the continued safe development of AT132 for the families and patients living with XLMTM, a disease with no existing treatments.

The company is now working to complete all clinical and regulatory activities necessary to resume dosing and plans to have discussions at a future date with the regulators on the path forward toward global registration filings for AT132.

About X-linked Myotubular MyopathyXLMTM is a serious, life-threatening, rare neuromuscular disease that is characterized by extreme muscle weakness, respiratory failure and early death. Mortality rates are estimated to be 50 percent in the first 18 months of life. For those patients who survive past infancy, there is an estimated additional 25 percent mortality by the age of 10. XLMTM is caused by mutations in the MTM1 gene that lead to a lack or dysfunction of myotubularin, a protein that is needed for normal development, maturation and function of skeletal muscle cells. The disease affects approximately 1 in 40,000 to 50,000 newborn males.

XLMTM places a substantial burden of care on patients, families and the healthcare system, including high rates of healthcare utilization, hospitalization and surgical intervention. More than 80 percent of XLMTM patients require ventilator support, and the majority of patients require a gastrostomy tube for nutritional support. In most patients, normal developmental motor milestones are delayed or never achieved. Currently, only supportive treatment options, such as ventilator use or a feeding tube, are available.

About the ASPIRO StudyASPIRO is a two-part, multinational, randomized, open-label ascending dose trial to evaluate the safety and preliminary efficacy of AT132 in XLMTM patients less than five years of age. Primary endpoints include safety (adverse events and certain laboratory measures) and efficacy (assessments of neuromuscular and respiratory function). Secondary endpoints include the burden of disease and health-related quality-of-life, and muscle tissue histology and biomarkers.

About AT132 for the treatment of X-linked Myotubular MyopathyAudentes is developing AT132, an AAV8 vector containing a functional copy of the MTM1 gene, for the treatment of XLMTM. AT132 may provide patients with significantly improved outcomes based on the ability of AAV8 to target skeletal muscle and increase myotubularin expression in targeted tissues following a single intravenous administration. The preclinical development of AT132 was conducted in collaboration with Genethon (www.genethon.fr).

AT132 has been granted Regenerative Medicine and Advanced Therapy (RMAT), Rare Pediatric Disease, Fast Track, and Orphan Drug designations by the U.S. Food and Drug Administration (FDA), and Priority Medicines (PRIME) and Orphan Drug designations by the European Medicines Agency (EMA).

About Audentes Therapeutics, Inc.Audentes Therapeutics, an Astellas company, is developing genetic medicines with the potential to deliver transformative value for patients. Based on our innovative scientific approach and industry leading internal manufacturing capability and expertise, we have become the Astellas Center of Excellence for the newly created Genetic Regulation Focus Area. We are currently exploring three gene therapy modalities: gene replacement, exon skipping gene therapy, and vectorized RNA knockdown, with plans to expand our focus and geographic reach under Astellas. We are based in San Francisco, with manufacturing and laboratory facilities in South San Francisco and Sanford, North Carolina.

About AstellasAstellas Pharma Inc. is a pharmaceutical company conducting business in more than 70 countries around the world. We are promoting the Focus Area Approach that is designed to identify opportunities for the continuous creation of new drugs to address diseases with high unmet medical needs by focusing on Biology and Modality. Furthermore, we are also looking beyond our foundational Rx focus to create Rx+ healthcare solutions combine our expertise and knowledge with cutting-edge technology in different fields of external partners. Through these efforts, Astellas stands on the forefront of healthcare change to turn innovative science into value for patients. For more information, please visit our website at https://www.astellas.com/en

Cautionary NotesIn this press release, statements made with respect to current plans, estimates, strategies and beliefs and other statements that are not historical facts are forward-looking statements about the future performance of Astellas. These statements are based on managements current assumptions and beliefs in light of the information currently available to it and involve known and unknown risks and uncertainties. A number of factors could cause actual results to differ materially from those discussed in the forward-looking statements. Such factors include, but are not limited to: (i) changes in general economic conditions and in laws and regulations, relating to pharmaceutical markets, (ii) currency exchange rate fluctuations, (iii) delays in new product launches, (iv) the inability of Astellas to market existing and new products effectively, (v) the inability of Astellas to continue to effectively research and develop products accepted by customers in highly competitive markets, and (vi) infringements of Astellas intellectual property rights by third parties.

Information about pharmaceutical products (including products currently in development) which is included in this press release is not intended to constitute an advertisement or medical advice.

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Audentes Therapeutics Announces FDA Lifts Hold on ASPIRO Clinical Trial of AT132 for Treatment of X-Linked Myotubular Myopathy (XLMTM) - Business Wire

Among patients with sickle cell disease (SCD), inhibition of BCL11A via gene knockdown is an effect target to induce fetal hemoglobin (HbF), and appears to be a promising avenue of treatment, according to research published in The New England Journal of Medicine.

While allogeneic hematopoietic stem cell transplantation remains the standard curative treatment for patients with SCD, it is associated with a high risk of adverse events (AEs) in elderly patients, including graft-vs-host disease.

There is evidence that high levels of erythrocyte HbF may help to reduce the frequency of sickle hemoglobin polymerization and erythrocyte sickling. BCL11A, a gene known to be involved with repressing HbF production in adults, is a promising therapeutic target in this patient population.

For this open-label pilot trial (ClinicalTrials.gov Identifier, NCT03282656), researchers enrolled patients with SCD to receive gene therapy, which involved infusion of CD34+ cells transduced with a lentiviral vector BCH-BB694, which has shown promise in preclinical study.

A total of 6 patients (aged 7-25 years) were enrolled in the study, and received BCH-BB694 gene. All patients presented with severe SCD symptoms, including stroke, priapism, or a vaso-occlusive event. The percentage of CD34+ cells transduced ranged from 62% to 100%, and the median patient follow-up after infusion was 18 months (range, 7-29).

In all evaluable patients, the HbF fraction of total hemoglobin increased and remained stable. At the most recent follow-up, the fraction of HbF increased from 20.4% to 41.5%, and HbF was broadly distributed in red blood cells. In addition, clinical manifestations of SCD were either less frequent or absent altogether.

Grade 3 nausea, priapism, and febrile neutropenia were among the AEs noted in a supplementary table; many of these were, furthermore, considered study-related.

On the basis of current HbF levels, percentage of F-cells [reported as a percentage of untransfused red cells], and HbF per F-cell, we predict that the patients in this study will have protection from sickling to prevent or significantly ameliorate both acute and chronic complications of sickle cell disease. Additional follow-up will clarify the long-term effects, the authors concluded.

Disclosure: Some authors have declared affiliations with or received funding from the pharmaceutical industry. Please refer to the original study for a full list of disclosures.

Esrick EB, Lehmann LE, Biffi A, et al. Post-transcriptional genetic silencing of BCL11A to treat sickle cell disease. N Engl J Med. Published online December 5, 2020. doi:10.1056/NEJMoa2029392

Read more from the original source:
BCL11A Inhibition to Induce Fetal Hemoglobin Shows Promise in Sickle Cell Disease - Hematology Advisor

Israeli biotechnologists have developed a system to repair damaged genes in the cells responsible for hearing. The study of mice produced what experts described as impressive.

A team from Tel Aviv University has just revealed a potential breakthrough treatment that involves inserting genetic material into hearing cells in the inner ear.

The inserted DNA replaces the damaged portion of the genome and allows the cells to function properly.

As the researchers point out, deafness is the most common cause of disability in the world.

According to the World Health Organization, there are about half a billion people with hearing loss on Earth, and that number is expected to double in the next few decades.

At the same time, one in every two hundred children is born with a hearing loss, and one in every thousand is born deaf.

In half of the cases of early congenital deafness, genetic mutations are the cause.

Science currently knows about hundreds of different genes related to deafness.

Meanwhile, the scientists in their study were able to prevent progressive hearing loss in mice infected with one of these mutations.

In this study, we focused on genetically determined deafness caused by a mutation in the SYNE4 gene. This is a rare type of deafness that was discovered in our laboratory a few years ago in two Israeli families and has since been recorded in Turkey and Great Britain Karen Avraham, co-author of the achievement.

Children who inherit the damaged gene from both parents are born with normal hearing but gradually lose it in childhood. The mutation causes the cell nucleus to be displaced in the hair cells of the inner ear cochlea, which act as sound receptors and form the basis of hearing. The damage leads to degeneration and consequently death of hair cells, - the specialist explains.

Scientists have used an innovative gene therapy.

They created a harmless, synthetic virus for her and used it to transfer genetic material.

We injected the virus into the inner ear of mice, where it reached hair cells, where it unleashed its genetic load. In this way, we fixed the defects in the hair cells, allowing them to mature and function normally, - says the researcher.

Scientists applied the treatment immediately after rodents were born.

The results are very promising. The treated mice developed normal hearing with a sensitivity nearly identical to that of healthy mice, without mutation, the professor says. Geoffrey Holt of Boston Childrens Hospital and Harvard Medical School.

Researchers are now working on similar therapies to target other mutations that cause deafness.

This is an important study that shows that inner ear gene therapy can be applied successfully to the SYNE4 mouse model for deafness to preserve hearing. The level of restored hearing is impressive. This study adds to the growing number of studies in the literature showing that gene therapy can be applied successfully to mouse models of loss. Hearing. It shows the amazing potential of gene therapy in treating deafness - commented Professor. Wade Shane of Johns Hopkins University School of Medicine, who was not involved in the study.

More information on the pages:

Scientists at TAU develop new gene therapy for deafness

https://www.embopress.org/doi/full/10.15252/emmm.202013259

(PAP)

Mat / agt /

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Hope for a gene therapy for hereditary deafness - R&R Magazine (www.randrlife.co.uk) Rest and Relax