Category Archives: Gene Medicine

COLUMBUS, OHIO A novel method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities. The study, led by researchers at The Ohio State University Wexner Medical Center and The Ohio State University College of Medicine, offers new hope to those living with incurable genetic and neurodegenerative diseases.

Research findings are published online in the journal Nature Communications.

This study describes the findings from the targeted delivery of gene therapy to midbrain to treat a rare deadly neurodevelopmental disorder in children with a neurogenetic disease, aromatic L-amino acid decarboxylase (AADC) deficiency characterized by deficient synthesis of dopamine and serotonin.

Only about 135 children worldwide are known to be missing the enzyme that produces dopamine in the central nervous system, which fuels pathways in the brain responsible for motor function and emotions. Without this enzyme, children lack muscle control, and are usually unable to speak, feed themselves or even hold up their head. They also suffer from seizure-like episodes called oculogyric crises that can last for hours.

Remarkably, these episodes are the first symptom to disappear after gene therapy surgery, and they never return, said study co-author Dr. Krystof Bankiewicz, professor of neurological surgery at Ohio State College of Medicine who leads the Bankiewicz Lab. In the months that follow, many patients experience life-changing improvements. Not only do they begin laughing and have improved mood, but many are able to begin speaking and even walking. They are making up for the time they lost during their abnormal development.

The directed gene therapy in seven children ages 4 to 9 who were infused with the viral vector resulted in dramatic improvement of symptoms, motor function and quality of life. Six children were treated at UCSF Benioff Childrens Hospital in San Francisco and one at Ohio State Wexner Medical Center. This therapeutic modality promises to transform the treatment of AADC deficiency and other similar disorders of the brain in the future, Bankiewicz said.

During the gene therapy surgery, physicians infuse a benign virus programmed with specific DNA into precisely targeted areas of the brain. The infusion is delivered extremely slowly as surgeons monitor exactly how it spreads within the brain using real-time MRI imaging.

Really, what we're doing is introducing a different code to the cell, said Dr. James Brad Elder, director of neurosurgical oncology at Ohio State Wexner Medical Centers Neurological Institute. And we're watching the whole thing happen live. So we continuously repeat the MRI and we can see the infusion blossom within the desired nucleus.

Researchers believe this same method of gene therapy can be used to treat other genetic disorders as well as common neurodegenerative diseases, such as Parkinsons and Alzheimers disease. Clinical trials are underway to test this procedure in others living with debilitating and incurable neurological conditions.

The directed gene therapy, in these patients, resulted in dramatic improvement of symptoms, motor function and quality of life. This therapeutic modality promises to transform the treatment of AADC deficiency and other similar disorders of the brain in the future.

The findings described in this study are the culmination of decades of work by teams from multiple academic institutions, including University of California San Francisco, Washington University in St. Louis, Medical Neurogenetics Laboratory in Atlanta, St. Louis Childrens Hospital and Nationwide Childrens Hospital in Columbus, Ohio.

The research was supported by the National Institute of Neurological Disorders and Stroke and foundational grants, including the AADC Research Trust, the Pediatric Neurotransmitter Disease Association and funding from The Ohio State University.

This work provides a framework for the treatment of other human nervous system genetic diseases. Its our hope that this will be first of many ultra-rare and other neurologic disorders that will be treated with gene therapy in a similar manner, Bankiewicz said.

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Your Healthy Family: New gene therapy providing hope for those with rare genetic disorders - KOAA.com Colorado Springs and Pueblo News

Migraine is three times more prevalent in people with bipolar disorder or depression. The relationship between schizophrenia and migraine is less certain although glutamatergic and serotonergic neurotransmission are implicated in both. A shared genetic basis to migraine and mental disorders has been suggested but previous studies have reported weak or non-significant genetic correlations and five shared risk loci. Using the largest samples to date and novel statistical tools, we aimed to determine the extent to which migraines polygenic architecture overlaps with bipolar disorder, depression, and schizophrenia beyond genetic correlation, and to identify shared genetic loci. Summary statistics from genome-wide association studies were acquired from large-scale consortia for migraine (n cases=59,674; n controls=316,078), bipolar disorder (n cases=20,352; n controls=31,358), depression (n cases=170,756; n controls=328,443) and schizophrenia (n cases=40,675, n controls=64,643). We applied the bivariate causal mixture model to estimate the number of disorder-influencing variants shared between migraine and each mental disorder, and the conditional/conjunctional false discovery rate method to identify shared loci. Loci were functionally characterised to provide biological insights. Univariate MiXeR analysis revealed that migraine was substantially less polygenic (2.8K disorder-influencing variants) compared to mental disorders (8.1K-12.3K disorder-influencing variants). Bivariate analysis estimated that 0.8K (0.3K), 2.1K (SD=0.1K) and 2.3K (SD=0.3K) variants were shared between bipolar disorder, depression and schizophrenia, respectively. There was also extensive overlap with intelligence (1.8K, SD=0.3K) and educational attainment (2.1K, SD=0.3K) but not height (1K, SD=0.1K). We next identified 14 loci jointly associated with migraine and depression and 36 loci jointly associated with migraine and schizophrenia, with evidence of consistent genetic effects in independent samples. No loci were associated with migraine and bipolar disorder. Functional annotation mapped 37 and 298 genes to migraine and each of depression and schizophrenia, respectively, including several novel putative migraine genes such as L3MBTL2, CACNB2, SLC9B1. Gene-set analysis identified several putative gene-sets enriched with mapped genes including transmembrane transport in migraine and schizophrenia. Most migraine-influencing variants were predicted to influence depression and schizophrenia, although a minority of mental disorder-influencing variants were shared with migraine due to the difference in polygenicity. Similar overlap with other brain-related phenotypes suggests this represents a pool of pleiotropic variants which influence vulnerability to diverse brain-related disorders and traits. We also identified specific loci shared between migraine and each of depression and schizophrenia, implicating shared molecular mechanisms and highlighting candidate migraine genes for experimental validation. The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.

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Dissecting the shared genetic basis of migraine and mental disorders using novel statistical tools. - Physician's Weekly

ByGina Wadas

Viruses are experts at infiltrating the body, as the SARS-CoV-2 virus (and resulting COVID-19 pandemic) have amply demonstrated. But their efficiency in targeting specific and isolated cells also make them useful drug delivery vehicles, known as viral vectors.

Viral vectors are modified viruses that can act as couriers to transport therapeutic "packages" to specific diseased cells. These packages contain instructions with modified or designed DNA or RNA to correct or supplement a faulty or missing gene. For instance, the Johnson & Johnson COVID-19 vaccine uses viral vectors to transport modified genetic material from the SARS-CoV-2 virus to cells, generating an immune response.

Though viral vector-based gene therapies are among the most advanced treatments for many congenital and acquired diseases, producing them is complex and costly.

"One of the major challenges in viral vector gene therapy is how to improve the quality, purity, and cost of the manufactured viral vectors, so that we can use the smallest possible effective dose, reduce immune side effects, and lower the cost of treatments," said Hai-Quan Mao, associate director and core faculty member of the Institute for NanoBioTechnology. He is also a professor in the departments of Materials Science and Engineering and Biomedical Engineering and a core faculty member at the Translational Tissue Engineering Center.

Hai-Quan Mao

Associate director, Institute for NanoBioTechnology

To address this challenge, Mao and his team are teaming up with Nolan Sutherland, senior scientist at bluebird bio, a Cambridge, Massachusetts-based biotechnology company that develops gene therapies. The partnership started about two years ago when Yizong Hu, a biomedical engineering PhD student under the mentorship of Mao, was at an annual meeting for the American Society for Gene and Cell Therapy presenting his research on a new particle assembly technology. Sutherland heard the presentation and approached Hu to discuss the technology and its application to the production of lentiviral vectors, which are made from a family of viruses that infect people by reverse transcription of their RNA into DNA in their host cells' genome.

Sutherland thought that the Mao team's approach might help streamline transfection, a key step in producing viral vectors. During transfection, a polymer solution is combined with a mixture of DNA plasmids to form transfection particles, a cumbersome procedure involving complicated solution blending and strictly timed dosing.

Mao, Hu, and Yining Zhu, also a biomedical engineering PhD student, developed a more effective and shelf-stable formulation of DNA particles in a ready-to-dose form. They also discovered that size-controlled sub-micron particles are most effective in transfecting cells and producing viral vectors. This production method is based on the team's years of experience in controlling transfection vehicle characteristics to enhance performances and stability.

The team members validated their findings with Sutherland at bluebird bio using that company's bioreactor. They compared the new method with the industry standard, and the results showed improved vector production yield, shelf stability, handling stability, and quality control of the transfection process.

"With the drastic increase in demand for lentiviral vector-based cell therapy products ... this new technology will greatly improve the production quality, consistency, and yield of our therapeutic LVVs," Sutherland said.

The team reported its findings in Nano Letters and is scaling up production with an eye to transferring the technology to the marketplace.

"This work represents a great example how we can partner with corporate collaborators to accelerate the translation of discoveries on the bench to the industry. This type of collaboration with industry provides us opportunities to identify the technical gaps in the engineering solutions that we develop, and fine tune them to better address the real-world problems in a more targeted fashion," Mao said.

According to Sutherland, the partnership with Mao and his team has "allowed bluebird to pursue high risk/reward innovation in a space outside of its core expertise. The team has a keen eye for application to industry which has made the partnership incredibly productive."

Team members say that this new particle engineering technology will find a wide range of applications in the manufacture of a variety of viral vectors for gene and cell therapy applications.

Also contributing to the project are Jordan Green, professor in the Department of Biomedical Engineering and associate member at the INBT, and Sashank Reddy, assistant professor of plastic and reconstructive surgery at Johns Hopkins Medicine, medical director at Johns Hopkins Technology Ventures, and affiliate faculty member at the INBT.

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Researchers partner with industry to create better gene therapy tools - The Hub at Johns Hopkins

When she isnt pursuing her favorite heart-pumping activities of running, swimming, or cycling, Sharlene M. Day, a presidential associate professor of cardiovascular medicine and director of Translational Research for the Penn Cardiovascular Institute, is focused on the heart in another way; trying to unlock and treat the mysteries of genetic heart disease.

As part of her research at the Day Lab, Day integrates translational and clinical science to understand the full spectrum of genetic heart disease evolution and progression, from gene mutations in heart muscle cells to ways of predicting negative outcomes in patients. Clinically, she sees patients with hypertrophic cardiomyopathy, a condition where the heart muscle becomes thick making it harder for blood to leave the heart, and other genetic heart conditions at the Penn Center for Inherited Cardiac Disease, such as inherited arrhythmias, high blood cholesterol, Marfan syndrome and familial amyloidosis. Her research program primarily focuses on these same conditions.

A physician scientist, Day completed her residency, followed by a cardiology fellowship, and a postdoctoral research fellowship at the University of Michigan before joining the faculty there, and spent 24 years there before coming to Penn. Day was recruited to Penn Medicine to lead initiatives in translational research within the Cardiovascular Institute and to grow the clinical and academic mission in the Penn Center for Inherited Cardiovascular Disease.

Very early on in my training, I became fascinated with the interplay between genetics and cardiac physiology that manifest in very unique observable cardiac traits and complicated disease trajectories including both heart failure and arrhythmias, also known as irregular heartbeats, says Day.

This story is by Sophie Kluthe. Read more at Penn Medicine News.

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Getting to the heart of genetic cardiovascular diseases | Penn Today - Penn Today

SAN RAFAEL, Calif., July 19, 2021 /PRNewswire/ --BioMarin Pharmaceutical Inc. (NASDAQ: BMRN) today announced new data for valoctocogene roxaparvovec, an investigational gene therapy for the treatment of adults with severe hemophilia A, in its positive pivotal study, GENEr8-1, during an oral presentation at the International Society on Thrombosis and Haemostasis (ISTH) 2021 Virtual Congress. The pivotal study demonstrated superiority to Factor VIII prophylaxis in key clinical efficacy endpoints. With 134 participants, this is the largest global Phase 3 study to date for gene therapy in hemophilia. All participants in the study received a single dose of valoctocogene roxaparvovec and completed a year or more of follow-up. Top-line one-year results from this study were previously communicated in January 2021.

New data presented at ISTH include more details on annualized bleeding rate (ABR) in all study participants and annualized Factor VIII utilization rate, in terms of international units per kilogram per year (IU/kg/year) of replacement Factor VIII. Over 90 percent (N=134) of all participants in the GENEr8-1 study had an annualized bleed rate (ABR) of zero or a lower bleed rate than baseline after week 4 after treatment with valoctocogene roxaparvovec.

New data presented at ISTH also include information on Factor VIII utilization after treatment with valoctocogene roxaparvovec. Mean annualized Factor VIII utilization rate, among a pre-specified group of prior participants in a non-interventional baseline observational study (rollover population; N=112) decreased from baseline on Factor VIII prophylaxis by 99% from 3961.2 (median 3754.4) to 56.9 (median 0) IU/kg/year after week 4 after treatment with valoctocogene roxaparvovec (p-value <0.001).

As previously shared in January 2021, data from the pre-specifiedrollover population(N=112)in the GENEr8-1 study with a mean follow-up of 71.6 weeks demonstrated that in the pre-specified primary analysis for ABR, calculated through each subject's last assessment, a single dose of valoctocogene roxaparvovec significantly reduced mean ABR by 84% from a prospectively collected 4.8 (median 2.8) at baseline to 0.8 (median 0.0) bleeding episodes per year (p-value <0.001).

In addition, the mean annualized Factor VIII infusion rate was reduced by 99% from 135.9 (median 128.6) to 2.0 (median 0.0) infusions per year (p-value <0.001).

Table 1: Mean/Median Annualized Bleeding Rate (ABR) and FVIII Infusion Rate in Phase 3 GENEr8-1 Study Rollover Population (N=112) after Week 4 Through Week 52 at November 2020 Cut Off

Phase 3

Rollover Population*

On Factor VIII prophylaxis, before valoctocogene roxaparvovec infusion

N=112

Phase 3

Rollover Population*

After valoctocogene roxaparvovec infusion

N=112

Mean (SD)

Median (IQR)

Mean (SD)

Median (IQR)

Annualized Bleeding Rate (bleeding episodes per year)

4.8 (6.5)

2.8 (0.0, 7.6)

0.8 (3.0)

0.0 (0.0, 0.0)

Annualized FVIIIUtilizationRate(IU per kgper year)

3961.2 (1751.5)

3754.4(2799.5, 4706.8)

56.9 (194.6)

0.0 (0.0,22.1)

Annualized FVIII Infusion Rate (infusions per year)

135.9 (52.0)

128.6 (104.1, 159.9)

2.0 (6.4)

0.0 (0.0, 0.9)

*See study description for patient population information.

Study participants also experienced a clinically meaningful increase in endogenous Factor VIII expression. At the end of the first year post-infusion with valoctocogene roxaparvovec, participants in the modified intent-to-treat (mITT) population (N=132) had a significant increase in mean endogenous Factor VIII expression level from an imputed baseline of 1 IU/dL to 42.9 IU/dL (median 23.9) (p-value <0.001) as measured by the chromogenic substrate (CS) assay, supporting the marked clinical benefits observed with abrogation of bleeding episodes and Factor VIII utilization and infusion rates. In a subset of the mITT population that had been dosed at least two years prior to the data cut date (N=17), Factor VIII expression declined from a mean of 42.2(median 23.9) IU/dL at the end of year one to 24.4 (median 14.7) IU/dL at the end of year two with continued hemostatic efficacy.

Table 2: Factor VIII Activity Levels in 12-Month Intervals

Median Factor VIII Activity, IU/dL

Phase 3 mITT Population*

(N=132)

Mean (SD)

Median

Phase 3 mITT Subset Population**

(N=17)

Mean (SD)

Median

Week 52

42.9 (45.5)

23.9 (11.9, 62.3)

42.2 (50.9)

23.9 (11.2, 55.0

Week 104

N/A

24.4 (29.2)

14.7 (6.4, 28.6)

*mITT= modified intent-to-treatpopulation, whichexcludes 2 HIV- positive subjects dosed 2 or more years prior to November 2020 data cut.

**Includes only HIV-negative subjects dosed 2 or more years prior to Nov 2020 data cut date. One participant was lost to follow-up at 66.1 weeks and was henceforth imputed to have a Factor VIII activity of 0 IU/dL through 104 weeks.

"The demonstrated bleed control at 52 weeks and beyond in this pivotal study supports our thesis that gene therapy can play an important role in the treatment of severe hemophilia A and potentially creates the possibility for a new treatment paradigm," said Margareth C. Ozelo, MD, PhD, Director, INCT do SangueHemocentroUNICAMP,University of Campinas and Lead Principal Investigator of the GENEr8-1 Study. "It is encouraging to see meaningful endogenous Factor VIII expression and decreases in bleeding and Factor VIII infusions for people in this study. These pivotal results contribute to the growing body of data to increase understanding of the safety and efficacy of gene therapy treatment over time."

"From the start of our valoctocogene roxaparvovec program, our goal remains to advance treatment options for people with severe hemophilia A in light of the unmet need in bleed control. Current prophylactic therapies for hemophilia A cannot maintain Factor VIII levels for sustained periods, leading to the need for frequent, regular infusions or injections while still having a risk of ongoing, unpredictable bleeds and unavoidable, irreversible joint damage even with standard of care treatment," said Hank Fuchs, M.D., President of Worldwide Research and Development at BioMarin. "These data build upon the foundation for a potential transformative treatment option that addresses the root cause of severe hemophilia A. Later at ISTH, we look forward to sharing five years of clinical data from the ongoing Phase 1/2 study with the longest duration of clinical experience, which complements this pivotal Phase 3 study, the largest study of a gene therapy in hemophilia A."

Valoctocogene Roxaparvovec Safety

Overall, in the Phase 3 study, valoctocogene roxaparvovec has been welltolerated by the 134participants who received a single 6e13 vg/kg dose. No participants withdrew due to adverse events. No participants developed inhibitors to Factor VIII, or experienced thromboembolic events. One participant was lost to follow-up. Infusion reactions were defined as any AEs occurring within 48 hours post-infusion. The most common infusion reactions were nausea (14.2%), fatigue (7.5%), and headache (6.0%). Systemic hypersensitivity during or following infusion was mitigated by slowing or pausing infusion and treating with supportive medications, as indicated. All four (3.0%) participants with an interruption due to infusion-related symptoms were able to complete their infusion. Twenty-two (16.4%) participants experienced a total of 43 serious adverse events (SAEs), and all SAEs resolved.

Common, steroid-related side effects can occur with temporary use of corticosteroid (or alternative immunosuppressants) to manage ALT elevation. ALT elevation was the most common AE. Overall, 79% of participants received corticosteroids per protocol as treatment for ALT elevation. The average duration of corticosteroid treatment was 33 weeks. Overall, 72% of participants who used any corticosteroidsreported AEs attributed to their use, most commonly acne, insomnia, cushingoid changes, and weight increased. Three participants reported SAEs attributed to corticosteroids. Other immunosuppressants were used by 29% of participants for ALT elevation due to contraindication, side effects, or poor or no response to corticosteroid treatment. No Grade 4 ALT elevations occurred, and no participants met Hy's law criteria for drug-induced liver injury.

GENEr8-1 Study Description

The global Phase 3 GENEr8-1 study evaluates superiority of valoctocogene roxaparvovec at the 6e13 vg/kg dose compared to FVIII prophylactic therapy. All study participants had severe hemophilia A at baseline, defined as less than or equal to 1 IU/dL of Factor VIII activity. The study included 134 total participants, all of whom had a minimum of 12 months of follow-up at the time of the data cut. The first 22 participants were directly enrolled into the Phase 3 study, 17 of whom were HIV-negative and dosed at least 2 years prior to the data cut date (referred to as the subset). The remaining 112 participants (rollover population) completed at least six months in a separate non-interventional study to prospectively assess bleeding episodes, Factor VIII use, and health-related quality of life while receiving Factor VIII prophylaxis prior to rolling over to receive a single infusion of valoctocogene roxaparvovec in the GENEr8-1 study.

Regulatory Status

The European Medicines Agency (EMA) validated BioMarin's resubmission of a Marketing Authorization Application (MAA) on July 15, 2021. In May 2021, the EMA granted the Company's request for accelerated assessment. Accelerated assessment potentially reduces the time frame for the EMA Committee for Medicinal Products for Human Use (CHMP) and Committee for Advanced Therapies (CAT) to review a MAA for an Advanced Therapy Medicinal Product (ATMP), although an application initially designated for accelerated assessment can revert to the standard procedure during the review for a variety of reasons.The decision to grant accelerated assessment has no impact on the eventual CHMP and CAT opinion on whether a marketing authorization should be granted. A CHMP and CAT opinion is anticipated in the first half of 2022.

The MAA submission includes safety and efficacy data from the 134 subjects enrolled in the Phase 3 GENEr8-1 study, all of whom have been followed for at least one year after treatment with valoctocogene roxaparvovec, as well as four and three 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.

In the United States, BioMarin intends to submit two-year follow-up safety and efficacy data on all study participants from the Phase 3 GENEr8-1 study to support the benefit/risk assessment of valoctocogene roxaparvovec, as previously requested by the Food and Drug Administration (FDA). BioMarin is targeting a Biologics License Application (BLA) resubmission in the second quarter of 2022, assuming favorable study results, followed by an expected six-month review by the FDA.

The FDA granted Regenerative Medicine Advanced Therapy (RMAT) designation to valoctocogene roxaparvovec inMarch 2021. RMAT is an expedited program intended to facilitate development and review of regenerative medicine therapies, such as valoctocogene roxaparvovec, that are intended to address an unmet medical need in patients with serious conditions. The RMAT designation is complementary to Breakthrough Therapy Designation, which the Company received in 2017.

In addition to the RMAT Designation and Breakthrough Therapy Designation, BioMarin's valoctocogene roxaparvovec also has received orphan drug designation from the FDA and EMA for the treatment of severe hemophilia A.The Orphan Drug Designation program is intended to advance the evaluation and development of products that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions.

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 actively enrolling participants in a Phase 3b, single arm, open-label study to evaluate the efficacy and safety of valoctocogene roxaparvovec at a dose of 6e13 vg/kg with prophylactic corticosteroids in people with hemophilia A. The Company is also running a Phase 1/2 Study with the 6e13 vg/kg dose of valoctocogene roxaparvovec in people with hemophilia A with pre-existing AAV5 antibodies, as well as another Phase 1/2 Study with the 6e13 vg/kg dose of valoctocogene roxaparvovec in people with hemophilia A with active or prior FVIII inhibitors.

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 (FVIII levels <1%) often experience painful, spontaneous bleeds into their muscles or joints. Individuals with the most severe form of hemophilia A make up approximately 45 to 50 percent of the hemophilia A population. People with hemophilia A with moderate (FVIII 1-5%) or mild (FVIII 5-40%) disease show a much-reduced propensity to bleed. The standard of care for adults with severe hemophilia A is a prophylactic regimen of replacement Factor VIII infusions administered intravenously up to two to three times per week or 100 to 150 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.

About ISTH

Founded in 1969, the ISTH is the leading worldwide not-for-profit organization dedicated to advancing the understanding, prevention, diagnosis and treatment of thrombotic and bleeding disorders. The ISTH is an international professional membership organization with more than 7,700 clinicians, researchers and educators working together to improve the lives of patients in more than 110 countries around the world. Among its highly regarded activities and initiatives are education and standardization programs, research activities, meetings and congresses, peer-reviewed publications, expert committees and World Thrombosis Day on 13 October.

About BioMarin

BioMarin is a global biotechnology company that develops and commercializes innovative therapies for serious and life-threatening rare and ultra-rare genetic diseases. The Company's portfolio consists of six commercialized products and multiple clinical and pre-clinical product candidates. For additional information, please visitwww.biomarin.com. Information on BioMarin's website is not incorporated by reference into this press release.

Forward-Looking Statements

This press release contains forward-looking statements about the business prospects of BioMarin Pharmaceutical Inc., including without limitation, statements about (i) the development of BioMarin's valoctocogene roxaparvovec program generally, (ii) the anticipated timing of a CHMP and CAT opinion in the first half of 2022, (iii) BioMarin's intention to submit to the U.S. Food and Drug Administration (FDA) two-year follow-up safety and efficacy data on all study participants from the GENEr8-1 study to support the benefit/risk assessment of valoctocogene roxaparvovec, (iv) BioMarin targeting resubmission of a Biologics License Application in the second quarter of 2022 assuming favorable study results, followed by an expected six-month review procedure by the FDA, (v) the anticipated Phase 1/2 study to be presented later at ISTH and (vi) the timing of the regulatory activities in the U.S andEurope, including validation and timing of potential approvals and the expected review procedures. 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: results and timing of current and planned preclinical studies and clinical trials of valoctocogene roxaparvovec, including final analysis of the above data and additional data from the continuation of these trials; any potential adverse events observed in the continuing monitoring of the patients in the clinical trials; the content and timing of decisions by the FDA, the EMA and other regulatory authorities; the content and timing of decisionsby local and central ethics committees regarding the clinical trials; our ability to successfully manufacture valoctocogene roxaparvovec for the clinical trials and commercially, if approved; and those other risks detailed from time to time under the caption "Risk Factors" and elsewhere in BioMarin's Securities and Exchange Commission (SEC) filings, including BioMarin's Quarterly Report on Form 10-Q for the quarter endedMarch 31, 2021, and future filings and reports by BioMarin... BioMarin undertakes no duty or obligation to update any forward-looking statements contained in this press release as a result of new information, future events or changes in its expectations.

BioMarin is a registered trademark of BioMarin Pharmaceutical Inc.

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BioMarin Announces Oral Presentation of Positive One-Year Results from Phase 3 Pivotal Trial with Valoctocogene Roxaparvovec Gene Therapy in Adults...

CHICAGO, May 25, 2021 /PRNewswire/ -- In-depth analysis and data-driven insights on the impact of COVID-19 included in this global regenerative medicine market report.

The regenerative medicine market is expected to grow at a CAGR of over 30% during the period 20202026.

Key Highlights Offered in the Report:

Key Offerings:

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Regenerative Medicine Market Segmentation

Regenerative Medicine Market by Application

Regenerative Medicine Market by Product

Regenerative Medicine Market by End-Users

Regenerative Medicine Market Dynamics

Regenerative medicine is expected to evolve and impact the overall healthcare industry in a positive way in the coming years. Among the global pharmaceutical companies, nearly 1000 companies are working on gene therapy, cell therapy, and tissue-engineering therapeutic products. Many companies worldwide have been developing a wide array of scaffolds that can be used in different tissue engineering applications, which cater to patients who require tissue and organ substitutes. The advances in scaffolds are attributable to several innovations in tissue scaffolds, bone scaffolds, and dental scaffolds. Tissue scaffolds basically act by integrating local cells in the desired shape of the scaffold after implantation. The scaffolds are of different types, such as cellusponge scaffolds in which cells are distributed in sponge pores and start growing. Collagen scaffolds have a unique porous network that allows diffusion of nutrients for cell growth, while hydrogel scaffolds have water content similar to natural tissue. Nanofiber scaffolds are transparent and ease cell imaging and quantification of cells.

Key Drivers and Trends fueling Market Growth:

Regenerative Medicine Market Geography

In 2020, North America accounted for a share of over 62% in the global regenerative medicine market. The region is expected to grow at a significant rate during the forecast period due to the highest number of RM companies in the world. The region has nearly 534 of the 987 RM companies worldwide. The growth is primarily attributable to the increasing incidence rates of different types of cancers such as non-Hodgkin lymphoma, Hodgkin lymphoma, melanoma of the skin, leukemia, and rare disorders, including Spinal muscular atrophy and multiple sclerosis. Cancer is the leading cause of death in North America. In 2018, nearly 1.9 million new cancer cases were reported in the North American region, along with 693,000 deaths. In the North American region, the US shows the highest prevalence rate for cancers such as non-Hodgkin lymphoma and other life-threatening rare diseases.

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Regenerative Medicine Market by Geography

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