LGMD

Genethon Pursues Different Strategies for Ensuring Patient Access to Gene Therapies for Rare Diseases

Retrieved on: 
Thursday, February 29, 2024
Science, Biotechnology, Research, Pharmaceutical, Health, Health Technology, Genetics, Clinical Trials, Duchenne, Crigler–Najjar syndrome, LGMD, Muscular dystrophy, Partnership, Food, Sarepta Therapeutics, Female, Duchenne muscular dystrophy, DSM-IV codes, Weakness, Doctor of Philosophy, Prevalence, Therapy, Muscle weakness, Patient, Disease, Male, IND, Pharmaceutical industry

Genethon , a non-profit research organization focused on developing gene therapies for rare diseases, today marks International Rare Disease Day by highlighting its efforts to bring gene therapies to patients suffering from rare diseases such as limb girdle muscular dystrophies, Crigler Najjar syndrome and Duchenne muscular dystrophy.

Key Points: 
  • Genethon , a non-profit research organization focused on developing gene therapies for rare diseases, today marks International Rare Disease Day by highlighting its efforts to bring gene therapies to patients suffering from rare diseases such as limb girdle muscular dystrophies, Crigler Najjar syndrome and Duchenne muscular dystrophy.
  • Globally more than 300 million people, most of them children, are living with 7,000 rare diseases.
  • Because patient populations are small, these diseases don’t readily fit into the biopharma industry’s business models.
  • “Despite challenges in generating interest with biopharma companies and investors, Genethon will never abandon patients suffering from rare and ultra-rare diseases,” said Dr. Revah.

Limb-Girdle Muscular Dystrophy Leaders Advance Collaborative Dialogue to Accelerate Drug Development to Address the Urgent Unmet Need in Limb-Girdle Muscular Dystrophy

Retrieved on: 
Tuesday, February 27, 2024
LGMD, Nationwide Children's Hospital, Analysis Group, OND, FDA, Clinical trial, Food, Drug development, Sarepta Therapeutics, Virginia Commonwealth University, Hospital, Treatment, Senior advisor, Documentation, University, CDER, Therapy, Keynote, Patient, Science, Limb–girdle muscular dystrophy

The meeting focused on six LGMD subtypes: 2A/R1, 2B/R2, 2C/R5, 2D/R3, 2E/R4, and 2I/R9.

Key Points: 
  • The meeting focused on six LGMD subtypes: 2A/R1, 2B/R2, 2C/R5, 2D/R3, 2E/R4, and 2I/R9.
  • We are thrilled that the workshop advanced a collaborative dialogue and brought people together from every facet of the drug development process to drive progress for patients.
  • This was truly a monumental event for the LGMD community and a model for others to follow in the future."
  • In-depth documentation of the workshop's findings and next steps is in progress and will be shared when available.

Sarepta Therapeutics Initiates Screening in EMERGENE, a Phase 3 Clinical Study of SRP-9003 for the Treatment of Limb-Girdle Muscular Dystrophy Type 2E/R4

Retrieved on: 
Tuesday, January 16, 2024
Health, FDA, Clinical Trials, Research, Science, Pharmaceutical, Biotechnology, LGMD, Quality of life, SRPT, Therapy, Disease, Muscular dystrophy, Sarepta Therapeutics, Pharmaceutical industry

Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that screening is underway in Study SRP-9003-301.

Key Points: 
  • Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that screening is underway in Study SRP-9003-301.
  • Also known as EMERGENE, Study 9003-301 is a Phase 3, multi-national, open-label study of SRP-9003 (bidridistrogene xeboparvovec) for the treatment of limb-girdle muscular dystrophy Type 2E (LGMD2E/R4), or beta sarcoglycanopathy.
  • EMERGENE will enroll 15 participants (ambulatory and non-ambulatory), aged 4 and older, and uses commercially representative process SRP-9003 material.
  • “We are pleased to share our continued progress in advancing SRP-9003, our investigational gene therapy candidate for LGMD2E, a rare form of LGMD with no treatments beyond symptom management.

Edgewise Therapeutics Highlights 2023 Accomplishments and Anticipated Milestones for 2024 at the 42nd Annual J.P. Morgan Healthcare Conference

Retrieved on: 
Tuesday, January 9, 2024
Biotechnology, Pharmaceutical, Health, Clinical Trials, McArdle, Ageing, MESA, Therapy, Muscular dystrophy, ARCH, FOX, HCM, LYNX, LGMD, Myopathy, Conference, Safety, FDA, Webcast, Biomarker, Food and Drug Administration, Exercise, Pharmacokinetics, Pharmaceutical industry

Ahead of the presentation, the Company highlighted its 2023 accomplishments and announced its anticipated key milestones for 2024.

Key Points: 
  • Ahead of the presentation, the Company highlighted its 2023 accomplishments and announced its anticipated key milestones for 2024.
  • MESA will provide continued access to EDG-5506 treatment to study participants who were previously enrolled in Edgewise studies.
  • Presentation at the 42nd Annual J.P. Morgan Healthcare Conference
    Edgewise will webcast its presentation today from the J.P. Morgan 42nd Annual Healthcare Conference at 10:30 am PT (1:30 pm ET).
  • A replay of the webcast will be available on Edgewise’s website for a limited time following the conference.

Limb-Girdle Muscular Dystrophy Scientific Leaders - Together With the FDA - Will Come Together for a Drug Development Workshop on February 8, 2024

Retrieved on: 
Wednesday, December 13, 2023
Food, OND, Therapy, Hospital, CBER, Patient, Nationwide Children's Hospital, Virginia Commonwealth University, FDA, CDER, Caregiver, Limb–girdle muscular dystrophy, University, Muscular dystrophy, Drug development, Pharmaceutical industry, Medical device, LGMD, Research

ROCKVILLE, Md., Dec. 13, 2023 /PRNewswire/ -- On February 8, 2024, The Speak Foundation, a patient-led 501(c)(3) organization for Limb-Girdle Muscular Dystrophy (LGMD), will be convening a multi-stakeholder LGMD Scientific Drug Development Workshop in Rockville, Maryland.

Key Points: 
  • ROCKVILLE, Md., Dec. 13, 2023 /PRNewswire/ -- On February 8, 2024, The Speak Foundation, a patient-led 501(c)(3) organization for Limb-Girdle Muscular Dystrophy (LGMD), will be convening a multi-stakeholder LGMD Scientific Drug Development Workshop in Rockville, Maryland.
  • The workshop will continue to drive the momentum for the sense of urgency needed by the patient community to accelerate LGMD drug development.
  • "This workshop is a continuing step to work with the FDA and LGMD scientific leaders on pushing critical drug development forward.
  • The LGMD Scientific Workshop will be a focused discussion with clinicians, scientific researchers, drug developers, regulators, patients and patient advocates on the characteristics of LGMD that drive drug development programs.

Sarepta Therapeutics Announces Third Quarter 2023 Financial Results and Recent Corporate Developments

Retrieved on: 
Wednesday, November 1, 2023
Biotechnology, FDA, Pharmaceutical, Health, Sino-Japanese Journalist Exchange Agreement, Priority review, Research, Sale, LGMD, Hart–Scott–Rodino Antitrust Improvements Act, PMOS, Patent, Food, PIN, Rare, RNA, GAAP, PRV, SRPT, Acquisition, Holocene, Sarepta Therapeutics, Food and Drug Administration, Disease, Interest, Clinical trial, Duchenne, Duchenne muscular dystrophy, University, Nationwide Children's Hospital, Depreciation, Leyland Royal Tiger PSU, BioMarin Pharmaceutical, Therapy, Investment, Patient, Hospital, Pharmaceutical industry, Reinsurance, Cryptocurrency, Fine chemical, Rare-earth element, Airline, Property management, Bank, Real estate, Life insurance, Note

Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today reported financial results for the third quarter 2023.

Key Points: 
  • Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today reported financial results for the third quarter 2023.
  • Total net product revenue stands at $309.3 million, growing 49 percent over the same quarter last year.
  • These non-GAAP measures are not intended to be considered in isolation or to replace the presentation of the Company’s financial results in accordance with GAAP.
  • All relevant non-GAAP measures are reconciled from their respective GAAP measures in the attached table “Reconciliation of GAAP Financial Measures to Non-GAAP Financial Measures.”

ATA-200, Atamyo Therapeutics’ Gene Therapy to Treat Limb-Girdle Muscular Dystrophy Type 2C/R5, Reaches Key Milestones with the Filing of a Clinical Trial Application in Europe and a Non-Dilutive Financing from France 2030 Program

Retrieved on: 
Tuesday, September 19, 2023
Biotechnology, Health, Genetics, Pharmaceutical, Clinical Trials, Muscular dystrophy, Clinical trial, Pathology, Hope, CTA, Biomarker, AAV, Weakness, Patient, SGCG, Liver, Entrepreneurship, Therapy, Environment, Disease, DSM-IV codes, Safety, LGMD, Pharmaceutical industry, Vaccine, Dietary supplement, FKRP

No curative treatment exists for this disease,” said Dr Sophie Olivier, Chief Medical Officer of Atamyo.

Key Points: 
  • No curative treatment exists for this disease,” said Dr Sophie Olivier, Chief Medical Officer of Atamyo.
  • “ATA-200 incorporates a new promoter that enhances the liver and cardiac safety of gene therapy,” said Isabelle Richard, Ph.D., Co-founder and Chief Scientific Officer of Atamyo.
  • ATA-200, the gene therapy for LGMD2C/R5, delivers a normal copy of the gene for production of γ-sarcoglycan.
  • In addition to its LGMD2C/R5 gene therapy, Atamyo is developing a clinical trial with ATA-100 gene therapy for LGMD2I/R9, related to deficiencies in FKRP; and is in IND-enabling studies for LGMD2A/R1, related to deficiencies in calpain protein.

Muscular Dystrophy Association Announces Research Grants Totaling $8.4 Million

Retrieved on: 
Wednesday, September 13, 2023
Muscular dystrophy, Mir-126, Muscular Dystrophy Association, SMA, SMN, University, Duchenne muscular dystrophy, EDMD, DM, Grant, Doctor of Philosophy, Barrier, DM1, University of Zurich, Johns Hopkins School of Medicine, Columbia University Irving Medical Center, Tel Aviv University, Emery–Dreifuss muscular dystrophy, University of Iowa, Prognosis, Research, Mentorship, Charcot–Marie–Tooth disease, RNA, CMT, Duchenne, Facial muscles, Glycogen storage disease type II, Student, University of Rochester, Neuromuscular disease, DMD, Patient, Regents of the University of Michigan, Diagnosis, Growth, Regent, B cell, Health, MDA, FDA, Mobile app, ALS, Myotonic dystrophy, LGMD, Disease, Pharmaceutical industry, Medical device, Nursing, Exercise

New York, Sept. 13, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) announced today the awarding of 37 new grants with a total funding commitment of $8.4 million toward neuromuscular disease research.

Key Points: 
  • New York, Sept. 13, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA) announced today the awarding of 37 new grants with a total funding commitment of $8.4 million toward neuromuscular disease research.
  • The newly funded projects aim to advance research discoveries and new therapy development in multiple areas including amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease (CMT), Duchenne muscular dystrophy (DMD), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), spinal muscular atrophy (SMA), myotonic dystrophy (DM), and many more.
  • “The Muscular Dystrophy Association has consistently been a leader in advancing treatments for people living with muscular dystrophy, ALS and related neuromuscular diseases,” said Donald S. Wood, Ph.D., President and CEO, Muscular Dystrophy Association.
  • Internship recipients and mentors included:
    These are just a few of the many grants the Muscular Dystrophy Association has pledged to support.

Muscular Dystrophy Association Kicks Off 30 Days of Strength Campaign for National Muscular Dystrophy Awareness Month in September

Retrieved on: 
Monday, August 28, 2023
Aviation Career Exploring, Marketing, TAW, Blog, Committee, Congress, Neuromuscular disease, MD, Air travel, Patient, ALS, LGMD, University, Duchenne muscular dystrophy, EDMD, DM, Atmosphere, McNamara Alumni Center, Muscular dystrophy, Mutation, Research, Mentorship, CMT, Organization, MDA, Social media, Learning, Capitol Hill, Disability, Medicine, Charcot–Marie–Tooth disease, Federal Aviation Act of 1958, Wheelchair, FAA, Love, Therapy, Workforce, SMA, Telehealth, Doctor of Philosophy, University of Minnesota, Public policy, Sarepta Therapeutics, DMD, Myotonic dystrophy, Pharmaceutical industry, Music, Nursing, Quest

Congress must reauthorize the Federal Aviation Act (FAA) by September 30, 2023, to avoid interruptions in air travel.

Key Points: 
  • Congress must reauthorize the Federal Aviation Act (FAA) by September 30, 2023, to avoid interruptions in air travel.
  • Earlier this year, MDA brought advocates to Capitol Hill to urge their lawmakers to include accessibility provisions in this year’s FAA reauthorization.
  • There will be a special night of fundraising by MDA Ambassador, Charlie, who lives with Duchenne muscular dystrophy, on World Duchenne Day, September 7.
  • Follow @MDAorg on social media throughout the month of September to amplify conversations including the following dates:

Registration Now Open for 2024 MDA Clinical & Scientific Conference, to Showcase Cutting Edge Research Advancements and Clinical Achievements in Neuromuscular Disease

Retrieved on: 
Wednesday, August 9, 2023
Muscular dystrophy, Abstract, Muscular Dystrophy Association, SMA, Conference, University, Pediatrics, Duchenne muscular dystrophy, Doctor of Philosophy, Public policy, Hilton Orlando Lake Buena Vista, Network, Myasthenia gravis, Research, Charcot–Marie–Tooth disease, CMT, Associate, Science, Organization, Neuromuscular disease, DMD, MG, Episcopal conference, Diagnosis, MDA, ALS, Treatment, Social media, LGMD, Nursing, Pharmaceutical industry

New York, Aug. 09, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA), convener of the largest worldwide gathering of the neuromuscular disease community, announced today that registration is now open for the 2024 MDA Clinical & Scientific Conference being held March 3-6, 2024, at the Hilton Orlando in Orlando, Florida.

Key Points: 
  • New York, Aug. 09, 2023 (GLOBE NEWSWIRE) -- The Muscular Dystrophy Association (MDA), convener of the largest worldwide gathering of the neuromuscular disease community, announced today that registration is now open for the 2024 MDA Clinical & Scientific Conference being held March 3-6, 2024, at the Hilton Orlando in Orlando, Florida.
  • The four-day international event will bring together renowned researchers, clinicians, academicians, advocates, and industry leaders to explore the latest advances in the field of neuromuscular disease.
  • We are encouraging more participation from allied health providers in addition to the MDA Care Center Network medical teams, and the research and advocacy communities,” said Donald S. Wood, Ph.D., President & CEO, MDA.
  • 2024 MDA Clinical & Scientific Conference Social Media Toolkit for registrants, panelists, supporters/sponsors, and advocacy organizations, is available here .