Ongoing Clinical Trials for Muscular Dystrophy
This article provides an overview of 6 ongoing clinical trials exploring new treatments for various forms of muscular dystrophy. These studies are investigating gene therapies and medications aimed at improving muscle function and quality of life for patients with conditions including limb-girdle muscular dystrophy, Becker muscular dystrophy, and LMNA-related congenital muscular dystrophy. Trials are currently recruiting in several European countries including Belgium, Denmark, France, Germany, Italy, the Netherlands, Norway, and Spain.
Clinical trial locations
- Belgium
- Denmark
- Gene Therapy Study for Patients with Limb-Girdle Muscular Dystrophy Using GNT0006
- Study on the Effects of EDG-5506 in Adults with Becker Muscular Dystrophy, McArdle Disease, or Limb-Girdle Muscular Dystrophy
- Study on the Effects of Ribitol (BBP-418) in Patients with Limb Girdle Muscular Dystrophy Type 2I
- France
- Germany
- Italy
- Study on the Effectiveness of Deflazacort in Treating LMNA-related Congenital Muscular Dystrophy in Adults and Children
- Study on the Effects of Ribitol (BBP-418) in Patients with Limb Girdle Muscular Dystrophy Type 2I
- Study on the Safety and Effectiveness of SRP-9003 and Prednisone for Patients with Limb-Girdle Muscular Dystrophy Type 2E/R4
- Study on the Safety of ATA-200 Gene Therapy for Patients with Limb-Girdle Muscular Dystrophy Type R5
- Netherlands
- Norway
- Spain
Study on the Safety and Effectiveness of SRP-9003 and Prednisone for Patients with Limb-Girdle Muscular Dystrophy Type 2E/R4
This trial is testing SRP-9003, a gene therapy designed to help patients with limb-girdle muscular dystrophy type 2E/R4, also known as β-sarcoglycanopathy. This condition affects muscles around the hips and shoulders, causing progressive weakness and difficulty with movement.
Main inclusion criteria: The study accepts patients in two groups. For those who can walk (Cohort 1), participants must be at least 4 years old, able to walk without help, complete a 10-meter walk in less than 30 seconds, and have good muscle function scores. For those who cannot walk (Cohort 2), participants must be at least 4 years old, take 30 seconds or more to walk 10 meters or be unable to do it, and meet certain arm function requirements. All participants must have specific gene mutations confirmed by laboratory testing, low levels of certain antibodies in their blood, and be on a stable dose of glucocorticoids for at least 12 weeks before starting.
Main exclusion criteria: Patients with a different type of muscular dystrophy, those who cannot provide informed consent or have no legal guardian, those with medical conditions that make participation unsafe, patients currently in another trial, those with allergies to the study medication, pregnant or breastfeeding women, and people with a history of drug or alcohol abuse are excluded.
Focus and goal: The study evaluates the safety and effectiveness of SRP-9003, which is given through an intravenous infusion. The gene therapy aims to help the body produce beta-sarcoglycan, a protein that is missing or not working properly in people with this condition. Participants will have regular assessments of muscle function, blood tests, and imaging studies over several years, with the study expected to conclude in February 2030.
Investigational drug: SRP-9003 is a gene therapy that delivers a healthy copy of the gene responsible for producing beta-sarcoglycan. By restoring production of this protein in muscle cells, it may help improve muscle strength and slow disease progression.
Study on the Effectiveness of Deflazacort in Treating LMNA-related Congenital Muscular Dystrophy in Adults and Children
This trial is studying Deflazacort, a type of glucocorticoid medication used to reduce inflammation and suppress the immune system. The study focuses on laminopathies, specifically LMNA-related congenital muscular dystrophy (L-CMD).
Main inclusion criteria: Patients must be between 3 and 40 years old, of Caucasian origin, and have a confirmed clinical and genetic diagnosis of L-CMD or EDMD2 with symptoms starting before age 5. They must not have been previously treated with corticosteroids and need to provide consistent measurements of forced vital capacity with less than 15% variability. Written informed consent is required from adult patients or parents/legal guardians for minors.
Main exclusion criteria: Patients with other serious health conditions that might interfere with the study, those in another clinical trial, those who have had recent surgery or planning surgery, patients unable to follow study procedures, those with allergies to the medication, pregnant or breastfeeding women, people with drug or alcohol abuse history, those with mental health conditions affecting participation, patients with infections requiring antibiotics, and those who received a live vaccine within 4 weeks are excluded.
Focus and goal: The study evaluates how effective Deflazacort is in improving health outcomes for patients with L-CMD. Participants receive the medication as oral drops at a dosage of 0.9 mg per kilogram of body weight daily. The trial tracks changes in clinical outcomes and biomarkers at regular intervals through March 2025 to understand the treatment’s impact.
Investigational drug: Deflazacort is a glucocorticoid that works by reducing inflammation and modulating the immune response. It is administered orally in drop form and is being evaluated for its potential to improve clinical outcomes in both adult and pediatric patients with L-CMD.
Study on the Safety of ATA-200 Gene Therapy for Patients with Limb-Girdle Muscular Dystrophy Type R5
This trial is testing ATA-200, a gene therapy for limb-girdle muscular dystrophy type R5 (LGMDR5), which affects muscles around the hips and shoulders. The therapy uses a specially designed virus to deliver a healthy copy of the gamma-sarcoglycan gene.
Main inclusion criteria: Children who can walk, both boys and girls, aged at least 6 but less than 12 years old at screening are eligible. They must have a confirmed diagnosis of LGMDR5 before turning 10, based on symptoms and genetic testing showing changes in the SGCG gene. Participants must be able to walk 10 meters in 15 seconds or less without aids and stand up from a chair with or without using their arms. They must have stable health, be able to follow study requirements, and not have neutralizing antibodies against AAV8 in their blood.
Main exclusion criteria: Patients with a different type of muscular dystrophy, those unable to walk on their own, those with other serious health conditions interfering with the study, patients with recent or planned surgery, those taking certain medications affecting study results, patients in another recent trial, those with allergies to study medication, pregnant or breastfeeding individuals, and those unable to follow study procedures are excluded.
Focus and goal: The study evaluates the safety of two different doses of ATA-200 given through intravenous infusion. Participants undergo various assessments including physical exams, muscle strength tests, and MRI imaging to check muscle condition. The goal is to find the best dose for future research and ensure the treatment is safe. The study is expected to conclude in January 2030.
Investigational drug: ATA-200 is an adeno-associated viral vector carrying the human gamma-sarcoglycan gene. This gene therapy aims to help patients with gamma-sarcoglycanopathy by delivering the gene important for muscle function.
Gene Therapy Study for Patients with Limb-Girdle Muscular Dystrophy Using GNT0006
This trial is studying GNT0006, a gene therapy for FKRP-related limb-girdle muscular dystrophy (LGMDR9). The therapy uses a special virus to deliver the FKRP gene to help improve muscle function.
Main inclusion criteria: Participants must be at least 16 years old with a confirmed diagnosis of LGMDR9 based on symptoms and genetic testing showing changes in the FKRP gene. They must be able to walk 10 meters in 30 seconds with help like a cane or crutches, stand up from a regular chair with or without arm support, and have some diaphragm weakness with forced vital capacity between 40% and 80% of expected. Participants must agree to use effective birth control, sign informed consent, have stable medical condition, and be able to follow study requirements.
Main exclusion criteria: Patients unable to walk on their own, those with other serious health conditions interfering with the study, pregnant or breastfeeding women, those in another recent trial, patients with allergies to study medication, those with drug or alcohol abuse history, patients unable to follow study procedures, those who received certain medications affecting results, patients with certain heart problems, and those with infections requiring treatment are excluded.
Focus and goal: The study has two stages. Stage 1 tests the safety of two different doses of GNT0006 given through intravenous infusion. Stage 2 evaluates the effectiveness of the selected dose over one year, focusing primarily on changes in lung function compared to a placebo group. Additional assessments include muscle function, MRI parameters, respiratory tests, and quality of life evaluations. The study is expected to conclude in February 2029.
Investigational drug: GNT0006 is an adeno-associated viral vector carrying the FKRP gene. This gene therapy aims to correct the underlying genetic defect in patients with FKRP-related limb-girdle muscular dystrophy.
Study on the Effects of EDG-5506 in Adults with Becker Muscular Dystrophy, McArdle Disease, or Limb-Girdle Muscular Dystrophy
This trial is testing EDG-5506 (also called Sevasemten) on three muscle-related diseases: Becker Muscular Dystrophy, McArdle Disease, and Limb-Girdle Muscular Dystrophy. The medication is taken as a tablet.
Main inclusion criteria: Participants with Becker Muscular Dystrophy or Limb-Girdle Muscular Dystrophy Type 2I must be between 18 and 65 years old, while those with McArdle Disease can be up to 75 years old. All participants must have a confirmed diagnosis, be able to follow a stationary bike exercise routine, not have any other medical condition making it difficult to understand the study or attend visits, have no active muscle injury at study start, be willing to follow all requirements, speak and read fluently in Danish or English, agree to use birth control methods, and be able to give written consent.
Main exclusion criteria: Patients with other serious health conditions interfering with the study, pregnant or breastfeeding women, those in another trial within 30 days, patients with allergic reactions to study medication, those unable to follow procedures, people with drug or alcohol abuse in the past year, patients with severe heart problems, uncontrolled high blood pressure, severe liver or kidney disease, and those with active infections requiring treatment are excluded.
Focus and goal: The study evaluates how EDG-5506 affects markers in the body that indicate muscle damage. Participants are randomly assigned to receive either the medication or a placebo in a double-blind design. Throughout the study, participants undergo regular assessments including blood work, physical exams, and an exercise protocol to monitor health status and treatment effects. The study is estimated to end in August 2025.
Investigational drug: EDG-5506 (Sevasemten) is an oral tablet being studied to see if it can help reduce muscle damage in these three conditions. It targets specific pathways in muscle cells to reduce damage and improve muscle function.
Study on the Effects of Ribitol (BBP-418) in Patients with Limb Girdle Muscular Dystrophy Type 2I
This trial is studying BBP-418 (ribitol), a treatment for Limb Girdle Muscular Dystrophy 2I/R9 (LGMD2I/R9). The medication is taken as granules dissolved in liquid and consumed orally.
Main inclusion criteria: Participants must be male or female between 18 and 60 years old, weigh more than 30 kilograms (about 66 pounds), and have a genetically confirmed diagnosis of LGMD2I/R9 with signs of muscle weakness around the hips and shoulders or in the arms and legs. They must understand study procedures and agree to participate by signing informed consent. If able to have children, participants must agree to use very effective birth control from enrollment until 12 weeks after the last dose. They must be willing and able to complete all study procedures, including biopsies.
Main exclusion criteria: Patients with other serious health conditions interfering with the study, pregnant or breastfeeding women, those in another trial within 30 days, patients with known allergies to study medication or ingredients, those unable to follow procedures or attend visits, people with drug or alcohol abuse history affecting results, patients who received certain interfering medications, and those with certain heart conditions posing a risk are excluded.
Focus and goal: The study evaluates the effectiveness and safety of BBP-418 over 36 months. Participants are randomly assigned to receive either the treatment or placebo in a double-blind design. Regular assessments monitor muscle strength and function, with the main focus on changes in the North Star Ambulatory Assessment and frequency of adverse events. Additional evaluations include walking speed, lung function, and laboratory tests measuring specific proteins and biomarkers. The study is estimated to conclude in September 2027.
Investigational drug: BBP-418 (ribitol) is believed to work by enhancing the glycosylation of alpha-dystroglycan, a protein important for muscle integrity. It is being studied as a potential therapeutic agent for improving muscle function in patients with LGMD2I/R9.
Summary
These six ongoing clinical trials represent significant efforts to develop new treatments for various forms of muscular dystrophy. Most trials focus on different subtypes of limb-girdle muscular dystrophy, with four of the six studies investigating gene therapies. Italy stands out as the most active location, hosting four of the six trials, followed by Denmark and Germany with three each.
The trials demonstrate diverse therapeutic approaches, ranging from traditional medications like Deflazacort and ribitol to cutting-edge gene therapies such as SRP-9003, ATA-200, and GNT0006. Gene therapy studies generally focus on delivering healthy copies of genes to restore missing or faulty proteins essential for muscle function. Most studies target pediatric or young adult populations, reflecting the early onset of many muscular dystrophy forms.
The study durations vary considerably, with some extending through 2030, indicating long-term commitment to understanding treatment effects. Safety monitoring remains a primary concern across all trials, with regular assessments of muscle function, respiratory capacity, and quality of life measures serving as key evaluation points.
