Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
Milan, Italy
Not recruitingRare disease
Study on the Safety and Effectiveness of SRP-9003 and Prednisone for Patients with Limb-Girdle Muscular Dystrophy Type 2E/R4
Fast replyRegistered drug
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What is this trial about?
A plain-language summary of the goals, design and what participants do
This clinical trial is focused on studying a rare genetic condition known as Limb-girdle muscular dystrophy type 2E/R4, also referred to as β-sarcoglycanopathy. This condition affects the muscles around the hips and shoulders, leading to muscle weakness and difficulty in movement. The study is testing a new treatment called SRP-9003, which is a type of gene therapy. Gene therapy involves introducing new genetic material into a person's cells to treat or prevent disease. In this case, SRP-9003 is designed to help the body produce a protein that is missing or not working properly in people with this type of muscular dystrophy.
The purpose of the study is to evaluate the safety and effectiveness of SRP-9003 in people with limb-girdle muscular dystrophy type 2E/R4. Participants in the study will receive SRP-9003 through an intravenous infusion, which means the treatment is given directly into a vein. The study will monitor how well the treatment works by looking at changes in muscle function and the presence of the protein that the treatment is designed to help produce. Some participants may also receive a placebo, which is a substance with no active medication, to compare the effects of the treatment.
The study will take place over several years, with regular check-ups to assess the participants' health and the effects of the treatment. The goal is to see if SRP-9003 can improve muscle strength and function in people with this type of muscular dystrophy. Participants will be closely monitored for any side effects or changes in their condition throughout the study period.
The research process
The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.
Who can join the trial?
9 criteria
- For **Cohort 1** (those who can walk): Must be at least 4 years old, able to walk without help, complete a 10-meter walk in less than 30 seconds, and have a NSAD total score of 25 or more.
- For **Cohort 2** (those who cannot walk): Must be at least 4 years old, take 30 seconds or more to complete a 10-meter walk or be unable to do it, and have a PUL 2.0 entry scale score of 3 or more.
- Must have **AAVrh74 antibody titers** less than 1:400, meaning the level of these antibodies in the blood is not high.
- Must be willing to give **informed consent** or, if applicable, assent, with a parent or guardian also willing to give consent for participation.
- Must be willing and able to follow the study's required assessments.
- Must have specific **gene mutations** related to the condition, either one homozygous or two heterozygous, confirmed by a certified laboratory before starting the study.
- Must be able to cooperate with muscle testing.
- For those who can have children, must agree to use a highly effective method of **contraception** until 24 months into the study. This applies to women who have started menstruating and are not yet post-menopausal unless they have had permanent sterilization.
- Must have been on a stable dose of oral **glucocorticoids** (a type of medication) for at least 12 weeks before the study starts, and the dose should stay the same during the first year of the study, except for changes due to weight.
Who cannot join the trial?
9 criteria
- Patients who have a different type of muscular dystrophy other than Limb-girdle muscular dystrophy, type 2E/R4 (LGMD2E/R4) or β-sarcoglycanopathy.
- Patients who are not within the specified age range for the study.
- Patients who are not able to provide informed consent or do not have a legal guardian to provide consent on their behalf.
- Patients who have a medical condition that the study doctors believe would make it unsafe for them to participate.
- Patients who are currently participating in another clinical trial or have recently participated in one.
- Patients who have a history of allergic reactions to the study medication or its ingredients.
- Patients who are pregnant or breastfeeding.
- Patients who have a history of drug or alcohol abuse that could interfere with the study.
- Patients who have a serious infection or illness that could affect the study results.
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Verified sites
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Verified Responsive Katholieke Universiteit te Leuven
Leuven, BelgiumResponsive Universitair Ziekenhuis Gent
Gent, Belgium
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Investigated drugs
SRP-9003 is a gene therapy being studied for its potential to treat Limb Girdle Muscular Dystrophy 2E/R4. This therapy aims to deliver a healthy copy of the gene responsible for producing a protein called beta-sarcoglycan. By doing so, it hopes to restore the production of this protein in muscle cells, which may help improve muscle function and slow the progression of the disease.
What is already known about the treatment
SRP-9003 – This medication is administered through systemic gene delivery, which involves introducing genetic material into the body to treat disease. Currently, SRP-9003 is in a Phase 3 clinical trial, focusing on its safety and effectiveness for treating Limb-girdle muscular dystrophy, type 2E/R4, also known as β-sarcoglycanopathy. The main therapeutic indication is to improve muscle function in patients with this specific type of muscular dystrophy. At the molecular level, SRP-9003 works by increasing the expression of β-sarcoglycan, a protein crucial for muscle integrity, as measured by the presence of β-sarcoglycan positive fibers. It falls under the pharmacological classification of gene therapy, aiming to correct the underlying genetic defect causing the disease.
Investigated diseases
Limb-girdle muscular dystrophy, type 2E/R4 (LGMD2E/R4) – This is a genetic disorder characterized by progressive muscle weakness, primarily affecting the muscles around the hips and shoulders. It is caused by mutations in the gene responsible for producing beta-sarcoglycan, a protein essential for muscle function. Over time, individuals with this condition may experience increasing difficulty with activities such as walking, climbing stairs, and lifting objects. The progression of muscle weakness can vary significantly among affected individuals. Muscle wasting and weakness typically begin in childhood or adolescence. As the disease advances, it may also affect other muscle groups, leading to further mobility challenges.
Trial detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2022-503112-17-00Protocol codeSRP-9003-301Estimated enrolment15 patientsSponsorSarepta Therapeutics Inc.
sourced from the EU Clinical Trials Register and site verification
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