Study on the Safety and Effectiveness of SRP-9003 and Prednisone for Patients with Limb-Girdle Muscular Dystrophy Type 2E/R4

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What is this study about?

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.

1 initial assessment

Upon joining the study, an initial assessment is conducted to confirm eligibility. This includes verifying age, ability to walk, and specific genetic markers related to limb-girdle muscular dystrophy type 2E/R4.

Blood tests are performed to ensure antibody levels are within acceptable limits.

2 baseline evaluation

A baseline evaluation is conducted to measure current physical abilities and muscle function. This includes timed function tests and muscle strength assessments.

The baseline evaluation helps to compare future changes in muscle function and health.

3 medication administration

The study involves the administration of SRP-9003 through an intravenous infusion. This is a gene delivery treatment aimed at improving muscle function.

In addition, prednisone is taken orally. The dosage and frequency are adjusted based on individual needs and weight, and it is expected to remain stable throughout the first year.

4 follow-up assessments

Regular follow-up assessments are conducted to monitor changes in muscle function and health. These assessments occur at specified intervals, including Day 60 post-dose and continue through Month 60.

The assessments include physical function tests, blood tests, and imaging studies to evaluate the effect of the treatment.

5 safety monitoring

Throughout the study, safety monitoring is conducted to identify any adverse effects or significant changes in health status.

This includes regular check-ups, laboratory tests, and monitoring of heart function through ECGs and ECHOs.

6 study completion

The study is expected to conclude by February 28, 2030. At the end of the study, a final assessment is conducted to evaluate the overall impact of the treatment on muscle function and health.

Who Can Join the Study?

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 Study?

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.

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name	City	Country	Status
Katholieke Universiteit te Leuven	Leuven	Belgium

Other Sites

Site Name	City	Country
Universitair Ziekenhuis Gent	Gent	Belgium
Hospital Sant Joan De Deu Barcelona	Esplugues De Llobregat	Spain
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	Milan	Italy
Justus-Liebig-Universitaet Giessen	Giessen	Germany
Uoxrjjnqridejebreqlmo Eadxw Apa	Essen	Germany

Trial status

Country	Status	Recruitment Start
Belgium	Not recruiting	31.05.2024
Germany	Not recruiting	31.05.2024
Italy	Not recruiting	31.05.2024
Spain	Not recruiting	31.05.2024

Trial locations

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.

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 ID:

2022-503112-17-00

Protocol code:

SRP-9003-301

Trial Phase:

Therapeutic confirmatory (Phase III)

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Study on the Safety and Effectiveness of SRP-9003 and Prednisone for Patients with Limb-Girdle Muscular Dystrophy Type 2E/R4

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?