HOW TO TAKE ACTION
Clinical Trials, Studies And Surveys
HOW TO TAKE ACTION
Clinical Trials, Studies And Surveys
Clinical Studies
Clinical Outcome Study (COS): This is a Jain Foundation and Newcastle University sponsored natural history study.
Active Study – Recruitment Closed
The goal of the study is to define the natural progression of dysferlinopathy (LGMD2B/Miyoshi) in a large group of genetically confirmed patients and study a selection of possible outcome measures for use in future treatment trials.
The results of this study will provide us with a better understanding of the clinical aspects of dysferlinopathy and identify the best outcome measures to test the efficacy of potential therapies in future clinical trials.
COS is a three phase study starting with COS1 from 2012-2018, COS2 from 2019-2024 and COS2 Extension which started in 2025 and will run through 2028.
Interventional Clinical Trials
Navigene Study: This is a Sarepta sponsored investigational proof of concept gene therapy drug study.
Active Study – Recruitment Closed
In 2023 Sarepta Therapeutics launched a “proof-of-concept” clinical study called Navigene. This study is testing SRP-6004 in people with limb-girdle muscular dystrophy (LGMD) type 2B/R2 (dysferlin related), also called LGMD2B. SRP-6004 is an investigational gene therapy drug. “Investigational” means this drug is being studied; it has not been approved for use other than in a study like this. A gene therapy drug is designed to replace a non-working gene with a functional one.
This is an Open-label, Systemic Gene Transfer Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-6004 Administered by Systemic Infusion in Ambulatory Subjects with Limb Girdle Muscular Dystrophy Type 2B/R2 (LGMD2B/R2, Myipshi Myopathy 1, Dysferlinopathy).
To learn more about the study go to Clinical Trials.gov: https://clinicaltrials.gov/study/NCT05906251?cond=LGMD2B&checkSpell=false&rank=3
Clinical Surveys
Working with the MRI experts at CRL-Finland, the Jain foundation has developed a preclinical testing platform that can track the muscle deterioration and fat infiltration of the hip muscles in dysferlin deficient mice over time. The system is consistent, provides a good therapeutic window, and assesses a major reason for muscle weakness in patients: loss of muscle due to fiber death and fatty replacement. The platform is available to academic and industry partners interested in proof of concept studies to demonstrate the potential of possible therapies for dysferlinopathy. Further details about the platform and what can be measured are available here. Please contact the JF if you think this preclinical testing platform could help your research. Some published examples of the use of the platform include:
Effect of Ibuprofen on Skeletal Muscle of Dysferlin-Null Mice
WHY IT IS IMPORTANT TO PARTICIPATE
Without patient studies, we won’t know how to show that treatments are effective (if they are). Slow progressing diseases are difficult to measure in short periods of time (as in trials). In order to recruit for these studies, researchers need to have a pool of people who are genetically confirmed. In a rare disease like dysferlinopathy, this can be challenging. That is one of the reasons the Jain Foundation hosts the Dysferlin Registry. With more patients in the registry, there are more to recruit for studies that could help with “outcome measures” and trial preparations. In addition, biotech companies want to know if there is an identified, cohesive patient community interested in the treatments they are considering developing. The Jain Foundation curates a global registry of individuals who are genetically confirmed with LGMD2B/R2/Miyoshi Myopathy/ dysferlinopathy which will help our community mobilize fast for clinical trials.