Clinical Trials, Studies And Surveys
Your experiences and perspectives can help researchers better understand dysferlinopathy and the knowledge gained can elevate the way the disease is managed and can impact the process by which potential treatments are studied.
By all of us working together and doing our part we can change the future of dysferlinopathy.
Your participation in the registry, surveys and clinical studies is powerful and influences the likelihood that treatments will reach the clinic.
There are many different ways to get involved so everyone can participate no matter their stage of disease or ability to travel. Please explore all the possibilities below to see if there is something you could participate in.
Interventional Clinical Trials
International Clinical Outcome Study for Dysferlinopathy (COS2)
Status: Active – recruitment closed
This study is being sponsored by the Jain Foundation. 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.
If you do not have a genetic diagnosis, the Jain Foundation can help. Please contact firstname.lastname@example.org and the Jain Foundation can provide guidance and support to help you obtain a diagnosis at the genetic level.
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.
Limb Girdle Video Assessment (LGVA) Study
Status: This study is active
The purpose of this study is to develop a new remote-based video assessment outcome measure for Limb-Girdle Muscular Dystrophy (LGMD) trials. The overall objectives for this study are: 1. Identify domains and tasks meaningful to participants with a Limb-Girdle Muscular Dystrophy (LGMD) for development of the LGVA, including considerations for subtype heterogeneity and functional subgroup branching; 2. Determine the feasibility and reliability of the LGVA with test-retest of the LGVA Video Capture Manual; 3. Assess and refine the LGVA Video Capture Manual to ensure standardization and incorporate feedback from participants; 4. Collect source material videos using the LGVA Video Capture Manual to support the development of scorecards for the LGVA.
This study includes participants with LGMD2A, 2B and 2I. For more information click here.
TREAT NMD LGMD Standards of Care Survey
Status: This survey is active
Finally, clinical efforts are being made to improve the standards of care for individuals with all forms of LGMD. It has taken years to build clinical interest to a level where official surveys for the LGMDs are being requested. In order to make sure the standards of care that are being developed for LGMD subtypes address the specific needs of the dysferlinopathy community we need individuals with dysferlinopathy to participate in this survey.
Spending a nominal amount of time doing this will yield significant return, paving the way for more effective clinical care offered to individuals with all types of LGMD.
The survey is available in multiple languages and more translations are in the works. Click here to find links to all the currently available translations.