The Dysferlin Registry is a free patient registry exclusively for individuals who have been genetically diagnosed with dysferlinopathy through the identification of mutations in the dysferlin gene.
The Registry serves as an international recruiting tool for dysferlinopathy and general LGMD studies and trials.
This free patient registry is exclusively for individuals who have been genetically diagnosed with dysferlinopathy (LGMD2B and Miyoshi Myopathy) through the identification of mutation(s) in the dysferlin gene.
As a person with a rare disease, it is critical to understand the important role you have in whether or not the community reaches its mission: to bring therapies to the clinics. There are a number of ways that your participation and activity contribute to curing the disease.
In addition, this registry serves as an international recruiting list for LGMD/Miyoshi/General LGMD studies and trials.
Because dysferlinopathy is a very rare disorder (estimated at 5-10 patients/million population), we are reaching patients globally to gather the numbers of patients necessary for future clinical trials.
Without a strong, active patient community, the researchers have even bigger challenges than just scientific discoveries to make: they won’t even have data to analyze. Your participation in the registry, patient forums, answering surveys and participating in studies will lead to treatments and will help others who suffer from the disease.
LGMD2B/Miyoshi Myopathy patients are not asked to financially support the scientific projects, but they are asked to be willing to share their experiences to build important milestones necessary for clinical trials to be successful: patient data will inform for outcome measures in a trial. The FDA can’t approve a trial or therapy for clinic use if we don’t prove that the therapy improves lives. Without outcome measures, we can’t prove that your life is better because of the therapies we hope to get into trials.
Because it is so rare, many patients with dysferlinopathy have never met anyone else with their disease. By joining the patient community, you will have the opportunity to talk directly with other patients around the globe, ask them questions and share your strategies for overcoming obstacles with each other. You can choose a pseudonym if you prefer to remain more anonymous, but your personal contact details like emails, addresses and phone numbers will always remain private.