The Jain Foundation patient registry is secure and free. The goal of the registry is to identify genetically confirmed dysferlinopathy (LGMD2B and Miyoshi) patients. We also fund dysferlin protein and mutation analysis when warranted to facilitate complete diagnosis. At the time of registration, most patients do not have a clear diagnosis. The foundation guides them through a diagnostic path to reach a firm conclusion. The chart below summarizes the situation as it stands currently.
When you register, you will have access to the following services:
- General information about LGMD2B/Miyoshi (a.k.a. Dysferlinopathy)
- Advice about diagnostic options, including financial support for dysferlin gene mutation analysis (a $2300 value) for US patients in cases where this diagnostic step is warranted
- Help finding appropriate experts (both scientific and clinical) in your country or area
- Information about ongoing or upcoming clinical trials relevant to your disease
- A source of knowledge about treatment options that are under development
Because dysferlinopathy is a very rare disorder (estimated at 1-4 patients/million population), we are reaching patients globally to gather the numbers of patients necessary for future clinical trials. In order to identify patients worldwide, our online registry questionnaire is in different languages and we work with clinicians in many countries. The world map below shows the distribution of the Jain Foundation registrants by country as it stands currently.
If you cannot register online, please download the paper registration forms.