Patient Registration

Overview of the Jain Foundation's patient registry

The Jain Foundation patient registry is a secure registry that is free to anyone who wishes to register. However, the ultimate goal of the registry is to identify genetically confirmed dysferlinopathy patients. For those registrants with an incomplete diagnosis, staff at the Jain Foundation will guide them along the process to a definitive diagnosis, including funding dysferlin mutational analysis if this step is warranted.

Because dysferlinopathy is a rare disease, the specific symptoms and disease progression experienced by each patient are important information that will improve our understanding of the disease. Through your participation in this registry, we can determine the true incidence of this disease and highlight its importance to scientists, clinicians and pharmaceutical companies worldwide. We are funding projects that will help with diagnosis efforts around the world (please click here for more information).

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 $2000 value) for US patients in cases where this diagnostic step is warranted (for example: confirmed absence/reduction of the dysferlin protein)
  • 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
The Jain Foundation’s LGMD2B/Miyoshi Patient Registry began in December of 2006 and by the end of December 2010, the registry had 684 registrations from across the globe (see country distribution below). At registration, most of our registrants did not have a clear diagnosis, but over time, we guided them through a diagnostic path to reach a firm diagnosis at the genetic level. As shown in the pie diagram below, at the end of 2010, 124 individuals have been able to confirm their diagnosis of a dysferlinopathy with either 1 or 2 identified mutations in the dysferlin gene and another 72 were determined to have other types of muscular dystrophy.