Patient Registration

Thank you for your interest in registering with the Jain Foundation. The Jain Foundation curates an international registry for people with dysferlinopathy. The registry is the main point of contact for patients when requesting information, education about the disease, to participate in forums, to learn about studies and trials.

Being listed in the registry serves multiple purposes, including being a trial ready community. The registry is poised to help treatments for  dysferlinopathy  reach the clinic.

If you believe you have dysferlinopathy/LGMD2B/Miyoshi Myopathy, please reach us to discuss placement in the registry. 

If you live within the US and have believe you have LGMD2B/Miyoshi Myopathy, please send a message to us and we will update you on programs in support of genetic diagnosis.

 

If you live in India, please contact in individuals listed here for assistance.

 

We are in communication with patients from around the world who believe they have LGMD2B/Miyoshi Myopathy. Please reach us to be placed on the international lists for diagnsotic guidance. As diagnostic support becomes more readily available, and if new programs begin in support of international genetic diagnostics, we will then be able to reach you about it. If you are interested in being listed, please send a message to: 

The international patient registry is curated for individuals who have been genetically diagnosed with dysferlinopathy (LGMD2B and Miyoshi Myopathy) through the identification of mutation(s) in the dysfelrin gene. If you have already been genetically diagnosed with mutation(s) in the dysferlin gene, please email us at patients@jain-foundation.org and we will give an overview of the community and discuss your placement in the registry.

 

When you are registered with the Jain Foundation, you will have access to the following services:

 

 

Because dysferlinopathy is a very rare disorder (estimated at 5-8 patients/million population), we are reaching patients globally to gather the numbers of patients necessary for future clinical trials. The world map below shows the distribution of the Jain Foundation registrants by country as it stands currently.

 

 

If you have a genetic diagnosis for one of the following muscular dystrophies, we would encourage you to join the appropriate disease specific registry. 

 

When you register with a disease specific registry, you may have access to the following services, depending on the registry:

  • General information about your disease
  • 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

 

LGMD1B – caused by mutations in LMNA gene - https://www.cmdir.org/

 

LGMD2A – caused by mutations in the calpain 3 gene - http://www.curecalpain3.org/for-patients/

 

LGMD2C – caused by mutations in the gamma sarcoglycan gene - http://www.kurtpeterfoundation.org/patient_registry

 

LGMD2D – caused by mutations in the alpha sarcoglycan gene - https://lgmd2d.org/patient-resources/register/

 

LGMD2G – caused by mutations in TCAP gene - https://www.cmdir.org/

 

LGMD2I – caused by mutations in the FKRP gene - https://www.fkrp-registry.org/

 

LGMD2K – caused by mutations in POMT1 gene - https://www.cmdir.org/

 

LGMD2M – caused by mutations in FKTN gene – https://www.cmdir.org/

 

LGMD2N – caused by mutations in POMT2 gene – https://www.cmdir.org/

 

LGMD2O – caused by mutations in POMGnT1 gene – https://www.cmdir.org/

 

Bethlem – caused by mutations in either  COL6A1, COL6A2, or COL6A3 genes - https://www.cmdir.org/

 

EDMD – caused by mutations in either EMD, FHL1, SYNE1, SYNE2 or LMNA genes – https://www.cmdir.org/

 

ISPD – caused by mutations in ISPD gene - https://www.cmdir.org/

 

Duchenne or Becker Muscular dystrophy – caused by mutations in the DMD gene - http://www.treat-nmd.eu/resources/patient-registries/list/DMD-BMD/

 

FSHD –caused by mutations in SMCHDI gene -   http://www.treat-nmd.eu/resources/patient-registries/list/fshd/

 

Hereditary Inclusion Body myositis (HIBM) – caused by mutations in GNE gene - http://www.treat-nmd.eu/resources/patient-registries/list/gne-hibm/

 

Pompe – caused by mutations in GAA gene - https://www.registrynxt.com/Pompe/Pages/Home.aspx