Dysferlin Registry

  • Learn about joining the dysferlin registry, what the registry provides to the community and how the community is preparing for clinical trials.
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  • Researchers can’t develop treatments without patient data. You can contribute by being involved and active in the Dysferlin Registry.
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  • You can make a difference by joining the Dysferlin Registry, participating in data studies and being active through this media.
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  • Find out about joining the Dysferlin Registry, receive an update on therapeutics in the pipeline for LGMD2B, or learn about studies: patients@jain-foundation.org
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Thank you for your interest in registering with the Dysferlin Registry. The Dysferlin Registry 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, participation in forums and learning about studies and trials.

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.

In addition, the Dysferlin Registry has the potential to serve as an international recruiting tool for dysferlinopathy and general LGMD studies and trials.

Have a look at the Dysferlin Registry landing page to find out more about how it works and how to join.

 

Stronger together: featuring Brad Williams


Brad Williams is a member of the Jain Foundation team searching for a cure for dysferlinopathy (LGMD2B/Miyoshi Myopathy).  Brad was diagnosed with Miyoshi Myopathy in 1981 just as he was starting college. When asked what he would say to someone newly diagnosed with this disease, he replied:

Here are a few important points: 

  1. This disease doesn’t define you.
  2. You are still the same person you were.
  3. There will be challenges.
  4. You still have a future, and it’s worth planning for. 

You don’t need to miss out on life!

Brad Williams

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