FDA Ruling on Stem Cells

The US District Court has ruled in favor of the FDA who claimed that the use of a patient’s own stem cells to regulate therapy should be subject to the same regulations as drug therapies.

 

A company called Regenerative Sciences takes stem cells from bone marrow, processes them, and injects them back into the patient in order to treat joint pain. However, the FDA called this procedure “unapproved biological drug product manufacturing” in 2010 and ordered the prevention of the treatment.

Patients who are already genetically diagnosed with other non-dysferlin forms of LGMD, HIBM, Pompe, Bethlem, EDMD, FSHD, DMD/Becker

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:

Patients who are already genetically diagnosed with mutations in the dysferlin gene (i.e. LGMD2B/Miyoshi/Dysferlinopathy)

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.

 

Undiagnosed Patients in Other Countries

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: 

Exon skipping as a therapeutic strategy for dysferlinopathy

Objective: 
The present project is aiming toward the clear objective of obtaining important preclinical information towards developing exon skipping as a therapeutic strategy in targeted cases of dysferlinopathies by:

(1) Characterizing a KI mouse model carrying an exon 32 nonsense mutation.

(2) Evaluating the functionality of exon 32 skipping in a living animal.

(3) Extending the exon skipping strategy to the entire C2D domain (comprising exon 32, and in addition exons 31, 33 and 34) using a multiple exon skipping approach.

Past

Preventing Dysferlinopathy Through Anti-Cholesterol Approaches

Objective: 
To evaluate how lipids associated with 'Western' diets can participate in pathogenesis of dysferlinopathy.

Our laboratory is interested in how lipids associated to ‘Western’ diets, such as triglycerides and cholesterol, can participate to the pathogenesis of dysferlinopathy.  Using various genetic models of altered lipid metabolism in combination with dysferlinopathic mice, we are currently studying how muscle fibers respond to changes in circulating lipid and lipoproteins levels, and whether correcting certain plasma lipid parameters would attenuate the rate of decline in muscle function associated with dysferlinopathies.

Past

Creating Libraries of Nanobodies That Recognize Selected Regions of Dysferlin

Objective: 
To generate libraries of nanobodies that recognize selected regions of dysferlin

Brian Chait, D.Phil., is the Camille and Henry Dreyfus Professor at the Rockefeller University in New York and head of the Laboratory for Mass Spectrometry and Gaseous Ion Chemistry. He specializes in the development and use of mass spectrometry as a tool for investigating a variety of biological and biochemical phenomena.

Research

Bone marrow transplantation as a therapeutic approach for dysferlinopathies

Objective: 
To assess bone marrow transplantation as a therapeutic approach for dysferlinopathies

The aim of the study is to assess the therapeutic effect of bone marrow transplantation in A/J mice. So far, there is no effective treatment for dysferlinopathies. Preliminary studies from our group have shown some functional improvement in A/J mice treated with bone marrow transplantation. We have observed some functional improvements 22 weeks after bone marrow transplantation (BMT). We are interested in studying if this beneficial effect is maintained over time.

Past

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