The association GFB ODV was created to promote the scientific research on Beta-sarcoglycanopathies and other forms of Limb-girdle muscular dystrophies. There is no effective cure for people with Limb Girdle Muscular Dystrophy (LGMD), a group of more than 30 rare genetic diseases in which the pelvic girdle or shoulder musculature is predominantly or primitively involved.
THE GENE THERAPY PROJECT
Since the month of August 2012 the families of GFB have decided to start the first fundings to the gene therapy project about LGMD2E or LGMDR4 of Prof. J. Mendell in Columbus Ohio. Six payments for a total of $ 1,500,000 have been paid up today. In these six years the GFB has received seven reports with all the results of the phases of the project and has taken part in eight conference calls with American doctors and the medical and scientific committee of the association.
OTHER DISEASE AND GENE THERAPY
In fact, in recent years gene therapy has been tested on LGMD2E or LGMDR4, SMA1, LGMD2D or LGMDR3 and LGMD2B and has obtained excellent results on treated patients. For SMA1, the procedure for obtaining recognition of the specific drug is now underway. The LGMD2E or LGMDR4 gene therapy project represents the most advanced therapy and closest to the treatment of patients for the sector of girdle dystrophies.
THE COMPANY MYONEXUS
Gene therapy can now be developed on 5 forms of LGMD (LGMD2B-2C/R5-2D/R3-2E/R4-2L). To achieve this goal, the Company Myonexus Therapeutics was formed in 2019, for the development over the next few years of this therapy on the 5 forms of LGMD to make it available to all patients in Europe and the United States.
In 2019 GFB participated in the Myonexus-Sarepta agreement for the development of gene therapy on the 5 forms of LGMD. The first clinical trial for LGMD2E or LGMDR4 is currently underway. Thereafter, the therapy can be developed on other similar, monogenic genetic diseases, which have the genetic alteration on a very small gene. The GFB Odv is working with the doctors of the Milan Polyclinic to make the therapy available also in Italy in the coming years.
AIM OF OUR WEBSITE
The aim of this site and of the linked self-mutual aid group is the correct information about the limb-girdle muscular dystrophy type beta-sarcoglycan gene deficit, LGMD2E or LGMDR4, the new scientific detections, the treatment, events and related enterprises. It wish to be useful for the patients, their relatives, doctors, nurses, journalists, pharmaceutical representative and everybody involved.
WHY WE COLLECT PATIENT INFORMATION
In this site we collect information concerning people affected by Sarcoglycanopathy, in compliance with the Privacy Law, for processing statistic information with a view to the developing of a near patients’ register and of scientific researches focused on this pathology. We also know this pathology is spread into the Italian north-east area (about 50 cases) and in Germany (about 120 cases). In the other countries it is more contained.(last upadates August 31th 2011) In the world they estimate about 350 cases overall. In conjunction with our mother tongue site, we have prepared at the same time another site for foreign readers in English.
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