ABOUT US: We are a group of families with people with beta-sarcoglycanopathy LGMD2E or LGMDR4 and other Limb-girdle muscular dystrophies, rare forms of muscular dystrophy. Our group started with some families in Lombardy. During the years it was so enlarged that now other people living in the whole Italy and abroad have joined us.
THE GFB Odv was created to finance research projects aimed at treating the disease.
It wants to be a way of keeping us/you better informed on info/news not easy to be found as well as the most updated specific research activities for this particular disease. Our mission is to represent people with Beta-sarcoglycanopathy, towards the institutions, research organizations, other associations, to patients.
This role is kept only by us till now, because no other groups exist with our same purpose - neither in Italy nor abroad.
This website and its self-mutual-help group GFB ODV were created from the desire to get in touch with other families affected by this disease (on the Italian territory they are about fifty), so to share the various aspects of living every day with this disease, as well as clinical, legal, logistical, organizational aspects related to scientific research and the use of various aids.
Our intention is to realize a first collection of data on these patients, in view of a future patient register and specific clinical trials.
In the years we have experienced the disease of our children, realizing there were no precise scientific studies and therapeutic approaches targeted for this disease (until 2012). We were completely left alone. The disease, as defined by the European Union and the European Association for rare diseases (E-RARE), was seen as “neglected” for the almost total absence of both research and diagnostics on European territory.
There were a model of beta-sarcoglycan mouse produced in the United States and only one publication of the research on murine model. Our group GFB (Beta-sarcoglycanopathies Family Group) has been running since 2011 to promote the scientific research on this specific pathology.
Since the month of August 2012 the families of GFB have decided to start the first fundings to the project of gene therapy for 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.