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WHAT’S NEW: Since 2012, the families of the GFB ONLUS have been funding without any other help the preclinical gene therapy on Limb Girdle Muscular Dystrophy type 2E, at the National Children's Hospital in Columbus OHIO USA, carried out by the team of Prof. Jerry Mendell.


FROM WHEN AND HOW: In 2012  Prof. Cerletti Massimilano, from Chiavenna, was sent to the American laboratories by the GFB ONLUS. Prof. Cerletti has been studying for 15 years the muscular dystrophies at Harvard in Boston and is currently a university professor in London where also director of a centre of stem cells. Following the positive feedbacks given by Prof. Cerletti, the GFB families decided to start with the first fundings to the project of gene therapy for LGMD2EThree payments for a total of $ 900,000 have been paid up today.In these four years the GFB has received three reports with all the results of the phases of the project and has taken part in four conference calls with American doctors and the medical and scientific committee of the association.

In April 2013 the American doctors took part in the First National Convention of the GFB in Milan “What next?” and last July the GFB ONLUS received consent to treatment by the American FDA (the American agency of the drug), which authorizes the use of gene therapy on the first patients.

In these months the laboratories are completing the production of human vectors whose new report will be sent to the GFB so to pass then to the following phase.

Our Association is carrying on alone this fight against this particular pathology. Big associations of rare diseases, provincial and national did not join us, as already involved in other projects. Anyway we hope some other associations will join our projects as LGMD2E is one of the most suitable candidates for the application of this therapy. In fact the gene that causes this pathology is one of the smallest among all the today’s known genetic diseases.The same therapy may help many other similar genetic diseases as this same treatment can also be used on them.

In January the GFB ONLUS took part in a meeting at the University of Milan, where an Italian doctor, who worked last year in the America hospital, reported on the current studies on the gene therapy.  During the meeting it was told this is a very delicate path, there were some obstacles now overcome, but also that everything seems to be ready to be started on patients.

FUND FOR RESEARCH: In 2015 the GFB ONLUS had to change its accounting system so to be able to to finance, for the first time, the American projects directly from the association’s bank account. For this purpose a special FUND FOR RESEARCH was created on its bank account of Banca Prossima. All donations on the account will be used to finance theAmerican projects and the scientific researches on the LGMD2E.

HEADING FOR RESEARCH FUND: Gruppo Familiari  Beta-sarcoglicanopatie Onlus

IBAN:  IT33X0335901600100000076500 BIC /SWIFT   code   BCITITMX

The GFB ONLUS is the only association in the world existing for LGMD2E, thisproject for the gene therapy is the only ongoing project in this moment for this pathology and the only hope for these patients.

about gene therapy project





Our group focuses its attention on research in neuromuscular disease field.

Some improvements have been obtained, especially for Duchenne’s and Becker’s muscular distrophy, even though no curative therapy has been established till now.

Virus mediated gene therapy studies have been set up for alpha, gamma and delta sarcogicanopathies, whereas no information about gene therapy for beta sarcoglicanopathy are available till now.

There are currently some trials with viral vectors for gene therapy for alpha-sarcoglycanopathy LGMD2D in the United States, Dr. Jerry R. Mendell, at "The Research Institute at Nationwide Children's Hospital" Columbus Ohio.

Also the Genethon in Paris is carrying out a study of gene therapy for gamma-sarcoglycanopathy LGMD2C, supported dall'AFM French Association for Myopathies.

In Italy, Naples, Dr. Vincenzo Nigro is applying viral vectors for gene therapy with delta-sarcoglycanopathy on a mouse model and a hamster model.

This disease has another important characteristic: the complex of the sarcoglycan consists of four components, alpha, beta, gamma and delta, the absence of a sarcoglycan results in the loss of the other three. This link between the sarcoglycan is very interesting, but has never been thoroughly studied.

For beta-sarcoglycanopathy there is only one “murino” model, produced in the United States by dr. Kevin Campbell and distributed by "The Jackson Laboratory", in this model have been eliminated exons 3-4-5-6.

An important research, which used beta-sarcoglycan mice, was coordinated  in Italy by Dr. N. Maraldi M. University of Bologna and was funded by the Ministry of Education, University and Research in 2008. Title of research is “Molecular mechanisms in muscular dystrophy with cardiomyopathy and potential therapeuthical approaches “. The study was divided into 5 areas of research. The beta-sarcoglycanopathy were treated by the scientific M. Sampaolesi, University of Pavia and L. De Angelis at the University "La Sapienza" of Rome. Article published June 27, 2011 in the journal J. Cell Biol. vol. No 193 7 from 1197 to 1212.

From the data collected in the Leiden database LOVD, people suffering from beta-sarcoglycanopathy are estimated at 355 worldwide (as of August 30, 2011). Of these 130 have a mutation on the exon 1 and 133 on the 3 one. The mutations are less frequent on other exons. In Italy there are 45 cases reported in the north-east of the country, of which 23 have the exact same mutation on the exon 3. The data on the spatial distribution and type of mutation are shown in detail in the statistics.

Beta-sarcoglycanopathy was included in the list of “neglected” disease of European Union and of European association of rare disease (E-RARE), underlying a substantial absence of scientific research in this field. Our aim is to constitute a group able  to promote scientific research specific on LGMD2E, create collaborations with scientists and, eventually, support researchers interested to study this disease.


I have a dream!