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OBJECTIVE: The association GFB ONLUS was created to promote the scientific research on beta-sarcoglycanopathies and other forms of Limb-girdle muscular dystrophies.  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 Prof. J. Mendell in Columbus Ohio. Five payments for a total of $ 1,300,000 have been paid up today. In these four years the GFB has received five reports with all the results of the phases of the project and has taken part in seven conference calls with American doctors and the medical and scientific committee of the association.

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, 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.

In this site we collect information concerning people affected by beta-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.

Speaking about these subjects, we are available for planning meetings, workshop and seminar nearby your locations.

EXHORTATION: everybody has suitable news to add to ours, should deliver them as explained into the contact area.

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. In the world they estimate about 350 cases overall. In conjunction with our mother tongue site, we have prepared at the same time two sites for foreign readers. One speaks English. The second speaks German. We wish to establish a kind of twinning with German resident families and would like to take contact and cooperate with the German MD-NET, an organization dealing with muscular dystrophies.

In order to support the targets of our beta-sarcoglycanopathy families group it is crucial to give the most diffusion possible to the Press Release published into the join-us area, through your email contacts, social network and messenger links.

 

 

OUR PROGRAM:

SHORT TERM

  1. Create a Lgmd patient registry.
  2. Organisation of conferences on beta-sarcoglycanopathy and other Limb-girdle muscular dystrophies.
  3. Participation in international scientific conferences, exhibition of posters related to GFB ONNLUS.
  4. Registration of patients LGMD2E to GFB ONLUS.
  5. Registration of patients  LGMD2C-D-F to GFB ONLUS.
  6. Sending newsletters in Italian, English and German.
  7. Publication of articles relating  to the GFB on journals of patient associations or institutions interested in our topic,  even abroad.
  8. Organization of the annual meeting of the families of GFB ONLUS.
  9. Organization of transport services for disabled people, also through agreements with public bodies.
  10. Organization of trips to the mountains with trekking chairs and other sports / recreational activities for the disabled.

LONG TERM

  1. Organization of the third international scientific congress for LGMD2E and other sarcoglycanopathies.

 

OUR PROJECTS

ALREADY REALIZED:

  • Partecipation in the Sarepta-Myonexus Agreement and Myonexus Acquisition in Sarepta.
  • Participation in the costitution  of the American Company "Myonexus Therapeutics" at Columbus Ohio
  • FUNDING OF the PRECLINICAL phase of the gene therapy project of Prof. J. Mendell in Columbus Ohio ($ 900,000) USA + clinical trial ($ 400,000)
  • First National Conference GFB "What next?" April 19, 2013 – Milan Italy
  • First annual meeting of families GFB 7-8-9-10 August 2014 - Canazei (Trento) Italy
  • Second conference GFB ONLUS "LGMD Days" 15-16-17 October 2014 - Lido di Venezia (Venice) Italy
  • Creation of the network LGMD EuroNET October 17, 2014 - Lido di Venezia  Italy
  • Second meeting of LGMD EuroNET May 22th, 2015 - Naples Italy
  • Project “mobility of disabled people”: purchase of a van with a lift and related services. The GFB deals with two agreements for the school transport of 4 disabled people.
  • Project "School  for all", involves sending volunteers of the association to classes, when there is no assistance for the disabled
  • Project about Sport, Environment and Disability, funded with voluntary ban 2014
  • Second Annual Meeting of families GFB August 8-9-10-11th, 2015 - Valmalenco Italy
  • Project "Devices for the disabled", which provides  partial reimbursement of expenses for devices to families.
  • Project "Home Care", a home care service for people with disabilities 2015-2016.
  • Third Annual Meeting of families GFB July 2016 - Valmalenco Italy

PLANNED / IN PROGRESS:

  • Project "University  for all"
  • Project “mobility of disabled people”
  • Project "Let's talk",  psychological support for people with disabilities.

 

ARTICLES AND PUBLICATIONS

 

Give voice to beta-sarcoglycanopathy

 
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