WHAT WE DO


OBJECTIVE

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 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, SMA1, LGMD2D 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 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-2D-2E-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.

MYONEXUS-SAREPTA AGREEMENT

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 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, 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.  

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.

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 Odv.
  4. Registration of patients LGMD2E to GFB Odv.
  5. Registration of patients  LGMD2C-D-F to GFB Odv.
  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 Odv.
  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) READ MORE
  • 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
  • #Capiamoci project, training courses for disabled assistants
  • #Conosciamoli project, training courses for volunteers of associations
  • #Incontriamoci project, zoom meeting for the disabled and their families
  • #GFBforCovidEmergency project, financial support to some entities for the Covid emergency
  • Project "Aids for the disabled", which provides for the partial reimbursement of expenses for aids to families
  • PONTI project, Telemedicine project at the Mondino hospital in Pavia READ MORE

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