partecipate in the quality project

Written on 13 April 2021

WHO WE ARE

The QUALITY project has been promoted by GFB Odv www.lgmd2e.org. GFB have been dealing with Limb girdle muscular distrophy types 2C/R5-2D/R3-2E/R4 (alfa, beta and gamma sarcoglicanopathy) for 11 years and with the specific scientific research. The president and founder is Beatrice Vola.

BACKGROUND

As far as 2010 the Limb girdle muscular distrophy (LGMD) was considered a neglected pathology, this means that there was no scientific research on the disease. There were no specific organizations for this disease and clinical studies on patients were very few.

There is currently only one research project for LGMD2E or LGMDR4, based on gene therapy and, at the moment, the first clinical trial on patients is underway, by Sarepta Therapeutics. You can see the trial structure on clinicaltrials.gov at the following link:

https://clinicaltrials.gov/ct2/show/NCT03652259?cond=lgmd2e&draw=2&rank=2

There are no registries for LGMD2E or LGMDR4 and other forms of LGMD2D or LGMDR3 and 2C or LGMDR5. Other gene therapy studies on LGMD2D or LGMDR3 and 2C or LGMDR5 are ongoing and very soon clinical trials phase 1 will start. You can find further information on GFB site at the following link:

http://www.beta-sarcoglicanopathy.org/scientific-research.html

At present, GFB is the only existing organization dealing with LGMD2E or LGMDR4. For the last 11 years, GFB have been concerned in looking for other families affected by this disease and, nowadays, we are in contact with more than 600 patients, all over the world and belonging to different groups. We strongly believe that together we can do more!

GFB would be to start the Quality project to better define the data collected in the past years.

OBJECTIVES OF THE QUALITY PROJECT

  • To structure the GFB patients data
  • To study the patients’ quality of life
  • To study the new theraphies impact on the quality of life
  • It focuses on LGMD2E or LGMDR4 patients and, in a following phase, it will focus on LGMD2C or LGMDR5 and 2D or LGMDR3
  • To promote the patients access to any future clinical trials.

PARTECIPANTS

  • GFB patients
  • International groups patients
  • Patients belonging to associations in Europe
  • Patients belonging to associations in the USA
  • Patients belonging to other international associations
  • Professor Yvan Torrente and doctor Chiara Villa , Policlinico di Milano, Italy.
  • Other clinical centers either in Europe or international ones.

SURVEY

In the questionnaire you’ll find questions related to the following subject areas:

  • General information
  • Mobility
  • Carrying out daily activities
  • Fatigue in carrying out daily activities
  • Psychological well-being

The questions will be semi-structured with the prevailing multiple-choice type.

TIMELINE

In 2021 the first survey will be administered to the patients affected by LGMD2C-2D-2E (or LGMDR5-LGMDR3-LGMDR4). In the following years, other updating surveys will be administered to study the pathology evolution. We think that we’ll do the survey at least every two years.

REFUNDS

There is the possibility to give a funding to the centers that will take part in the project.

PUBLICATION

All the data will be collected with the patients’ informed consent . The data will be processed for statistical porposes and published on a scientific magazine. In the article, all the associations and the clinical centers taking part to the survey will be mentioned among the authors.

HOW TO TAKE PART IN THE QUALITY PROJECT

Please send an email to  This email address is being protected from spambots. You need JavaScript enabled to view it. .

For further information, you can ask for a video call on Zoom with the Quality Project staff.

FINANCIERS

The project is fully funded by GFB.

Together we are stronger, together we can!

©2020 GFBONLUS.IT - GRUPPO FAMILIARI BETA-SARCOGLICANOPATIE
+39 328 0075986 This email address is being protected from spambots. You need JavaScript enabled to view it.

Via Civasca 112 23018 Talamona - SO  Italia

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