Beatrice Vola
Observational study: the quality of life in patients with Beta-sarcoglycan, Alpha-sarcoglycan, and Gamma-sarcoglycan gene mutation
Autori
- BEATRICE VOLA (CHAIRMAN OF FAMILY GROUP OF BETA-SARCOGLYCANOPATHY (GFB FOUNDATION) – AUTHOR)
- MASSIMILIANO CERLETTI (UCL RESEARCH DEPARTMENT FOR SURGICAL BIOTECHNOLOGY, UCL INSTITUTE FOR IMMUNITY AND TRANSPLANTATION, CENTRE FOR SURGICAL INNOVATION, ORGAN REPAIR AND TRANSPLANTATION (CSIORT), UNIVERSITY COLLEGE LONDON, LONDON, UK – CO-AUTHOR)
- CARLES SANCHEZ RIERA (PH.D., HISTOLOGY AND EMBRYOLOGY UNIT DAHFMO, LA SAPIENZA UNIVERSITY, ROME, ITALY. – CO-AUTHOR)
- OREST SEMERYAK (CHAIRMAN OF THE BOARD. NGO “UKRAINIAN ASSOCIATION OF NEUROMUSCULAR DISEASES AND DISEASES OF THE PERIPHERAL NERVOUS SYSTEM” – CO-AUTHOR)
- CHAHNEZ CHARFI TRIKI (PROFESSOR OF NEUROLOGY, HEAD OF CHILD NEUROLOGY DEPARTMENT, HEDI CHAKER HOSPITAL, DIRECTOR OF RESEARCH-SFAX MEDICAL SCHOOL, SFAX, TUNISIA. – CO-AUTHOR)
- YVAN TORRENTE (PH.D., LABORATORY OF STEM CELLS OF THE DEPARTMENT OF MEDICAL-SURGICAL PATHOPHYSIOLOGY AND TRANSPLANTATION, UNIVERSITY OF MILAN, FOUNDATION IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO IN MILAN, ITALY. – CO-AUTHOR)
Presentatore
CARLES SANCHEZ RIERA (PH.D., HISTOLOGY AND EMBRYOLOGY UNIT DAHFMO, LA SAPIENZA UNIVERSITY, ROME, ITALY)
Modalità
Poster Session
Abstract
LGMDR3, LGMDR4, LGMDR5 are recessive autosomal diseases, there are no specific treatments.
In 2013 the Foundation named Family Group of Beta-sarcoglycanopathy (GFB Foundation; www.lgmd2e.org) was established to stimulate and support both basic and clinical research on these diseases.
Since 2012, families of the GFB Foundation funded a gene therapy research project for LGMDR4, under the supervision of Prof. J. Mendell, at the Ohio State University (Columbus, Ohio, USA). The first clinical trial, conducted by Sarepta Therapeutics, is currently underway.
In 2018 GFB Foundation promoted a natural history study on Italian patients affected by LGMD2E, published on 1st July 2021 in the journal “Frontiers in Neurology”, with the title “Clinical Determinants of Disease Progression in Patients with Beta-sarcoglycan Gene Mutations”, led by Prof. Yvan Torrente, of the University of Milan and Ospedale Maggiore Policlinico in Milan, Italy.
Since 2021 GFB has started an ongoing observational study on the quality of life in patients with Beta-sarcoglycan, Alpha-sarcoglycan, and Gamma-sarcoglycan gene mutation, again in collaboration with Prof. Yvan Torrente.
The study is aimed at international GFB patients. At this time 192 patients from 44 countries have joined the Project: in particular, 76 with LGMDR4, 51 with LGMDR5, 65 with LGMDR3. 601 questionnaires have already been filled out.
The ACTIVLIM, ABILHAND, EK, PEDSQL and PROMIS scales are used in the study, both in paper and electronic format. The study will run for 3 years and the scales will be given to patients every 6 months. Patient recruitment is still open at segreteria@beta-sarcoglicanopatie.it.