P.168 Observational study: The quality of life in patients with alpha-sarcoglycan, beta-sarcoglycan and gamma-sarcoglycan gene mutation

Abstract

LGMDR3, LGMDR4, LGMDR5 are recessive autosomal diseases, there are no specific treatments, except for some physical therapies that prevent worsening of muscle contractures and therapies associated with cardiac and respiratory problems. In 2013 the volunteer organization named Family Group of Beta-sarcoglycanopathy (GFB ODV; www.lgmd2e.org) was established to stimulate and support basic and clinical research on these diseases. Since 2012, families of the GFB ODV funded a research project of gene therapy 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 Odv promoted a natural history study on Italian patients "Clinical Determinants of disease progression in patients with beta-sarcoglycan gene mutations", led by Prof. Yvan Torrente, of the University of Milan, Ospedale Maggiore Policlinico in Milan, Italy. Since 2021 GFB Odv 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 139 patients from 45 countries have joined the Project: in particular, 68 with LGMDR4, 32 with LGMDR5, 39 with LGMDR3. 201 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.