The French National Registry of patients with Facioscapulohumeral muscular dystrophy.

ABSTRACT:

Background

Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the development of targeted therapies, patients' identification through registries can facilitate and improve recruitment in clinical trials and studies.

Results

The French National Registry of FSHD patients was designed as a mixed model registry involving both patients and physicians, through self-report and clinical evaluation questionnaires respectively, to collect molecular and clinical data. Because of the limited number of patients, data quality is a major goal of the registry and various automatic data control features have been implemented in the bioinform

SUBMITTER: Guien C 

PROVIDER: S-EPMC6280451 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature