The French National Registry of patients with Facioscapulohumeral muscular dystrophy

Abstract

BackgroundFacioscapulohumeral 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.ResultsThe 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 bioinformatics system. In parallel, data are manually validated by molecular and clinical curators. Since its creation in 2013, data from 638 FSHD patients have been collected, representing about 21% of the French FSHD population. The mixed model strategy allowed to collect 59.1% of data from both patients and clinicians; 26 and 14.9% from respectively patients and clinicians only. With the identification of the FSHD1 and FSHD2 forms, specific questionnaires have been designed. Though FSHD2 patients are progressively included, FSHD1 patients still account for the majority (94.9%). The registry is compatible with the FAIR principles as data are Findable, Accessible and Interoperable. We thus used molecular standards and standardized clinical terms used by the FILNEMUS French network of reference centers for the diagnosis and follow-up of patients suffering from a rare neuromuscular disease. The implemented clinical terms mostly map to dictionaries and terminology systems such as SNOMED-CT (75% of terms), CTV3 (61.7%) and NCIt (53.3%). Because of the sensitive nature of data, they are not directly reusable and can only be accessed as aggregated data after evaluation and approval by the registry oversight committee.ConclusionsThe French National Registry of FSHD patients belongs to a national effort to develop databases, which should now interact with other initiatives to build a European and/or an international FSHD virtual registry for the benefits of patients. It is accessible at www.fshd.fr and various useful information, links, and documents, including a video, are available for patients and professionals.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0960-x) contains supplementary material, which is available to authorized users.

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

“…According to data provided by the FSH Society, we were able to compare a total of 23 FSHD registries located in 5 continents (4 in Asia, 1 in Africa, 4 in America, 11 in Europe and 3 in Oceania) [27][28][29][30][31][32] which were collectively analyzed based on patient's number within and on specific features as reported in Fig. 3 and in Additional file 2.…”

The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)

“…Dutch patients were recruited at the Department of Neurology of the Radboud University Medical Center, Nijmegen, the Netherlands, as part of a large observational cohort study (FSHD-FOCUS study) [20,21]. UK, US and French patients were recruited through the respective national FSHD registries [9,[22][23][24]. Australian patients were recruited through the neuromuscular clinic of the Concord Hospital Medical Center, Concord, Australia.…”

Diagnosis of Cardiac Abnormalities in Muscular Dystrophies

“…It is not common for patients to present respiratory or cardiac involvement. However, cases of patients with restrictive lung disease have been reported for severe cases where the patient is usually a wheelchair user [ 45 , 46 ]. A recent study on 56 adult patients with facioscapulohumeral dystrophy type 1 was conducted in order to determine cardiac involvement.…”