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 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.

Conclusions: The 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.

Keywords: Database; FSHD; FSHD1; FSHD2; Facioscapulohumeral muscular dystrophy; Myopathy; Patient registry.

Fig. 1

Actors of the French National Registry of FSHD patients

Fig. 2

Data collection between 2013 and 2017. Number of patients with data collected through self-report questionnaires (plain grey), and clinical evaluation questionnaires for FSHD1 patients (checkerboard pattern) and FSHD2 patients (plain black)

Fig. 3

Number of inclusion and follow-up questionnaires between 2013 and 2017. Black = inclusions; Grey = follow-up; Plain lines = self-report questionnaires; dashed lines = clinical evaluation questionnaires

Fig. 4

Age composition of the French FSHD registry population. Left = women; right = men. Dark grey = French population; light grey = FSHD population. Bottom Y-axis = number of individuals in the French population by age; Top Y-axis = number of FSHD patients by age group (every 10 years)

Fig. 5

Associated clinical features for FSHD patients without (grey) or with (checkerboard pattern) respiratory involvement. 1 = Dry eyes; 2 = Inability to fully close eyes during sleep; 3 = Eyelid closure; 4 = Pucker: able to whistle / mimic a kiss; 5 = Wrinkle forehead; 6 = Smile; 7 = Show teeth; 8 = Cardiac involvement; 9 = Respiratory involvement; 10 = Gastrointestinal involvement; 11 = Hearing involvement; 12 = Ocular involvement; 13 = Metabolic involvement; 14 = Endocrine involvement