Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Teresinha Evangelista,Michela Guglieri,Debbie Smith,Roberto Fernandez-Torron,Fiona Norwood,Tracey Willis,Karen Rafferty,Richard Orrell,Hanns Lochmüller,Judith Hudson,Maggie Williams,David Hilton-Jones,Peter Lunt,Libby Wood

doi:10.1007/s00415-016-8132-1

Abstract

Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies. Patient identification, through registries or other means is essential for trial-readiness. The UK FSHD Patient Registry is a patient initiated registry that collects standardised and internationally agreed dataset of self-reported clinical details combined with professionally verified genetic information. It includes four additional questionnaires to capture patient reported outcomes related to pain, quality of life and scapular fixation. Between 2013 and 2015, 518 patients registered 243 males, 241 females with a mean age of 47.8 years. Most of the patients have FSHD type 1 (91.7 %), and weakness of the facial (59.2 %) was the most prevalent symptom at onset, followed by shoulder-girdle muscles (53.3 %) and distal (22.45 %) or proximal lower limb weakness (14.8 %). 85.57 % patients were ambulant or ambulant with assistance at the time of registration, 7.9 % report respiratory insufficiency. The registry has demonstrated utility with the recruitment of patients for a natural history study of infantile onset FSHD, and the longitudinal analysis of patient-related outcomes will provide much-needed baseline information to power future trials. The internationally agreed core dataset enables national registries to participate in a “Global FSHD registry”. We suggest that the registry’s ability to interoperate with other large datasets will be instrumental for sharing and exploiting data globally.Electronic supplementary materialThe online version of this article (doi:10.1007/s00415-016-8132-1) contains supplementary material, which is available to authorized users.

Highlights

Facioscapulohumeral dystrophy (FSHD) one of the three most frequent neuromuscular disorders [1] with an estimated prevalence of 1/15,000–1/ 20,000 [2, 3]
The UK FSHD Patient Registry is a patient initiated registry that collects standardised and internationally agreed dataset of self-reported clinical details combined with professionally verified genetic information
The UK FSHD registry collects all mandatory and highly encouraged items outlined in this dataset for both patients with FSHD1 and FSHD2 and is coordinated from the John Walton Muscular Dystrophy Research Centre, Newcastle, UK

Summary

Introduction

FSHD one of the three most frequent neuromuscular disorders [1] with an estimated prevalence of 1/15,000–1/ 20,000 [2, 3]. There is currently no treatment to slow down, reverse or cure the symptoms of FSHD. Symptoms usually start around the second decade and are characterised by progressive and sometimes markedly asymmetric muscle weakness, affecting the facial, scapular or humeral muscles. Muscle weakness may involve the abdominal muscles and the muscles of the legs and feet [4]. FSHD is an autosomal dominant disease associated in the majority of patients (95 %) with a contraction of a polymorphic repeat D4Z4 on chromosome 4qA (FSHD1) [5,6,7].

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Conclusion