title: Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.
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.
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. teresinha.evangelista@ncl.ac.uk.
authors.forename: Teresinha
authors.initials: T
authors.lastname: Evangelista
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: Libby
authors.initials: L
authors.lastname: Wood
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.|Neurology Department, Donostia University Hospital, Donostia-San Sebastian, Spain.|Neuromuscular Area, Biodonostia Health Research Institute, Donostia-San Sebastian, Spain.
authors.forename: Roberto
authors.initials: R
authors.lastname: Fernandez-Torron
authors.affiliation: Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
authors.forename: Maggie
authors.initials: M
authors.lastname: Williams
authors.affiliation: Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
authors.forename: Debbie
authors.initials: D
authors.lastname: Smith
authors.affiliation: Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Lunt
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: Judith
authors.initials: J
authors.lastname: Hudson
authors.affiliation: Department of Neurology, King's College Hospital, London, UK.
authors.forename: Fiona
authors.initials: F
authors.lastname: Norwood
authors.affiliation: Department of Neurology, King's College Hospital, London, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Orrell
authors.affiliation: The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK.
authors.forename: Tracey
authors.initials: T
authors.lastname: Willis
authors.affiliation: Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.
authors.forename: David
authors.initials: D
authors.lastname: Hilton-Jones
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: Karen
authors.initials: K
authors.lastname: Rafferty
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: Michela
authors.initials: M
authors.lastname: Guglieri
authors.affiliation: John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual / Q000706:statistics & numerical data; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology*; D012042:Registries; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D006113:United Kingdom; D055815:Young Adult
keywords: Clinical trials; Data sharing; FSHD; Minimal dataset; Rare diseases; Registries