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

Autor: Richard W. Orrell, David Hilton-Jones, Judith Hudson, Hanns Lochmüller, Maggie Williams, Teresinha Evangelista, Libby Wood, Michela Guglieri, Debbie Smith, Peter Lunt, Fiona Norwood, Tracey Willis, Karen Rafferty, Roberto Fernández-Torrón
Rok vydání: 2016
Předmět:
Adult
Male
0301 basic medicine
Weakness
medicine.medical_specialty
Neuromuscular disease
Adolescent
Databases
Factual
Clinical Neurology
Young Adult
03 medical and health sciences
Age Distribution
Clinical trials
0302 clinical medicine
Quality of life
Surveys and Questionnaires
medicine
Humans
Facioscapulohumeral muscular dystrophy
Registries
Young adult
Child
Aged
Retrospective Studies
Aged
80 and over
FSHD
Original Communication
business.industry
Retrospective cohort study
Middle Aged
medicine.disease
Muscular Dystrophy
Facioscapulohumeral
United Kingdom
Rare diseases
3. Good health
Clinical trial
030104 developmental biology
Neurology
Child
Preschool
Physical therapy
Female
Data sharing
Neurology (clinical)
medicine.symptom
business
Minimal dataset
030217 neurology & neurosurgery
Natural history study
Zdroj: Journal of Neurology
ISSN: 1432-1459
0340-5354
Popis: 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 material The online version of this article (doi:10.1007/s00415-016-8132-1) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE
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