Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry
| العنوان: | Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry |
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| المؤلفون: | 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 |
| المصدر: | Journal of Neurology |
| بيانات النشر: | Springer Science and Business Media LLC, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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. |
| تدمد: | 1432-1459 0340-5354 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87799fd1b21132b5bbcd8cf8445c367cTest https://doi.org/10.1007/s00415-016-8132-1Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....87799fd1b21132b5bbcd8cf8445c367c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14321459 03405354 |
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