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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-05-09

AUTHORS

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

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. More... »

PAGES

1401-1408

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00415-016-8132-1

DOI

http://dx.doi.org/10.1007/s00415-016-8132-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1051087044

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27159994


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30 schema:description 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.
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39 FSHD type 1
40 Global FSHD registry
41 Patient Registry
42 UK FSHD Patient Registry
43 UK facioscapulohumeral muscular dystrophy patient registry
44 ability
45 additional questionnaire
46 age
47 analysis
48 assistance
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52 core dataset
53 data
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55 design
56 detail
57 development
58 disease
59 dystrophy
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61 facioscapulohumeral dystrophy
62 facioscapulohumeral muscular dystrophy patient registry
63 females
64 fixation
65 future trials
66 genetic information
67 history studies
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69 infantile onset FSHD
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72 insufficiency
73 large datasets
74 life
75 limb weakness
76 longitudinal analysis
77 lower limb weakness
78 males
79 mean age
80 means
81 muscle
82 muscular dystrophy patient registry
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84 natural history studies
85 neuromuscular disease
86 onset
87 onset FSHD
88 outcomes
89 pain
90 patient identification
91 patient initiated registry
92 patient-related outcomes
93 patients
94 people
95 power future trials
96 prevalent symptoms
97 progress
98 quality
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100 questionnaire
101 recruitment
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