Journal article
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Annals of clinical and translational neurology, Vol.7(5), pp.757-766
05/2020
DOI: 10.1002/acn3.51042
PMID: 32342672
Abstract
The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin-Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital muscular dystrophies MDC1C, Muscle-Eye-Brain Disease and Walker-Warburg Syndrome. The registry seeks to further understand the natural history and prevalence of FKRP-related conditions; aid the rapid identification of eligible patients for clinical studies; and provide a source of information to clinical and academic communities.
Registration is patient-initiated through a secure online portal. Data, reported by both patients and their clinicians, include: age of onset, presenting symptoms, family history, motor function and muscle strength, respiratory and cardiac function, medication, quality of life and pain.
Of 663 registered participants, 305 were genetically confirmed LGMDR9 patients from 23 countries. A majority of LGMDR9 patients carried the common mutation c.826C > A on one or both alleles; 67.9% were homozygous and 28.5% were compound heterozygous for this mutation. The mean ages of symptom onset and disease diagnosis were higher in individuals homozygous for c.826C > A compared with individuals heterozygous for c.826C > A. This divergence was replicated in ages of loss of running ability, wheelchair-dependence and ventilation assistance; consistent with the milder phenotype associated with individuals homozygous for c.826C > A. In LGMDR9 patients, 75.1% were currently ambulant and 24.6%, nonambulant (unreported in 0.3%). Cardiac impairment was reported in 23.2% (30/129).
The Global FKRP Registry enables the collection of patient natural history data, which informs academics, healthcare professionals and industry. It represents a trial-ready cohort of individuals and is centrally placed to facilitate recruitment to clinical studies.
Details
- Title: Subtitle
- Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
- Creators
- Lindsay B Murphy - John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UKOlivia Schreiber-Katz - Department of Neurology, Hannover Medical School, Hannover, GermanyKaren Rafferty - Institute of Population Health Sciences, University of Liverpool, Liverpool, UKAgata Robertson - John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UKAna Topf - John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UKTracey A Willis - The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UKMarcel Heidemann - Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, GermanySimone Thiele - Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, GermanyLaurence Bindoff - Department of Clinical Medicine, University of Bergen, Bergen, NorwayJean-Pierre Laurent - LGMD2i Research Fund, Bellevue, WashingtonHanns Lochmüller - The Brain and Mind Research Institute, University of Ottawa, Ottawa, CanadaKatherine Mathews - Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IowaClaudia Mitchell - Astellas Pharma, Tokyo, JapanJohn Herbert Stevenson - Cure LGMD2i, University of Massachusetts Medical School, Worcester, MassachusettsJohn Vissing - Department of Neurology, Copenhagen Neuromuscular Centre, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkLacey Woods - Patient Representative, Stanwood, WashingtonMaggie C Walter - Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, GermanyVolker Straub - John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK
- Resource Type
- Journal article
- Publication Details
- Annals of clinical and translational neurology, Vol.7(5), pp.757-766
- DOI
- 10.1002/acn3.51042
- PMID
- 32342672
- NLM abbreviation
- Ann Clin Transl Neurol
- ISSN
- 2328-9503
- eISSN
- 2328-9503
- Publisher
- United States
- Grant note
- DOI: 10.13039/100012440, name: Limb Girdle Muscular Dystrophy 2I
- Language
- English
- Date published
- 05/2020
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984070459302771
Metrics
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