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Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  3. Editorial: Remaining diagnostic issues and start of a treatment era for muscle diseases

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Lindsay B Murphy
  • Olivia Schreiber-Katz
  • Karen Rafferty
  • Agata Robertson
  • Ana Topf
  • Tracey A Willis
  • Marcel Heidemann
  • Simone Thiele
  • Laurence Bindoff
  • Jean-Pierre Laurent
  • Hanns Lochmüller
  • Katherine Mathews
  • Claudia Mitchell
  • John Herbert Stevenson
  • John Vissing
  • Lacey Woods
  • Maggie C Walter
  • Volker Straub
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OBJECTIVE: 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.

METHODS: 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.

RESULTS: 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).

INTERPRETATION: 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.

OriginalsprogEngelsk
TidsskriftAnnals of Clinical and Translational Neurology
Vol/bind7
Udgave nummer5
Sider (fra-til)757-766
Antal sider10
ISSN2328-9503
DOI
StatusUdgivet - maj 2020

Bibliografisk note

© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

ID: 61075399