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1.
Ann Clin Transl Neurol ; 7(5): 757-766, 2020 05.
Article in English | MEDLINE | ID: mdl-32342672

ABSTRACT

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.


Subject(s)
Muscular Dystrophies, Limb-Girdle/genetics , Pentosyltransferases/genetics , Registries , Walker-Warburg Syndrome/genetics , Adolescent , Adult , Age of Onset , Aged , Child , Cohort Studies , Female , Humans , Male , Middle Aged , Muscular Dystrophies, Limb-Girdle/physiopathology , Phenotype , Walker-Warburg Syndrome/physiopathology , Young Adult
2.
Curr Sports Med Rep ; 16(4): 219-220, 2017.
Article in English | MEDLINE | ID: mdl-28696980
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