Abstract
618P Global FKRP Registry - the research database for limb girdle muscular dystrophy 2I/R9
Neuromuscular disorders : NMD, Vol.43(Supplement 1), p.153
10/2024
DOI: 10.1016/j.nmd.2024.07.576
Abstract
The Global FKRP Registry is an international registry for individuals with conditions caused by mutation of the Fukutin-Related Protein gene (FKRP): limb girdle muscular dystrophy R9 (LGMDR9, also known as LGMD2I and MDDGC5 (Muscular Dystrophy-Dystroglycanopathy, Type C, 5)) and the congenital muscular dystrophies MDDGB5 (also known as MDC1C) and MDDGA5 (FKRP-related Muscle-Eye-Brain Disease and FKRP-related Walker-Warburg Syndrome). The registry seeks to further understanding of the natural history and prevalence of FKRP-related MD and to aid the rapid identification of eligible patients for clinical studies. It disseminates FKRP-relevant information; provides a source of information to academics, industry and healthcare professionals; and supports the FKRP community. Registration is patient-initiated through a secure online portal (www.fkrp-registry.org). Participants give their consent and are invited to complete a questionnaire about their condition. Data is reported by both patients and their healthcare professionals and includes gene mutation, age of onset, presenting symptoms, motor function and muscle strength, respiratory and cardiac function, and medication. In addition, participants are invited to complete validated questionnaires on quality of life (INQoL) and pain (McGill). In recent years, the registry has assisted recruitment to natural history studies and clinical trials in LGMDR9. It has facilitated research by responding to data enquiries and circulating surveys, demonstrating its effectiveness as a repository of patient data, a tool for data collection and assembly of a trial-ready patient cohort. In Spring 2024, the FKRP Registry Dataset expanded to include the TREAT-NMD LGMD Core Dataset and to collect the motor outcome measure North Star Assessment for limb-girdle type muscular dystrophies (NSAD). Implementation of the LGMD Core Dataset aligns the FKRP Registry with patient registries collecting data on other types of LGMD, enabling a coordinated, larger and potentially more powerful body of data to be collected on this diverse patient cohort. As knowledge of rare neuromuscular conditions increases and advances in the development of potential therapies are made, the registry is centrally placed to help support the accumulation of natural history and post-marketing surveillance data and facilitate recruitment to clinical trials.
Details
- Title: Subtitle
- 618P Global FKRP Registry - the research database for limb girdle muscular dystrophy 2I/R9
- Creators
- S. McDonald - Newcastle UniversityL. Murphy - Newcastle UniversityL. Alfano - Nationwide Children's HospitalK. Brazzo - CureLGMD2i Foundation, Lancaster, USAN. Johnson - Virginia Commonwealth UniversityJ. Laurent - Bellevue Hospital CenterK. Mathews - Carver College of Medicine, University of Iowa, Iowa City, USAS. Thiele - Ludwig-Maximilians-Universität MünchenJ. Vissing - University of CopenhagenM. Walter - Ludwig-Maximilians-Universität MünchenL. Woods - Patient representative, NA, USAK. Ørstavik - Oslo University HospitalV. Straub - Newcastle University
- Resource Type
- Abstract
- Publication Details
- Neuromuscular disorders : NMD, Vol.43(Supplement 1), p.153
- Publisher
- Elsevier B.V
- DOI
- 10.1016/j.nmd.2024.07.576
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Language
- English
- Date published
- 10/2024
- Academic Unit
- Stead Family Department of Pediatrics; Neurology; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984721136402771
Metrics
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