Matches in SemOpenAlex for { <https://semopenalex.org/work/W4205536108> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W4205536108 endingPage "S103" @default.
- W4205536108 startingPage "S103" @default.
- W4205536108 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, formerly LGMD2I) and the congenital muscular dystrophies (MD) MDC1C, Muscle-Eye-Brain Disease and Walker-Warburg Syndrome. The registry seeks to further understanding of the natural history and prevalence of FKRP-related MD. The purpose of the registry is 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. Participants give their consent and 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, medication, quality of life and pain. Currently, 829 patients are registered in the Global FKRP Registry, with an age range of 1-80 years. Registrations are from 50 countries, with the greatest numbers from the USA (27%), Germany (20%) and the UK (10%). Diagnoses are reported as LGMDR9 (89%), MDC1C (2%), other FKRP-related MD (1%), unspecified (8%). Seventy-one percent of patients are reported as being ambulant, 25% as non-ambulant and 4% as unspecified. The mutations reported within the registry are: 65% homozygous for the common mutation (c.826C>A), 29% heterozygous for the common mutation, 4% heterozygous with two unique mutations (non-c.826C>A) and 2% homozygous with one unique mutation. In the last year, the Global FKRP Registry has facilitated 12 enquiries, demonstrating its effectiveness as a tool for data collection and assembly of a trial-ready 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." @default.
- W4205536108 created "2022-01-25" @default.
- W4205536108 creator A5013098751 @default.
- W4205536108 creator A5020586105 @default.
- W4205536108 creator A5024926266 @default.
- W4205536108 creator A5027331665 @default.
- W4205536108 creator A5030754972 @default.
- W4205536108 creator A5049999743 @default.
- W4205536108 creator A5058567615 @default.
- W4205536108 creator A5060419627 @default.
- W4205536108 creator A5079436701 @default.
- W4205536108 creator A5080028004 @default.
- W4205536108 creator A5080572753 @default.
- W4205536108 date "2021-10-01" @default.
- W4205536108 modified "2023-09-27" @default.
- W4205536108 title "LGMD" @default.
- W4205536108 doi "https://doi.org/10.1016/j.nmd.2021.07.203" @default.
- W4205536108 hasPublicationYear "2021" @default.
- W4205536108 type Work @default.
- W4205536108 citedByCount "0" @default.
- W4205536108 crossrefType "journal-article" @default.
- W4205536108 hasAuthorship W4205536108A5013098751 @default.
- W4205536108 hasAuthorship W4205536108A5020586105 @default.
- W4205536108 hasAuthorship W4205536108A5024926266 @default.
- W4205536108 hasAuthorship W4205536108A5027331665 @default.
- W4205536108 hasAuthorship W4205536108A5030754972 @default.
- W4205536108 hasAuthorship W4205536108A5049999743 @default.
- W4205536108 hasAuthorship W4205536108A5058567615 @default.
- W4205536108 hasAuthorship W4205536108A5060419627 @default.
- W4205536108 hasAuthorship W4205536108A5079436701 @default.
- W4205536108 hasAuthorship W4205536108A5080028004 @default.
- W4205536108 hasAuthorship W4205536108A5080572753 @default.
- W4205536108 hasConcept C104317684 @default.
- W4205536108 hasConcept C126322002 @default.
- W4205536108 hasConcept C159110408 @default.
- W4205536108 hasConcept C187212893 @default.
- W4205536108 hasConcept C2778649560 @default.
- W4205536108 hasConcept C2779030066 @default.
- W4205536108 hasConcept C2779134260 @default.
- W4205536108 hasConcept C2779951463 @default.
- W4205536108 hasConcept C2908964109 @default.
- W4205536108 hasConcept C2994225774 @default.
- W4205536108 hasConcept C501734568 @default.
- W4205536108 hasConcept C54355233 @default.
- W4205536108 hasConcept C71924100 @default.
- W4205536108 hasConcept C86803240 @default.
- W4205536108 hasConceptScore W4205536108C104317684 @default.
- W4205536108 hasConceptScore W4205536108C126322002 @default.
- W4205536108 hasConceptScore W4205536108C159110408 @default.
- W4205536108 hasConceptScore W4205536108C187212893 @default.
- W4205536108 hasConceptScore W4205536108C2778649560 @default.
- W4205536108 hasConceptScore W4205536108C2779030066 @default.
- W4205536108 hasConceptScore W4205536108C2779134260 @default.
- W4205536108 hasConceptScore W4205536108C2779951463 @default.
- W4205536108 hasConceptScore W4205536108C2908964109 @default.
- W4205536108 hasConceptScore W4205536108C2994225774 @default.
- W4205536108 hasConceptScore W4205536108C501734568 @default.
- W4205536108 hasConceptScore W4205536108C54355233 @default.
- W4205536108 hasConceptScore W4205536108C71924100 @default.
- W4205536108 hasConceptScore W4205536108C86803240 @default.
- W4205536108 hasLocation W42055361081 @default.
- W4205536108 hasOpenAccess W4205536108 @default.
- W4205536108 hasPrimaryLocation W42055361081 @default.
- W4205536108 hasRelatedWork W1970256556 @default.
- W4205536108 hasRelatedWork W2029082543 @default.
- W4205536108 hasRelatedWork W2051937933 @default.
- W4205536108 hasRelatedWork W2052471337 @default.
- W4205536108 hasRelatedWork W2056367591 @default.
- W4205536108 hasRelatedWork W2104141100 @default.
- W4205536108 hasRelatedWork W2150327446 @default.
- W4205536108 hasRelatedWork W2374642557 @default.
- W4205536108 hasRelatedWork W2804483187 @default.
- W4205536108 hasRelatedWork W4297445772 @default.
- W4205536108 hasVolume "31" @default.
- W4205536108 isParatext "false" @default.
- W4205536108 isRetracted "false" @default.
- W4205536108 workType "article" @default.