The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2022-108568
Abstract: FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional… read more here.
Keywords: trial readiness; premutation; international fragile; fragile premutation ... See more keywords
Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome
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DOI: 10.1186/s13023-022-02240-w
Abstract: Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there… read more here.
Keywords: development; rett syndrome; trial readiness; trial ... See more keywords
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-221538
Abstract: Several successful clinical trials have been conducted in spinal muscular atrophy (SMA) over recent years which have led to the approval of splicing modifiers and gene transfer therapies. With an increasing number of other agents… read more here.
Keywords: training initiative; clinical trial; trial readiness;