spinocerebellar ataxia type 7

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Information
Disease name
spinocerebellar ataxia type 7
Disease ID
DOID:0050958
Description
"An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene." [url:https\://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03701399 Active, not recruiting Phase 3 Troriluzole in Adult Subjects With Spinocerebellar Ataxia March 8, 2019 October 2025
NCT05826171 Active, not recruiting N/A Priming Motor Learning Through Exercise in People With Spinocerebellar Ataxia February 6, 2023 May 31, 2025
NCT04288128 Completed Integrated Functional Evaluation of the Cerebellum May 28, 2020 June 1, 2022
NCT01793168 Recruiting Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford July 2010 December 2100
NCT04301284 Withdrawn Phase 2 Study of CAD-1883 for Spinocerebellar Ataxia June 2021 December 2022
Disase is a (Disease Ontology)
DOID:1441
Cross Reference ID (Disease Ontology)
MIM:164500
OrphaNumber from OrphaNet (Orphanet)
94147