spinocerebellar ataxia type 1

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Information
Disease name
spinocerebellar ataxia type 1
Disease ID
DOID:0050954
Description
"An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22." [url:https\://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1]
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
NCT03408080 Active, not recruiting Phase 3 Open Pilot Trial of BHV-4157 December 15, 2017 December 15, 2024
NCT05826171 Active, not recruiting N/A Priming Motor Learning Through Exercise in People With Spinocerebellar Ataxia February 6, 2023 May 31, 2025
NCT04268147 Active, not recruiting Instrumented Data Exchange for Ataxia Study June 1, 2019 June 30, 2024
NCT04153110 Completed N/A Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxia December 1, 2018 January 1, 2021
NCT01470729 Completed Biomarkers in Autosomal Dominant Cerebellar Ataxia November 2011 December 2015
NCT03120013 Completed N/A Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia February 6, 2017 December 1, 2018
NCT03378414 Not yet recruiting Phase 2 Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar Ataxia December 31, 2024 December 31, 2025
NCT01060371 Recruiting Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias April 2010 May 19, 2024
NCT01793168 Recruiting Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford July 2010 December 2100
NCT05822908 Recruiting Phase 1/Phase 2 A Safety and Pharmacokinetics Trial of VO659 in SCA1, SCA3 and HD February 14, 2023 September 15, 2025
NCT03487367 Unknown status Clinical Trial Readiness for SCA1 and SCA3 August 16, 2018 December 31, 2023
NCT04301284 Withdrawn Phase 2 Study of CAD-1883 for Spinocerebellar Ataxia June 2021 December 2022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)
GARD:4071
Cross Reference ID (Disease Ontology)
MIM:164400
OrphaNumber from OrphaNet (Orphanet)
98755