NCT04529252

Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,000 (estimated)
• Sponsor: Mayo Clinic · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

The purpose of this study is to create a repository for cerebellar ataxia and nucleotide repeat diseases in order to fully investigate the genetic and phenotypic presentations of both.

Detailed description

The investigators are initiating a new program dedicated to the research and study of neurodegenerative forms of spinocerebellar ataxia as well and other nucleotide repeat diseases with the exclusion of Huntington's Disease. The analysis will be conducted to provide better clinical, genetic, and pathological characterizations of neurodegenerative forms of spinocerebellar ataxia. The investigators would like to create a repository for samples on these cases as well as prospective cases who are seen via clinic, support groups, referrals etc. The investigators will perform clinical evaluations utilizing ataxia pertinent scales. The investigators project to expand the present genealogical bank by collecting more specimens and identify more families in the process. All this will be performed in collaboration with basic scientists in order to conduct proper laboratory investigation that will help arrive at a cure for neurodegenerative forms of spinocerebellar ataxia and nucleotide repeat diseases excluding Huntington's Disease .

Conditions

• Spinocerebellar Ataxias
• Cerebellar Ataxia
• Nucleotide Repeat Disease

Interventions

Type	Name	Description
OTHER	Specimen collection	Blood, urine, stool, cerebrospinal fluid, and skin biopsy may be collected

Timeline

• Start date: 2017-07-17
• Primary completion: 2026-12-01
• Completion: 2026-12-01
• First posted: 2020-08-27
• Last updated: 2026-03-24

Locations

1 site across 1 country: United States