Status:
UNKNOWN
Genetic Mechanism of Conserved Ancestral Haplotype in SCA10
Lead Sponsor:
The Methodist Hospital Research Institute
Collaborating Sponsors:
Hospital de Clinicas de Porto Alegre
Conditions:
Spinocerebellar Ataxia Type 10
Eligibility:
All Genders
18+ years
Brief Summary
Spinocerebellar ataxia type 10 (SCA10) is a hereditary ataxia whose ancestral mutation occurred in East Asia. The mutation is likely to have migrated during peopling of American continents from East A...
Detailed Description
Spinocerebellar ataxia type 10 (SCA10) is a rare ataxic disorder due to a large expansion of intronic (ATTCT)n repeat in ATXN10. SCA10 afflicts primarily Latin American (LA) populations of Native Amer...
Eligibility Criteria
Inclusion
- Signed informed consent (no study-related procedures may be performed before the subject has signed the consent form).
- Participants of either sex aged ≥18 with presence of symptomatic ataxic disease with definite molecular diagnosis of SCA10 or whose first-degree relative has a molecular diagnosis of SCA10.
- Asymptomatic participants of either sex aged ≥18 with definite molecular diagnosis of SCA10 (Premanifest carriers) or those whose first-degree relative has a molecular diagnosis of SCA10 (50%-at-risk relatives\*).
- Participants capable of understanding and complying with protocol requirements.
Exclusion
- Known genotype consistent with other inherited ataxias.
- Concomitant disorder(s) or condition(s) that affects assessment of ataxia or severity of ataxia during this study.
- Unwillingness to provide a DNA sample at study entry.
- Inability to undergo MRI scanning, Weight over 300lbs, Presence of structural abnormalities such as subdural hematoma or primary or metastatic neoplasms, concurrent illnesses or treatment interfering with cognitive function such as stroke or normal pressure hydrocephalus.
Key Trial Info
Start Date :
September 15 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2023
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT04495426
Start Date
September 15 2020
End Date
December 31 2023
Last Update
September 1 2021
Active Locations (3)
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1
Houston Methodist Hospital
Houston, Texas, United States, 77030
2
Universidade Federal do Paraná
Paraná, Curibita, Brazil, 80250-210
3
Hospital de Clinicas de Porto Alegre
Porto Alegre, Brazil, 90.035-903