Genetic Mechanism of Conserved Ancestral Haplotype in SCA10
Status unconfirmed
Conditions studied: Spinocerebellar Ataxia Type 10
In brief
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 Asia. We found a specific rare DNA variation associated with SCA10. We test whether this variation played a key role in the birth and subsequent spreading of SCA10 mutation.
Key facts
- Study ID
- NCT04495426
- Run by
- The Methodist Hospital Research Institute
- People needed
- 100
- Starts
- 2020-09-15
- Expected to finish
- 2023-12-31
- Last updated by the study team
- 2021-09-01
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- 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.
You may not qualify if…
- 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.
Where it is running
- Houston Methodist Hospital — Houston, Texas, United States (enrolling)
- Universidade Federal do Paraná — Paraná, Curibita, Brazil (enrolling)
- Hospital de Clinicas de Porto Alegre — Porto Alegre, Brazil (enrolling)
Full record on ClinicalTrials.gov
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