Genetic Mechanism of Conserved Ancestral Haplotype in SCA10
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- STATUS
- Recruiting
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- participants needed
- 100
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- sponsor
- The Methodist Hospital System
Summary
Description
Aim 1. To determine the relationship between SCA10 and the G allele at rs41524547.
Aim 2. To confirm that Type B and Type C expansions are pathogenic, but Type A expansions have significantly reduced pathogenicity.
Aim 3. To determine if the G allele at rs41524547 reduces downstream recombination rates, protects against the toxicity of SCA10 RNA expansions, or promote expanded states of the SCA10 repeat.
This effort will enable long term goals to: (1) identify people at risk for SCA10 by high-throughput screening of general populations for the G allele at rs41524547 in Brazil, (2) determine the frequency of non-penetrant SCA10 expansion alleles in Brazil, and (3) develop treatments of SCA10 based on results of this project.
The proposed project requires complimentary expertise in multiple areas, including coordination of the clinical studies, along with recruitment plans and executions, management of tissue repository, maintenance and expansion of the clinical database, clinical MR technology and data analyses, which will be ongoing in both the US and Brazil.
Details
Condition |
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---|---|
Age | 18years - 100years |
Treatment | Non-interventional study |
Clinical Study Identifier | NCT04495426 |
Sponsor | The Methodist Hospital System |
Last Modified on | 19 February 2024 |
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