Genetic mechanism of conserved ancestral haplotype in SCA10
The purpose of this study is to examine the disease-causing mechanism of an inherited neurological disorder called Spinocerebellar Ataxia Type 10 (SCA10). The study is being done to determine the relationship between SCA10 and the DNA variation at a specific location on a chromosome and to determine its disease causing mechanism in SCA10.
ClinicalTrials.gov Link: clinicaltrials.gov/ct2/show/NCT04495426
About the Study
Eligible Ataxia Types
Type of Study
Clinical Trial Phase
Study Start Date
Estimated Completion Date
IRB Approval #
What does participation in the study entail?
You will be asked to be in the study for about 18 months. The study will involve collection of blood and skin tissues to obtain biological and genetic information. The genetic information is coded by your DNA, the molecule containing genetic codes that coordinate the operation and development of all living beings. The biological information will be studied in cell cultue prepared from the skin biopsy. You will also be asked to undergo non-invasive procedures (EEG and MRI). Additionally, there will standard written questionnaires to evaluate your ataxia and overall impression of the disease and quality of life.
What are the potential benefits for participants?
There are no immediate benefits to you for participating in this study. However information obtained from this research is expected to improve our genetic knowledge of SCA10 which may become important in decreasing the frequency of SCA10 in population.
What are the potential risks for participants?
The most likely risks to you are falls and resultant injuries during evaluations, and bruises at puncture site after blood drawing, and bleeding and infection at the skin biopsy site. Every effort will be taken to minimize these risks as described in later in this document.
Is there financial compensation?
Is there travel reimbursement?
Yes. Travel reimbursement may be issued as needed.
Who is eligible?
We will recruit symptomatic participants, premanifest carriers and related non-carriers (at-risk siblings without a SCA10 expansion) members of SCA10 families who have been diagnosed with Spinocerebellar ataxia type 10 (SCA10) or those whose first-degree relative has a molecular diagnosis or SCA10.
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