Actively Recruiting
Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
Led by National Eye Institute (NEI) · Updated on 2026-05-13
25
Participants Needed
1
Research Sites
650 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Spinocerebellar ataxia type 7 (SCA7) is a disease in which people have problems with coordination, balance, speech and vision. It is caused by a change in the ATXN7 gene. A mutation in this ATXN7 gene causes changes in eye cells, which can lead to vision loss. There is no cure for SCA7 but researchers are looking for possible treatments. Researchers need more information about SCA7. They want to collect vision and neurology related data from people with SCA7. They want to learn how and what changes in the eye and brain when the ATXN7 gene isn t working properly. Objective: To learn more about SCA7 and its progression. Eligibility: People ages 12 and older with SCA7. Design: Participants will be screened with medical history and genetic testing from a previous National Eye Institute study or their personal physician. Participants will have at least 7 visits over 5 years. They will have 2 visits during the first week of the study. Then they will be asked to come back every year for the next 5 years. Each visit will last several days and will include: * Medical and eye history * Several eye tests: some will include dilating the pupil with eye drops and taking photos or scans of the eyes. * Electroretinography (ERG): Participants will sit in the dark with their eyes patched for 30 minutes. After this, the patches will be removed and contact lenses put into the eyes. They will watch flashing lights and information will be recorded. * Neurological exams: Sensation, strength, coordination, reflexes, attention, memory, language, and other cognitive functions will be tested. * Brain MRI: They will lie in a machine that takes pictures of the brain. * Blood and urine tests * Optional skin biopsy: About 3 millimeters of skin will be removed for more research testing; this is half the size of a pencil eraser.
CONDITIONS
Official Title
Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant must be 12 years of age or older.
- Participant must be able to understand and sign the informed consent or have a legal guardian/parent who can.
- Participant must be able to produce a recordable electroretinogram (ERG).
- Participant must be able to cooperate with the required testing; exceptions may be allowed by the Principal Investigator.
- Participant must be willing and able to provide a blood sample.
- Female participants of childbearing potential must agree to pregnancy testing before MRI.
- Participant must have molecularly-confirmed symptomatic SCA7 with more than 35 CAG repeats in the ATXN7 gene, or have clinical findings consistent with SCA7 and a relative with molecular diagnosis, or have clinical findings with molecular diagnosis confirmed within six months.
You will not qualify if you...
- Participant is unable to cooperate with eye or neurological testing, including inability to undergo brain MRI without sedation.
- Participant has other medical conditions unrelated to eye disease that prevent viewing or imaging the retina or recording an ERG.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
I
Ines E Espinal-Supp
CONTACT
L
Laryssa A Huryn, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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