Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
National Eye Institute (NEI)
Summary
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.
Description
Objective: Spinocerebellar Ataxia, type 7 (SCA7) is an autosomal dominant neurodegenerative disease characterized by progressive ataxia, retinal degeneration, and marked genetic anticipation. The objectives of this study are to 1) establish a cohort of participants with molecularly-confirmed SCA7 in anticipation of future clinical trials, 2) create a repository of plasma, DNA, and skin fibroblast samples from the accrued cohort of SCA7 participants, 3) formulate clinical outcome measures for future studies, and 4) acquire and perform preliminary analyses of data that may advance our understan…
Eligibility
- Age range
- 12–100 years
- Sex
- All
- Healthy volunteers
- No
* INCLUSION CRITERIA: To be eligible, the following inclusion criteria must be met, where applicable. 1. Participant must be 12 years of age or older. 2. Participant must be able to understand and sign the protocol s informed consent document on their own behalf OR, in the case of a minor, have a legal guardian/parent with the ability to do the same. 3. Participant must be able to produce a recordable electroretinogram (ERG). 4. Participant must have the ability to cooperate the required testing. Participants unable to cooperate with one or more tests may be included only at the discretion o…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland