New study tracks rare disease SCA7 to uncover clues for future treatments

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* 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 of the Principal Investigator. 5. Participant must be willing and able to provide a blood sample. 6. Any female participant of childbearing potential must agree to have pregnancy testing prior to undergoing MRI. 7. Participant has molecularly-confirmed, symptomatic SCA7, as defined by CAG repeat expansion in the ATXN7 gene of greater than 35 repeats. Accrual will be biased towards those with lower numbers of abnormal repeats (above 35 repeats) as they are most likely to be able to cooperate with testing. Participants who have clinical findings consistent with SCA7 and a relative who has had molecular diagnosis, may be included in the study with subsequent confirmation of the number of repeats. Patients who have clinical findings consistent with SCA7, but no molecular diagnosis may be evaluated under an NEI screening, genetics bank, or evaluation and treatment protocol with subsequent molecular diagnosis performed within six months of their initial visit. EXCLUSION CRITERIA: A participant is not eligible if any of the following exclusion criteria are present. 1. Participant is unable to cooperate with ophthalmic/neurologic testing, including inability to undergo brain MRI without sedation. 2. Participant has comorbidity, unrelated to ocular pathology, compromising the ability to view/image the retina and/or record an ERG.