This study is currently recruiting participants.
Number
16-EI-0090
Sponsoring Institute
National Eye Institute (NEI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 12 Years Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
Adults who are or may become unable to consent
Keywords
Spinocerebellar Ataxia; Natural History
Recruitment Keyword(s)
None
Condition(s)
Spinocerebellar Ataxia
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Eye Institute
Spinocerebellar ataxia type 7 (SCA7) is 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.
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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.
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.
Principal Investigator
Referral Contact
For more information: