Natural History of Spinocerebellar Ataxia Type 7 (SCA7) (NCT02741440) | Clinical Trial Compass
RecruitingNot Applicable
Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
United States25 participantsStarted 2016-07-11
Plain-language 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.
Who can participate
Age range
12 Years – 100 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Participant must be 12 years of age or older.
. 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.
. Participant must be able to produce a recordable electroretinogram (ERG).
. 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.
. Participant must be willing and able to provide a blood sample.
. Any female participant of childbearing potential must agree to have pregnancy testing prior to undergoing MRI.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Amplitude and time of photopic and scotopic responses on electroretinogram
. 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
. Participant is unable to cooperate with ophthalmic/neurologic testing, including inability to undergo brain MRI without sedation.
. Participant has comorbidity, unrelated to ocular pathology, compromising the ability to view/image the retina and/or record an ERG.