Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 22
- 试验地点
- 1
- 主要终点
- Amplitude and time of photopic and scotopic responses on electroretinogram
研究概览
简要总结
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.
详细描述
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 understanding of the progression of retinal and neurodegeneration associated with molecularly-confirmed SCA7.
Study Population:
Twenty-five (25) participants, ages 12 and above, with molecularly-confirmed SCA7 will be accrued for this study.
Design:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 12 Years 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •INCLUSION CRITERIA:
- •To be eligible, the following inclusion criteria must be met, where applicable.
- •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.
- •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.
排除标准
- •A participant is not eligible if any of the following exclusion criteria are present.
- •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.
研究组 & 干预措施
Affected Participants
Twenty-five (25) participants with molecularly-confirmed SCA7
结局指标
主要结局
Amplitude and time of photopic and scotopic responses on electroretinogram
时间窗: Baseline to Years 1-5
Determine the amplitude and time of photopic and scotopic responses on electroretinogram
次要结局
- changes in visual acuity, microperimetry, color vision, macular thickness, neurologic (including neuroimaging) outcome variables, eye movement recordings (e.g., saccadic velocity) and results of neuropsychologic testing(Baseline to years 1-5)