Clinical Trial: Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

Brief Summary:

Background:

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 wat

    Detailed Summary:

    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:

    In this natural history study, participants will be followed for at least five years. Because three years may be required to enroll 25 participants, this study will last up to eight years. All participants will undergo a standardized medical/ophthalmic history and a complete baseline eye examination, including non-invasive electrophysiology (e.g., electroretinography), psychophysiology (e.g., microperimetry, static perimetry), and diagnostic imaging examinations (e.g., optical coherence tomography). In addition, participants will undergo a detailed neurology exam, neuroimaging (MRI, including special sequences) and neuropsychologic assessment.

    To establish baseline, the participants will undergo two separate detailed eye examinations and a single neurology/neuroimaging examination within a one to two we
    Sponsor: National Eye Institute (NEI)

    Current Primary Outcome: The primary outcome for this study is determination of the amplitude and time of photopic and scotopic responses on electroretinogram. [ Time Frame: Every 12 months ]

    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    • Secondary outcomes include changes in visual acuity, microperimetry, peripheral visual field, color vision, macular thickness, and neurologic outcome variables. [ Time Frame: Every 12 months ]
    • Exploratory outcomes include: 1)formulation of clinical outcome measures for future studies and 2)acquisition and preliminary analysis of data that may advance our understanding of the progression of retinal and neurodegeneration associated SCA7... [ Time Frame: Ongoing ]


    Original Secondary Outcome: Same as current

    Information By: National Institutes of Health Clinical Center (CC)

    Dates:
    Date Received: April 13, 2016
    Date Started: April 4, 2016
    Date Completion: March 2, 2019
    Last Updated: April 21, 2017
    Last Verified: March 21, 2017