Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

Conditions

• Spinocerebellar Ataxia

Eligibility Criteria

Sex

ALL

Age

12 Years - 100 Years

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Jul 11, 2016

Status verified

Jun 2026

Primary completion

Dec 31, 2028

Completion

Dec 31, 2028

Study Design

Enrollment

25 participants (estimated)

Arms

• Arm: Affected Participants
  Twenty-five (25) participants with molecularly-confirmed SCA7

Primary Outcome Measure

Amplitude and time of photopic and scotopic responses on electroretinogram [ Time Frame: Baseline to Years 1-5 ]

Central Contacts

• Ines E Espinal-Supp
  (301) 496-9715
  [email protected]
• Laryssa A Huryn, M.D.
  (301) 435-8810
  [email protected]

Locations (1)

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