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Sponsor study identifier
Secondary identifiers
observational
22
1 country
1
Study Start
July 11, 2016
Actual (reported)Primary Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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:
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
April 13, 2016
Actual (reported)April 18, 2016
Actual (reported)July 11, 2016
Actual (reported)December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Amplitude and time of photopic and scotopic responses on electroretinogram
Determine the amplitude and time of photopic and scotopic responses on electroretinogram
Baseline to Years 1-5
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
Twenty-five (25) participants with molecularly-confirmed SCA7
Participants will be recruited from neurology, genetics, and ophthalmology practices across the nation, as well as from the SCA7 patient support group (e.g., The National Ataxia Foundation). All advertisements will undergo IRB-approval before release. Referrals from investigators for participants under the 08-EI-0102 or 15-EI-0128 NEI protocols may be accepted.
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Laryssa A Huryn, M.D.
National Eye Institute (NEI)
22 participants (actual enrollment reported by the registry).
First Submitted
April 13, 2016
First Posted
April 18, 2016
Study Start
July 11, 2016
Actual (reported)Contact the study team to confirm eligibility.
Primary Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
December 31, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
October 29, 2026
Record last verified: 2026-09-11
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Source: ClinicalTrials.gov.
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