Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

NCT02741440 | Recruiting

• 2 other identifiers: 16009016-EI-0090
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Spinocerebellar Ataxia

Keywords

Spinocerebellar Ataxia; Natural History

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (1)

• 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

Study Arms (1)

Affected Participants

Twenty-five (25) participants with molecularly-confirmed SCA7

Eligibility Criteria

• Age: 12 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Spinocerebellar Ataxias

Condition Hierarchy (Ancestors)

Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Ataxia; Dyskinesias; Neurologic Manifestations; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Laryssa A Huryn, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ines E Espinal-Supp

CONTACT

(301) 496-9715; ines.espinal-supp@nih.gov

Laryssa A Huryn, M.D.

CONTACT

(301) 435-8810; laryssa.huryn@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 13, 2016
• First Posted: April 18, 2016
• Study Start: July 11, 2016
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): December 31, 2028
• Last Updated: April 20, 2026

Record last verified: 2026-04-14

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)