Spinocerebellar AtaxiaNCT02741440
Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
An observational study of Spinocerebellar Ataxia, run by National Eye Institute (NEI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 12 to 100 years
- Conditions the study is for
- Spinocerebellar Ataxia
- How many people
- 22 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Jul 2016to 31 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
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.
Read more
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.
Read the detailed description
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 at least 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 consult with speech pathology and/or other rehabilitation services, audiology, and neuropsychology.
To establish baseline, the participants will undergo two separate detailed eye examinations and a single neurology/neuroimaging examination within a one to two week period. Afterwards, they will return to the NEI clinic annually until the last-enrolled participant has completed a minimum of five study visits. Follow-up visits will consist of a single detailed eye exam, a single detailed neurology/neuroimaging exam, and follow-up with appropriate consultants. Participants may be seen at more frequent intervals at the investigators discretion, depending on the clinical and research situation. Participants will be required to submit a blood sample for research, and they will have the option to provide a skin biopsy to facilitate research at a cellular level.
Outcome Measures:
The primary outcome for this study is determination of the amplitude and time of photopic and scotopic responses on electroretinogram. Secondary outcomes include changes in visual acuity, microperimetry, peripheral visual field, color vision, macular thickness, and neurologic outcome variables. Exploratory outcomes for this study include: 1) the formulation of clinical outcome measures for future studies and 2) the acquisition and preliminary analysis of data that may advance our understanding of the progression of retinal and neurodegeneration associated with molecularly-confirmed SCA7. Cells from skin biopsies may be grown in the laboratory to better understand SCA7, including the evaluation of potential treatments.
- Conditions
- Spinocerebellar Ataxia
- Keywords
- Spinocerebellar Ataxia, Natural History
- Medical subject headings
- Spinocerebellar Ataxias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Affected Participants | Twenty-five (25) participants with molecularly-confirmed SCA7 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Amplitude and time of photopic and scotopic responses on electroretinogram
Determine the amplitude and time of photopic and scotopic responses on electroretinogram
Measured: 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
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
Measured: Baseline to years 1-5
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Apr 2016 (estimated)
- Study start11 Jul 2016
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinocerebellar AtaxiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 22 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Laryssa A Huryn, M.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02741440
- Sponsor's protocol ID
- 160090
- Other IDs
- 16-EI-0090
- Status last verified
- 11 Sep 2026
- First submitted
- 13 Apr 2016
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
- ClinicalTrials.gov ID
- NCT02741440
- Acronym / sponsor ID
- 160090
- Conditions
- Spinocerebellar Ataxia
- Keywords
- Spinocerebellar Ataxia, Natural History
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 22 participants (actual)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 11 Jul 2016 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 18 Apr 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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 at least 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 consult with speech pathology and/or other rehabilitation services, audiology, and neuropsychology.
To establish baseline, the participants will undergo two separate detailed eye examinations and a single neurology/neuroimaging examination within a one to two week period. Afterwards, they will return to the NEI clinic annually until the last-enrolled participant has completed a minimum of five study visits. Follow-up visits will consist of a single detailed eye exam, a single detailed neurology/neuroimaging exam, and follow-up with appropriate consultants. Participants may be seen at more frequent intervals at the investigators discretion, depending on the clinical and research situation. Participants will be required to submit a blood sample for research, and they will have the option to provide a skin biopsy to facilitate research at a cellular level.
Outcome Measures:
The primary outcome for this study is determination of the amplitude and time of photopic and scotopic responses on electroretinogram. Secondary outcomes include changes in visual acuity, microperimetry, peripheral visual field, color vision, macular thickness, and neurologic outcome variables. Exploratory outcomes for this study include: 1) the formulation of clinical outcome measures for future studies and 2) the acquisition and preliminary analysis of data that may advance our understanding of the progression of retinal and neurodegeneration associated with molecularly-confirmed SCA7. Cells from skin biopsies may be grown in the laboratory to better understand SCA7, including the evaluation of potential treatments.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Affected Participants | – | –Twenty-five (25) participants with molecularly-confirmed SCA7 |
Who may qualify
- Ages
- 12 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (8 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Amplitude and time of photopic and scotopic responses on electroretinogram
Time frame: Baseline to Years 1-5
Determine the amplitude and time of photopic and scotopic responses on electroretinogram
1 secondary outcome
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
Time frame: Baseline to years 1-5
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laryssa A Huryn, M.D. principal investigator
National Eye Institute (NEI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinocerebellar Ataxia, run by National Eye Institute (NEI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Amplitude and time of photopic and scotopic responses on electroretinogram (time frame: Baseline to Years 1-5). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.