Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Public ClinicalTrials.gov record NCT01060371. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Clinical Research Consortium for the Study of Cerebellar Ataxias (CRC-SCA) for the Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCAs and this study will focus on types 1, 2, 3, 6, 7, 8, 10, 27B, and RFC1-ataxia (SCA 1, SCA 2, SCA 3, also known as Machado-Joseph disease, SCA 6, SCA 7, SCA 8, SCA 10, SCA27B, and RFC1-ataxia, also known as CANVAS). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties, and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease. The research questions are: 1. How do these diseases progress over time? 2. What are the best ways to measure the progression? 3. Do some genes, other than the gene that is abnormal in these diseases, have any effect on the way the disease behaves? This is a nationwide study and the investigators expect that 1400 patients will participate all over North America. The participants will remain in the study for an indeterminate period of time, for as long as they are willing to participate. Study visits will be done every 12 months. Within the broader CRC-SCA, there is an Imaging Sub-study aiming to identify magnetic resonance imaging (MRI) markers sensitive to the onset and progression of common SCAs. To accomplish this, participants attend annual visits involving a neurological exam, surveys, a blood draw, and an MRI scan. Participants can attend visits at one of three US locations - Minneapolis, MN; Gainesville, FL; or Dallas, TX and two European locations - Paris, France and Bonn, Germany. Eligible participants must either have SCA1, 2, or 3 or have been a participant of the previous READISCA study (NCT03487367). Gene-positive participants must have a SARA score less than 10; however, there is no SARA limit for participants previously enrolled in READISCA. All participants must be 18 years or older. Gene-negative participants should be 25-65 years old.
Study identification
- NCT ID
- NCT01060371
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 1,400 participants
Conditions and interventions
Conditions
Interventions
- Genetic Testing Genetic
- Blood Collection Other
- Magnetic Resonance Imaging (MRI) Scan Other
- Assessments and Questionnaires Other
- Cerebrospinal Fluid Collection Other
Genetic · Other
Eligibility (public fields only)
- Age range
- 6 Years and older
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Mar 31, 2010
- Primary completion
- Nov 30, 2030
- Completion
- Nov 30, 2030
- Last update posted
- Aug 2, 2026
2010 – 2030
United States locations
- U.S. sites
- 16
- U.S. states
- 12
- U.S. cities
- 15
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| University of California Los Angeles | Los Angeles | California | 90095 | Recruiting |
| University of California San Francisco | San Francisco | California | 94115 | Recruiting |
| University of Florida | Gainesville | Florida | 32610 | Recruiting |
| University of South Florida | Tampa | Florida | 33620 | Recruiting |
| Emory University | Atlanta | Georgia | 30320 | Recruiting |
| Nortwestern University | Chicago | Illinois | 60611 | Recruiting |
| University of Chicago | Chicago | Illinois | 60637 | Withdrawn |
| John Hopkins University | Baltimore | Maryland | 21287 | Recruiting |
| Harvard University | Boston | Massachusetts | 02114 | Recruiting |
| University of Michigan | Ann Arbor | Michigan | 48109 | Recruiting |
| University of Minnesota | Minneapolis | Minnesota | 55455 | Active, not recruiting |
| Columbia University | New York | New York | 10032 | Recruiting |
| University of Pennsylvania | Philadelphia | Pennsylvania | 19107 | Recruiting |
| University of Texas Southwestern Medical Center | Dallas | Texas | 75390 | Recruiting |
| Houston Methodist | Houston | Texas | 77030 | Recruiting |
| University of Washington | Seattle | Washington | 98195 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
Non-U.S. locations
This page focuses on the U.S. directory. The official record also lists 1 non-U.S. site.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01060371, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Aug 2, 2026 · Synced Sep 6, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01060371 live on ClinicalTrials.gov.