NCT01060371 · Lauren Moore
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
What this study is about
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).
View original scientific description
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.
Interventions
GENETIC
Genetic Testing
About two teaspoons (10 milliliters) of blood will be collected during the first/screening visit to determine SCA type.
OTHER
Blood Collection
Up to 50 milliliters of total blood (whole blood, plasma, serum) may be collected at each visit to measure markers of neurological disease.
OTHER
Magnetic Resonance Imaging (MRI) Scan
Participants in the sub-study will undergo an MRI scan of head and spine lasting up to 90 minutes at 3 Tesla strength.
OTHER
Assessments and Questionnaires
Participants will complete various motor function and cognitive assessments and self-report questionnaires.
OTHER
Cerebrospinal Fluid Collection
(Optional) About 1 1/2 tablespoon (25ml) of CSF collected in adults.
Primary outcome measures
Scale for the Assessment and Rating of Ataxia (SARA)
Time frame: At baseline and then at 12 month intervals for Follow-Up Visit
The Scale for the Assessment and Rating of Ataxia (SARA) is an 8-item assessment measuring ataxia severity. Total scores are calculated as a sum of item scores and range 0-40, with higher scores indicating greater ataxia severity.
Patient-Reported Outcome Measure of Ataxia (PROM-ataxia)
Time frame: At baseline and then at 12 month intervals for Follow-Up Visit
The Patient-Reported Outcome Measure of Ataxia (PROM-ataxia) is a 70-item questionnaire assessing the impact of ataxia on an individual's daily life. Items are rated 0-4, where 0 indicates no difficulty/symptoms and 4 indicates severe difficulty/symptoms. Total scores are a sum of item scores and range 0 to 280 with higher scores indicating greater impact of ataxia symptoms on daily life.
Pons Volume
Time frame: At baseline and then at a 12 month follow-up Visit
Pons volume will be measured using MRI and divided by normalized intracranial volume. This measure is a unitless ratio.
Timed 25-Foot Walk (T25-FW)
Time frame: At baseline and then at 12 month intervals for Follow-Up Visit
The Timed 25-Foot Walk (T25-FW) measures how fast participants can complete a 25-foot walk in seconds. The final score is an average of 2 trials. A higher scores indicates slower walking and greater gait impairment.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- Affected individuals aged 6 or above with symptoms and/or signs of ataxia with genetic confirmation of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia either in themselves or first degree family member.
- Any individual aged 18 or above with a definite molecular diagnosis of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia.
- Former participants of the READISCA (NCT03487367) study.
- Willingness to participate in the study and ability to give informed consent
- For MRI Sub-Study only: Previous READISCA enrollees; individuals aged 18 or above with a genetic confirmation of SCA1, 2, or 3 and a SARA score \<10 at MRI pre-screening; Healthy control participants without neurological condition.
Exclusion criteria
- A lack of willingness to participate in the study
- For MRI Sub-study only: Inability to undergo MRI scanning, pregnancy, and other neurological diseases than those of interest.
Where
- Los Angeles, California
- San Francisco, California
- Gainesville, Florida
- Tampa, Florida
- Atlanta, Georgia
- Chicago, Illinois
- Baltimore, Maryland
- Boston, Massachusetts
- Ann Arbor, Michigan
- Minneapolis, Minnesota
- New York, New York
- Philadelphia, Pennsylvania
And 3 more locations — see the full list below.
Collaborators
University of California, Los Angeles, University of South Florida, National Ataxia Foundation, Columbia University, Johns Hopkins University, University of Texas Southwestern Medical Center, The Methodist Hospital Research Institute, University of California, San Francisco, University of Florida, Emory University, University of Chicago, Northwestern University, University of Michigan, University of Minnesota, Massachusetts General Hospital, Centre hospitalier de l'Université de Montréal (CHUM), University of Pennsylvania, University of Washington
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Aug 3, 2026 · Source of record for eligibility and locations