ClinicalTrials.gov record NCT01060371

Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Clinical Research Consortium for the Study of Cerebellar Ataxias (CRC-SCA) for the Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age6 years old and older
SexAll
LocationCanada, United States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational study follows people with various spinocerebellar ataxias and healthy controls to learn how these diseases progress and to study genetic factors that may modify disease course. Participants attend annual visits for neurological exams, motor and cognitive assessments, questionnaires, and blood collection; cerebrospinal fluid (CSF) collection is optional for adult participants with SCA. A separate MRI sub-study enrolls people for brain and spine MRI at yearly visits. Samples may be stored in a central repository for future research.

What it is studying. The study is trying to learn how different spinocerebellar ataxias progress over time, which clinical measures best track that progression, and whether genes other than the primary disease gene affect how the disease behaves. The MRI sub-study aims to find MRI measures that are sensitive to disease onset and change.

What the researchers hope to learn. To define how various SCAs change over time; to identify the best clinical and imaging measures of progression; to study genetic modifiers that influence disease course; and to build a sample repository for future biomarker and genetic research.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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:

  • How do these diseases progress over time?
  • What are the best ways to measure the progression?
  • 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 being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Genetic
  • Genetic Testing
Other
  • Blood Collection
  • Magnetic Resonance Imaging (MRI) Scan
  • Assessments and Questionnaires
  • Cerebrospinal Fluid Collection

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

  • Exclusion of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia by previous DNA testing.
  • 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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

Study participants will have 2 teaspoons (10 milliliters) of blood collected during the first/screening visit in order to extract DNA. The sample will be sent to the University of Chicago Genetics Laboratory for the study of genetic factors that modify the course of the disease. Participants will be asked to return for visits on an annual basis. As part of this study, whole blood samples will be collected from participants at each visit and deposited into a tissue repository called BioSEND (NINDS biomarker repository housed at Indiana University). Sample submissions to the repository may give scientists valuable research material that can help develop new diagnostic tests, new treatments, and new ways to prevent diseases. Scientists will not use participant samples, or material isolated from it, for commercial products or services. CSF collection is an optional part of this study for SCA participants aged 18 years or older. If a participant declines the CSF collection, the participant will be allowed to continue with participation in the remainder of the study. Participant samples will not have the participant's name or other personal information linked to it. Samples may be shared with researchers at other institutions. The only information the researchers will keep with the sample is participant age, disease type, the age at onset of disease, and the duration of the disease. The principal investigator at a participant's study site will be the only person who can link the sample to a participant. Participants can have their samples removed from the bank later by written request to their principal investigator. At each annual visit, study participants will also be asked to complete several assessments that include questionnaires, motor function tests, a cognitive assessment, a neurological exam, and an MRI scan if enrolled in the MRI Sub-study.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants attend annual research visits (baseline and then every 12 months) that include a neurological exam, motor and cognitive tests, and self-report questionnaires. At the first visit about 2 teaspoons (10 mL) of blood are taken for genetic testing; at each visit up to 50 mL of blood may be collected and deposited into a research repository (BioSEND); DNA from the screening sample is sent to the University of Chicago Genetics Laboratory. Some people (selected for the MRI Sub-study) will also have brain and spine MRI scans lasting up to 90 minutes. For adult participants with SCA, collection of cerebrospinal fluid (about 25 mL, by spinal tap) is optional; declining the spinal tap does not prevent participation in the rest of the study. Samples are kept without names or personal identifiers and may be shared with researchers; only age, disease type, age at onset, and disease duration are kept with samples, and participants can request removal of their samples in writing to their site principal investigator.

How the study is structured. This is a prospective observational cohort study with annual study visits. At visits participants have a neurological exam, motor and cognitive tests, self-report questionnaires, and blood draws; adults may optionally provide cerebrospinal fluid. Some participants (including healthy controls) take part in an MRI sub-study with head and spine MRI. Genetic testing is done from initial blood, and blood samples are deposited in a research repository (BioSEND) for future analyses. Participants may remain in the study for as long as they choose and return yearly.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Canada, United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on spinocerebellar ataxia

Clinical trials30 trials listed for spinocerebellar ataxiaEvery trial the registry lists for spinocerebellar ataxia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in spinocerebellar ataxia researchLatest monthly update: September 2026. Includes: NBP trial result. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
April 2010
Primary completion
December 2030 (estimated)
Study completion
December 2030 (estimated)
Target enrollment
1400 participants (estimated)
Last updated on registry
Aug 3, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Lauren Moore
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

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (17)

Terms used on this page · explanations by MedicalUpdates.ai

magnetic resonance imaging
A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
screening visit
The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
biomarker
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
principal investigator
The doctor or scientist responsible for running the study at a site or overall.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this website; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials