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Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Lauren Moore · with University of California, Los Angeles, University of South Florida · NCT01060371

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 6+ · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
1400
US sites recruiting
14
Study start
April 2010
Record last updated
August 3, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the 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). 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.

Being studied: Genetic Testing; Blood Collection; Magnetic Resonance Imaging (MRI) Scan; Assessments and Questionnaires; Cerebrospinal Fluid Collection

Conditions: Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 6; Spinocerebellar Ataxia Type 7; Spinocerebellar Ataxia Type 8; Spinocerebellar Ataxia Type 10; RFC1 Gene Mutation; Spinocerebellar Ataxia Type 27b; Healthy Participants

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

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.

Recruiting US locations

  • University of California Los Angeles

    Los Angeles, CA 90095

    Site contact: Westley Ulit · 310-206-8153 · wulit@mednet.ucla.edu

  • University of California San Francisco

    San Francisco, CA 94115

    Site contact: Zach Lamson · 415-502-0670 · zach.lamson@ucsf.edu

  • University of Florida

    Gainesville, FL 32610

    Site contact: Amanda Fessenden · 352-733-2431 · amanda.fessenden@neurology.ufl.edu

  • University of South Florida

    Tampa, FL 33620

    Site contact: Lucretia Campbell · 813-974-5633 · lcampbel@usf.edu

  • Emory University

    Atlanta, GA 30320

    Site contact: Lorena Bingham · 404-728-4909 · lorena.antonieta.bingham@emory.edu

  • Nortwestern University

    Chicago, IL 60611

    Site contact: Karen Williams · 312-503-5645 · k-williams8@northwestern.edu

  • John Hopkins University

    Baltimore, MD 21287

    Site contact: Vanessa Nesspor · 410-616-2815 · ataxiaresearch@jhu.edu

  • Harvard University

    Boston, MA 02114

    Site contact: Jason MacMore · 617-726-3216 · jmacmore@partners.org

  • University of Michigan

    Ann Arbor, MI 48109

    Site contact: Frank Ferrari · 734-232-6247 · frankfer@med.umich.edu

  • Columbia University

    New York, NY 10032

    Site contact: Nadia Amokrane · 212-305-5558 · na2855@cumc.columbia.edu

  • University of Pennsylvania

    Philadelphia, PA 19107

    Site contact: Anne Beckett-Fedarko · 215-829-7775 · anne.beckett-fedarko@pennmedicine.upenn.edu

  • University of Texas Southwestern Medical Center

    Dallas, TX 75390

    Site contact: Sharon Primeaux · 214-645-0671 · Sharon.Primeaux@UTSouthwestern.edu

  • Houston Methodist

    Houston, TX 77030

    Site contact: Noor Albukhaleefah · 346-356-3638 · nalbukhaleefah@houstonmethodist.org

  • University of Washington

    Seattle, WA 98195

    Site contact: Sarah Simon · ssimon3@uw.edu

Study contacts (from the official record)

  • Laura P Crespo · 763-553-0085 · laura@ataxia.org
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