Recruiting

Observational StudyNatural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Sponsor:

Lauren Moore

Code:

NCT01060371

Conditions

Spinocerebellar Ataxia Type 1

Spinocerebellar Ataxia Type 2

Spinocerebellar Ataxia Type 3

Spinocerebellar Ataxia Type 6

Spinocerebellar Ataxia Type 7

Eligibility Criteria

Sex: All

Age: 6+

Healthy Volunteers: Accepted

Interventions

Genetic Testing

Blood Collection

Magnetic Resonance Imaging (MRI) Scan

Assessments and Questionnaires

Cerebrospinal Fluid Collection

Study Details

Brief summary:

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.

Conditions

Spinocerebellar Ataxia Type 1

Spinocerebellar Ataxia Type 2

Spinocerebellar Ataxia Type 3

Spinocerebellar Ataxia Type 6

Spinocerebellar Ataxia Type 7

Study ID

NCT01060371

Start date

Apr, 2010

Status verified date

Jul, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Sex: All

Age: 6+

Healthy Volunteers: Accepted

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 Design

Enrollment

1400 participants

Anticipated

Interventions and Outcome Measures

Arms

Participants with Spinocerebellar Ataxias (Main Study)

Individuals aged 6 or older with the spinocerebellar ataxias 1, 2, 3, 6, 7, 8, 10, 27b, or RFC1-Ataxia will be enrolled for genetic testing, blood collection, assessments, and questionnaires.

Participants with Spinocerebellar Ataxias (MRI Sub-study)

Adults with the spinocerebellar ataxias 1, 2, and 3 will be enrolled for genetic testing, blood collection, assessments, questionnaires, and magnetic resonance imaging (MRI).

Healthy Controls (MRI Sub-study)

Adults without spinocerebellar ataxias or other neurological conditions will be enrolled for genetic testing, blood collection, assessments, questionnaires, and magnetic resonance imaging (MRI).

Interventions

Genetic Testing

About two teaspoons (10 milliliters) of blood will be collected during the first/screening visit to determine SCA type.

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.

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.

Assessments and Questionnaires

Participants will complete various motor function and cognitive assessments and self-report questionnaires.

Cerebrospinal Fluid Collection

(Optional) About 1 1/2 tablespoon (25ml) of CSF collected in adults.

Primary outcome measure

Scale for the Assessment and Rating of Ataxia (SARA) [ Time Frame: At baseline and then at 12 month intervals for Follow-Up Visit ]
Patient-Reported Outcome Measure of Ataxia (PROM-ataxia) [ Time Frame: At baseline and then at 12 month intervals for Follow-Up Visit ]
Pons Volume [ Time Frame: At baseline and then at a 12 month follow-up Visit ]
Timed 25-Foot Walk (T25-FW) [ Time Frame: At baseline and then at 12 month intervals for Follow-Up Visit ]

Central Contacts and Locations

Central contacts

Laura P Crespo

763-553-0085 laura@ataxia.org

Locations

University of California Los Angeles

Recruiting

Los Angeles, California, United States, 90095

Contacts

Westley Ulit

310-206-8153 wulit@mednet.ucla.edu

Principal Investigator:

Susan Perlman, M.D.

University of California San Francisco

Recruiting

San Francisco, California, United States, 94115

Contacts

Zach Lamson

415-502-0670 zach.lamson@ucsf.edu

Principal Investigator:

Michael Geschwind, MD

University of Florida

Recruiting

Gainesville, Florida, United States, 32610

Contacts

Amanda Fessenden

352-733-2431 amanda.fessenden@neurology.ufl.edu

Principal Investigator:

S H Subramony, MD

University of South Florida

Recruiting

Tampa, Florida, United States, 33620

Contacts

Lucretia Campbell

813-974-5633 lcampbel@usf.edu

Principal Investigator:

Theresa Zesiewicz, M.D.

Emory University

Recruiting

Atlanta, Georgia, United States, 30320

Contacts

Lorena Bingham

404-728-4909 lorena.antonieta.bingham@emory.edu

Principal Investigator:

George Wilmot, MD, PhD

Nortwestern University

Recruiting

Chicago, Illinois, United States, 60611

Contacts

Karen Williams

312-503-5645 k-williams8@northwestern.edu

Principal Investigator:

Puneet Opal, MD

John Hopkins University

Recruiting

Baltimore, Maryland, United States, 21287

Contacts

Vanessa Nesspor

410-616-2815 ataxiaresearch@jhu.edu

Principal Investigator:

Chiadi Onyike, MD, MHS

Harvard University

Recruiting

Boston, Massachusetts, United States, 02114

Contacts

Jason MacMore

617-726-3216 jmacmore@partners.org

Principal Investigator:

Jeremy Schmahmann, M.D.

University of Michigan

Recruiting

Ann Arbor, Michigan, United States, 48109

Contacts

Frank Ferrari

734-232-6247 frankfer@med.umich.edu

Principal Investigator:

Henry Paulson, M.D., PhD.

Columbia University

Recruiting

New York, New York, United States, 10032

Contacts

Nadia Amokrane

212-305-5558 na2855@cumc.columbia.edu

Principal Investigator:

Sheng-Han Kuo, M.D.

University of Pennsylvania

Recruiting

Philadelphia, Pennsylvania, United States, 19107

Contacts

Anne Beckett-Fedarko

215-829-7775 anne.beckett-fedarko@pennmedicine.upenn.edu

Principal Investigator:

Ali Hamedani, MD

University of Texas Southwestern Medical Center

Recruiting

Dallas, Texas, United States, 75390

Contacts

Sharon Primeaux

214-645-0671 Sharon.Primeaux@UTSouthwestern.edu

Principal Investigator:

Vikram Shakkottai, MD, PhD

Houston Methodist

Recruiting

Houston, Texas, United States, 77030

Contacts

Noor Albukhaleefah

346-356-3638 nalbukhaleefah@houstonmethodist.org

Principal Investigator:

Andrew Billnitzer, MD

University of Washington

Recruiting

Seattle, Washington, United States, 98195

Contacts

Sarah Simon

ssimon3@uw.edu

Principal Investigator:

Marie Davis, MD

Le Centre hospitalier de l'Université de Montréal

Recruiting

Montreal, Quebec, Canada, 30153

Contacts

Martine Comeau

514-890-8000 martine.comeau.chum@ssss.gouv.qc.ca

Principal Investigator:

Antoine Duquette, MD

More Information

Sponsor

Lauren Moore

Last update posted

Aug 3, 2026

Last verified

Jul, 2026

Keywords

Spinocerebellar Ataxia
Natural History
Genetic Modifiers
Biomarkers

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Lauren Moore on 2026-08-03.