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Can we predict how genetic ataxias progress?

NCT ID NCT01060371

Knowledge-focused Sponsor: Lauren Moore Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Aug 03, 2026 · Last updated Aug 04, 2026 · Updated 1 time

Summary

This study follows people with several types of spinocerebellar ataxia (SCA) — rare genetic diseases that cause balance, coordination, and speech problems — to learn how these conditions change over time. Researchers will collect blood samples, perform neurological exams, and use MRI scans to find the best ways to measure disease progression. They will also look at whether other genes influence how the disease behaves. The goal is to better understand these diseases and improve tools for future clinical trials.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
Observational study with genetic testing, blood collection, MRI scans, and assessments
What this could lead to
If successful, this could lead to better ways to measure disease progression and identify genetic factors that influence how these ataxias develop, aiding future treatment trials.
What could go wrong
This is an observational study, so it won't test a treatment. Results may take years and might not directly lead to new therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,400 people

The number the study aims to enrol. It can still change while the study runs.

Started

Apr 2010

Expected to finish

Dec 2030

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Participants will be recruited broadly across the United States and Canada through various means, including outpatient clinics, word-of-mouth referrals, and announcements/emails via the National Ataxia Foundation. Participants must complete annual research visits at one of the 16 designated CRC-SCA research sites with the corresponding study site Principal Investigator or Sub-Investigator. For MRI Sub-study only: Select participants may be recruited in Paris, France and in Bonn, Germany to participate locally in Europe in the MRI Sub-study with the corresponding study Investigators and teams.

Ages

6 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

Machado-Joseph disease spinocerebellar ataxia 27B, late-onset spinocerebellar ataxia 7 Spinocerebellar ataxia 8 spinocerebellar ataxia type 1 spinocerebellar ataxia type 10 spinocerebellar ataxia type 2 spinocerebellar ataxia type 27 spinocerebellar ataxia type 6 spinocerebellar ataxia type 8 Spinocerebellar Ataxias

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Healthy participants RFC1 gene mutation Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 27B Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 8

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    15 sites in 2 countries. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Columbia University

    RECRUITING

    New York, New York, 10032, United States

  • Emory University

    RECRUITING

    Atlanta, Georgia, 30320, United States

  • Harvard University

    RECRUITING

    Boston, Massachusetts, 02114, United States

  • Houston Methodist

    RECRUITING

    Houston, Texas, 77030, United States

  • John Hopkins University

    RECRUITING

    Baltimore, Maryland, 21287, United States

    Contact Email: •••••@•••••

  • Le Centre hospitalier de l'Université de Montréal

    RECRUITING

    Montreal, Quebec, 30153, Canada

  • Nortwestern University

    RECRUITING

    Chicago, Illinois, 60611, United States

  • University of California Los Angeles

    RECRUITING

    Los Angeles, California, 90095, United States

  • University of California San Francisco

    RECRUITING

    San Francisco, California, 94115, United States

  • University of Chicago

    WITHDRAWN

    Chicago, Illinois, 60637, United States

  • University of Florida

    RECRUITING

    Gainesville, Florida, 32610, United States

  • University of Michigan

    RECRUITING

    Ann Arbor, Michigan, 48109, United States

  • University of Minnesota

    ACTIVE_NOT_RECRUITING

    Minneapolis, Minnesota, 55455, United States

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19107, United States

  • University of South Florida

    RECRUITING

    Tampa, Florida, 33620, United States

  • University of Texas Southwestern Medical Center

    RECRUITING

    Dallas, Texas, 75390, United States

  • University of Washington

    RECRUITING

    Seattle, Washington, 98195, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.