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Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

  • Status
    Accepting Candidates
  • Age
    6 Years - N/A
  • Sexes
  • Healthy Volunteers


Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as Machado-Joseph disease and SCA 6). 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 does your disease 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 your disease, have any effect on the way the disease behaves?

This is a nationwide study and we expect that 800 patients will participate all over the USA. The participants will be in the study for an indeterminate period of time. Study visits will be done every 6 or 12 months depending on the participating site.


If you decide to participate in this study, we will collect 1 tablespoon (15 milliliters) of blood during the first/screening visit in order to extract your DNA. The sample will be sent to the research laboratory of Dr Stefan Pulst at the University of Utah for the study of genetic factors that modify the course of your disease.

As part of this study, we would like to put some of your blood in a tissue repository. Submission of your sample to the repository may give scientists valuable research material that can help them to develop new diagnostic tests, new treatments, and new ways to prevent diseases. Scientists will not use your sample, or material isolated from it, for commercial products or services. Your blood will be kept by Dr. Stefan Pulst.

Your sample will not have your name or other personal information linked to it. Your sample may be shared with researchers at the University of Utah and at other institutions. The only information we will keep with the sample is your age, what disease you have, the age at onset of your disease and the duration of the disease. The principal investigator at your site will be the only person who can link the sample to you. You can have your sample removed from the bank later by written request to your PI.

You do not have to participate in the genetic modifier study or the tissue repository to be in the remaining part of this study.

You will also be asked to complete several assessments that include questionnaires, motor function test, a neurological exam and a physical exam.


Full study title Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)
Protocol number OCR16458 ID NCT01060371


Inclusion Criteria:

  • Presence of symptomatic ataxic disease

  • Definite molecular diagnosis of SCA 1, 2,3,or 6 either in the subject or another affected family member

  • Willingness to participate in the study and ability to give informed consent.

  • Age 6 years and above

Exclusion Criteria:

  • Known recessive, X-linked and mitochondrial ataxias

  • Exclusion of SCA 1, 2, 3 and 6 by previous DNA testing,

  • A lack of willingness to participate in the study

Lead researcher

  • Neuromuscular Medicine Specialist
    Languages: Hindi, Malayalam, Tamil

Participate in a study

Here are some general steps to consider when participating in a research study:

  1. Step

    Contact the research team

    Call or email the research team listed within the specific clinical trial or study to let them know that you're interested. A member of the research team, such as the researcher or study coordinator, will be available to tell you more about the study and to answer any questions or concerns you may have.

    Primary contact

    Sankarasubramoney Subramony
  2. Step

    Get screened to confirm eligibility

    You may be asked to take part in prescreening to make sure you are eligible for a study. The prescreening process ensures it is safe for you to participate. During the prescreening process, you will be asked some questions and you may also be asked to schedule tests or procedures to confirm your eligibility.

  3. Step

    Provide your consent to participate

    If you are eligible and want to join the clinical trial or study, a member of the research team will ask for your consent to participate. To give consent, you will be asked to read and sign a consent form for the study. This consent form explains the study's purpose, procedures, risks, benefits and provides other important information, such as the study team's contact information.

  4. Step


    If you decide to participate in a clinical trial or study, the research team will keep you informed of the study requirements and what you will need to do to throughout the study. For some trials or studies, your health care provider may work with the research team to ensure there are no conflicts with other medications or treatments.