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Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01060371
Recruitment Status : Recruiting
First Posted : February 2, 2010
Last Update Posted : May 5, 2022
Sponsor:
Collaborators:
National Ataxia Foundation
University of California, Los Angeles
Information provided by (Responsible Party):
University of Florida

Study Description
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Brief Summary:

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.


Condition or disease Intervention/treatment
Spinocerebellar Ataxia Type 1 Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia Type 3 Spinocerebellar Ataxia Type 6 Genetic: All Participants

Detailed Description:

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.

Study Design
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Study Type : Observational
Estimated Enrollment : 800 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)
Actual Study Start Date : April 2010
Estimated Primary Completion Date : May 2022
Estimated Study Completion Date : May 2022

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
Spinocerebellar Ataxia 1

If you decide to participate in this study, the following study procedures will be performed:

  • blood collection for DNA testing, analysis (genetic modifier study) and banking
  • Medical history
  • Physical exam
  • Scale for Assessment and Rating of Ataxia (SARA)
  • Timed measure of your hand dexterity and walking (25 ft)
  • Questionnaire about your daily living activities, your physical and mental quality of life and assessment of depression.
  • Disease stage estimation by the clinician.
  • Demographics and disease-related information (i.e. age, sex, race, age at disease onset, disease duration)
  • Review of your medical records
 Genetic: All Participants
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.
Spinocerebellar Ataxia 2

If you decide to participate in this study, the following study procedures will be performed:

  • blood collection for DNA testing, analysis (genetic modifier study) and banking
  • Medical history
  • Physical exam
  • Scale for Assessment and Rating of Ataxia (SARA)
  • Timed measure of your hand dexterity and walking (25 ft)
  • Questionnaire about your daily living activities, your physical and mental quality of life and assessment of depression.
  • Disease stage estimation by the clinician.
  • Demographics and disease-related information (i.e. age, sex, race, age at disease onset, disease duration)
  • Review of your medical records
 Genetic: All Participants
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.
Spinocerebellar Ataxia 3

If you decide to participate in this study, the following study procedures will be performed:

  • blood collection for DNA testing, analysis (genetic modifier study) and banking
  • Medical history
  • Physical exam
  • Scale for Assessment and Rating of Ataxia (SARA)
  • Timed measure of your hand dexterity and walking (25 ft)
  • Questionnaire about your daily living activities, your physical and mental quality of life and assessment of depression.
  • Disease stage estimation by the clinician.
  • Demographics and disease-related information (i.e. age, sex, race, age at disease onset, disease duration)
  • Review of your medical records
 Genetic: All Participants
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.
Spinocerebellar Ataxia 6

If you decide to participate in this study, the following study procedures will be performed:

  • blood collection for DNA testing, analysis (genetic modifier study) and banking
  • Medical history
  • Physical exam
  • Scale for Assessment and Rating of Ataxia (SARA)
  • Timed measure of your hand dexterity and walking (25 ft)
  • Questionnaire about your daily living activities, your physical and mental quality of life and assessment of depression.
  • Disease stage estimation by the clinician.
  • Demographics and disease-related information (i.e. age, sex, race, age at disease onset, disease duration)
  • Review of your medical records
 Genetic: All Participants
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.


Outcome Measures
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Primary Outcome Measures :
  1. The disease's progression over time using clinical rating scales and timed performance measures. [ Time Frame: Indefinitely (for as long as the study is open and you wish to participate) ]
  2. Relation between the genetic modifiers and the age at onset of disease and disease progression rates. [ Time Frame: Indefinitely (for as long as the study is open and you wish to participate) ]

Secondary Outcome Measures :
  1. The effects of the disease on the Activities of Daily Living (ADL)in patients with Spinocerebellar Ataxias [ Time Frame: indefinitely ]

Biospecimen Retention:   Samples With DNA
Blood samples collection for DNA analysis and genetic modifier study

Eligibility Criteria
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Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

The Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) is seeking subjects to participate in a clinical research study of patients with SCA 1, 2 3 and 6.

Potential participants should have symptoms of ataxia with a diagnosis of SCA 1,2,3 or 6 established by DNA tests either on the patient himself or herself or another affected family member and be between 6 and 80 years of age. In addition, patients who have ataxia with a dominant inheritance pattern but who do not yet know what type of SCA they have can also be screened for this project.

Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01060371


Locations
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United States, California
University of California Los Angeles Recruiting
Los Angeles, California, United States, 90095
Contact: Brian Clemente    310-206-8153    bclemente@mednet.ucla.edu   
Principal Investigator: Susan Perlman, M.D.         
University of California San Francisco Recruiting
San Francisco, California, United States, 94115
Contact: Julia Glueck    415-502-7640    julia.glueck@ucsf.edu   
Principal Investigator: Michael Geschwind, MD         
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32610
Contact: SH Subramony, MD    352-273-5550    s.subramony@neurology.ufl.edu   
Principal Investigator: S H Subramony, MD         
University of South Florida Active, not recruiting
Tampa, Florida, United States, 33620
United States, Georgia
Emory University Recruiting
Atlanta, Georgia, United States, 30320
Contact: Rebecca MacMurray    404-728-4909    rebecca.s.mcmurray@emory.edu   
Principal Investigator: George Wilmot, M.D., PhD.         
United States, Illinois
University of Chicago Active, not recruiting
Chicago, Illinois, United States, 60637
United States, Maryland
John Hopkins University Recruiting
Baltimore, Maryland, United States, 21287
Contact: Ann Fishman    410-502-5816    ataxiaresearch@jhu.edu   
Principal Investigator: Chiadi Onyike, M.D., MHS         
United States, Massachusetts
Harvard University Recruiting
Boston, Massachusetts, United States, 02114
Contact: Jason MacMore    617-726-3216    jmacmore@partners.org   
Principal Investigator: Jeremy Schmahmann, M.D.         
United States, Michigan
University of Michigan Active, not recruiting
Ann Arbor, Michigan, United States, 48109
United States, Minnesota
University of Minnesota Active, not recruiting
Minneapolis, Minnesota, United States, 55455
United States, New York
Columbia University Recruiting
New York, New York, United States, 10032
Contact: Sheng-Han Kuo, MD    212-305-5558    sk3295@mail.cumc.colombia.edu   
Principal Investigator: Pietro Mazzoni, M.D., PhD.         
Sub-Investigator: Sheng-Han Kuo, M.D.         
United States, Utah
University of Utah Active, not recruiting
Salt Lake City, Utah, United States, 84112
Sponsors and Collaborators
University of Florida
National Ataxia Foundation
University of California, Los Angeles
Investigators
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Principal Investigator: S. Subramony, MD University of Florida
More Information
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Additional Information:

Layout table for additonal information
Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT01060371    
Obsolete Identifiers: NCT01223417
Other Study ID Numbers: IRB201700740
505-2009 ( Other Identifier: Legacy study )
OCR16458 ( Other Identifier: Universiy of Florida )
First Posted: February 2, 2010    Key Record Dates
Last Update Posted: May 5, 2022
Last Verified: May 2022
Keywords provided by University of Florida:
Spinocerebellar Ataxia
Natural History
Genetic Modifiers
DNA testing
Additional relevant MeSH terms:
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Ataxia
Cerebellar Ataxia
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Machado-Joseph Disease
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
 Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn