RECRUITING

Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)

Quick Facts

Study Start:2010-04
Study Completion:2024-05-19
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01060371

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:6 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Presence of symptomatic ataxic disease
  2. * Definite molecular diagnosis of SCA 1, 2,3,or 6 either in the subject or another affected family member
  3. * Willingness to participate in the study and ability to give informed consent.
  4. * Age 6 years and above
  1. * Known recessive, X-linked and mitochondrial ataxias
  2. * Exclusion of SCA 1, 2, 3 and 6 by previous DNA testing,
  3. * A lack of willingness to participate in the study

Contacts and Locations

Principal Investigator

S. Subramony, MD
PRINCIPAL_INVESTIGATOR
University of Florida

Study Locations (Sites)

University of California Los Angeles
Los Angeles, California, 90095
United States
University of California San Francisco
San Francisco, California, 94115
United States
University of Florida
Gainesville, Florida, 32610
United States
University of South Florida
Tampa, Florida, 33620
United States
Emory University
Atlanta, Georgia, 30320
United States
University of Chicago
Chicago, Illinois, 60637
United States
John Hopkins University
Baltimore, Maryland, 21287
United States
Harvard University
Boston, Massachusetts, 02114
United States
University of Michigan
Ann Arbor, Michigan, 48109
United States
University of Minnesota
Minneapolis, Minnesota, 55455
United States
Columbia University
New York, New York, 10032
United States
University of Utah
Salt Lake City, Utah, 84112
United States

Collaborators and Investigators

Sponsor: University of Florida

  • S. Subramony, MD, PRINCIPAL_INVESTIGATOR, University of Florida

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2010-04
Study Completion Date2024-05-19

Study Record Updates

Study Start Date2010-04
Study Completion Date2024-05-19

Terms related to this study

Keywords Provided by Researchers

  • Spinocerebellar Ataxia
  • Natural History
  • Genetic Modifiers
  • DNA testing

Additional Relevant MeSH Terms

  • Spinocerebellar Ataxia Type 1
  • Spinocerebellar Ataxia Type 2
  • Spinocerebellar Ataxia Type 3
  • Spinocerebellar Ataxia Type 6