Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)
3 other identifiers
observational
800
1 country
12
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?
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Apr 2010
Longer than P75 for all trials
12 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
January 29, 2010
CompletedFirst Posted
Study publicly available on registry
February 2, 2010
CompletedStudy Start
First participant enrolled
April 1, 2010
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 19, 2024
CompletedStudy Completion
Last participant's last visit for all outcomes
May 19, 2024
CompletedJune 1, 2023
May 1, 2023
14.1 years
January 29, 2010
May 30, 2023
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
The disease's progression over time using clinical rating scales and timed performance measures.
Indefinitely (for as long as the study is open and you wish to participate)
Relation between the genetic modifiers and the age at onset of disease and disease progression rates.
Indefinitely (for as long as the study is open and you wish to participate)
Secondary Outcomes (1)
The effects of the disease on the Activities of Daily Living (ADL)in patients with Spinocerebellar Ataxias
indefinitely
Study Arms (4)
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
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
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
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
Interventions
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.
Eligibility Criteria
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.
You may qualify if:
- 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
You may not qualify if:
- Known recessive, X-linked and mitochondrial ataxias
- A lack of willingness to participate in the study
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- University of Floridalead
- National Ataxia Foundationcollaborator
- University of California, Los Angelescollaborator
Study Sites (12)
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
Related Links
Biospecimen
Blood samples collection for DNA analysis and genetic modifier study
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
S. Subramony, MD
University of Florida
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 29, 2010
First Posted
February 2, 2010
Study Start
April 1, 2010
Primary Completion
May 19, 2024
Study Completion
May 19, 2024
Last Updated
June 1, 2023
Record last verified: 2023-05