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

Status: Unknown
Location: See all (12) locations...
Intervention Type: Genetic
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 6
Healthy Volunteers: f
View:

• 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

Locations
United States
California
University of California Los Angeles
RECRUITING
Los Angeles
University of California San Francisco
RECRUITING
San Francisco
Florida
University of Florida
RECRUITING
Gainesville
University of South Florida
ACTIVE_NOT_RECRUITING
Tampa
Georgia
Emory University
RECRUITING
Atlanta
Illinois
University of Chicago
ACTIVE_NOT_RECRUITING
Chicago
Massachusetts
Harvard University
RECRUITING
Boston
Maryland
John Hopkins University
RECRUITING
Baltimore
Michigan
University of Michigan
ACTIVE_NOT_RECRUITING
Ann Arbor
Minnesota
University of Minnesota
ACTIVE_NOT_RECRUITING
Minneapolis
New York
Columbia University
RECRUITING
New York
Utah
University of Utah
ACTIVE_NOT_RECRUITING
Salt Lake City
Time Frame
Start Date: 2010-04
Completion Date: 2024-05-19
Participants
Target number of participants: 800
Treatments
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
Sponsors
Leads: University of Florida
Collaborators: University of California, Los Angeles, National Ataxia Foundation

This content was sourced from clinicaltrials.gov