Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
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:
- How does your disease progress over time?
- What are the best ways to measure the progression?
- 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 2 years and have a total of 4 study related visits done every 6 months.
Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 3
Spinocerebellar Ataxia Type 6
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias|
- The disease's progression over time using clinical rating scales and timed performance measures. [ Time Frame: 2 years ] [ Designated as safety issue: No ]
- Relation between the genetic modifiers and the age at onset of disease and disease progression rates. [ Time Frame: 2 years ] [ Designated as safety issue: No ]
- The effects of the disease on the Activities of Daily Living (ADL)in patients with Spinocerebellar Ataxias [ Time Frame: 2 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
Blood samples collection for DNA analysis and genetic modifier study
|Study Start Date:||April 2010|
|Estimated Study Completion Date:||January 2018|
|Estimated Primary Completion Date:||January 2015 (Final data collection date for primary outcome measure)|
|Spinocerebellar Ataxia 1|
|Spinocerebellar Ataxia 2|
|Spinocerebellar Ataxia 3|
|Spinocerebellar Ataxia 6|
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.
We will also ask twenty study participants who have the ability to walk to wear a small electronic monitor in the form of a light, non-painful ankle bracelet that will record information about your walking at home. The monitor is attached by Velcro and can be worn 24 hours a day, even in the shower. If you are one of the twenty people who will wear this device, known as a Step Activity Monitor (SAM), you will have the bracelet placed on your ankle during each visit. You will wear it continuously for the next eight days following the visit. You will be provided a self-addressed, pre-paid envelope in which to mail the monitor back so that we can collect that information.
You will also be asked to complete several assessments that include questionnaires, motor function test, a neurological exam and a physical exam.
|United States, California|
|University of California Los Angeles||Recruiting|
|Los Angeles, California, United States, 90095|
|Contact: Maria Casado 310-206-8153 MCasado@mednet.ucla.edu|
|Principal Investigator: Susan Perlman, M.D.|
|University of California San Francisco||Recruiting|
|San Francisco, California, United States, 94115|
|Contact: Gigi Satris 415-476-2909 Gsatris@memory.ucsf.edu|
|Principal Investigator: Michael Geschwind, MD|
|United States, Florida|
|University of Florida||Recruiting|
|Gainesville, Florida, United States, 32610|
|Contact: Becca Beaulieu, MS 352-273-9194 Becca.Beaulieu@neurology.ufl.edu|
|Principal Investigator: Tetsuo Ashizawa, MD|
|Sub-Investigator: S H Subramony, MD|
|University of South Florida||Recruiting|
|Tampa, Florida, United States, 33620|
|Contact: Kelly Sullivan 813-974-5909 email@example.com|
|Principal Investigator: Theresa Zesiewicz, M.D.|
|United States, Georgia|
|Atlanta, Georgia, United States, 30320|
|Contact: Bettye Robinson 404-728-4909 firstname.lastname@example.org|
|Principal Investigator: George Wilmot, M.D., PhD.|
|United States, Illinois|
|University of Chicago||Recruiting|
|Chicago, Illinois, United States, 60637|
|Contact: Vickie Staszak 773-702-5545 email@example.com|
|Principal Investigator: Christopher Gomez, M.D., PhD.|
|United States, Maryland|
|John Hopkins University||Recruiting|
|Baltimore, Maryland, United States, 21287|
|Contact: Ann Fishman 410-502-5816 firstname.lastname@example.org|
|Principal Investigator: Sarah Ying, M.D., PhD.|
|United States, Massachusetts|
|Boston, Massachusetts, United States, 02114|
|Contact: Jason MacMore 617-726-3216 email@example.com|
|Principal Investigator: Jeremy Schmahmann, M.D.|
|United States, Michigan|
|University of Michigan||Recruiting|
|Ann Arbor, Michigan, United States, 48109|
|Contact: Elizabeth Sullivan 734-232-6247 firstname.lastname@example.org|
|Principal Investigator: Henry Paulson, M.D., PhD.|
|Sub-Investigator: Vikram Shakkottai, M.D., PhD.|
|United States, Minnesota|
|University of Minnesota||Recruiting|
|Minneapolis, Minnesota, United States, 55455|
|Contact: Diane Hutter 612-625-2350 email@example.com|
|Principal Investigator: Khalaf Bushara, M.D.|
|United States, New York|
|New York, New York, United States, 10032|
|Contact: Sheng-Han Kuo, MD 212-305-5558 firstname.lastname@example.org|
|Principal Investigator: Pietro Mazzoni, M.D., PhD.|
|Sub-Investigator: Sheng-Han Kuo, M.D.|
|United States, Utah|
|University of Utah||Recruiting|
|Salt Lake City, Utah, United States, 84112|
|Contact: Pattie Figueroa 801-585-1077 email@example.com|
|Principal Investigator: Stefan Pulst, M.D., PhD.|
|Study Chair:||Tetsuo Ashizawa, MD||University of Florida|