Trial record 1 of 77 for:    "spinocerebellar ataxia type 1" OR "Spinocerebellar Ataxia"
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Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by University of Florida
Sponsor:
Information provided by (Responsible Party):
University of Florida
ClinicalTrials.gov Identifier:
NCT01060371
First received: January 29, 2010
Last updated: May 20, 2014
Last verified: May 2014
  Purpose

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 2 years and have a total of 4 study related visits done every 6 months.


Condition Intervention
Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 3
Spinocerebellar Ataxia Type 6
Genetic: All Participants

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Resource links provided by NLM:


Further study details as provided by University of Florida:

Primary Outcome Measures:
  • 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) ] [ Designated as safety issue: No ]
  • 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) ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • The effects of the disease on the Activities of Daily Living (ADL)in patients with Spinocerebellar Ataxias [ Time Frame: indefinitely ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Blood samples collection for DNA analysis and genetic modifier study


Estimated Enrollment: 800
Study Start Date: April 2010
Estimated Study Completion Date: January 2015
Estimated Primary Completion Date: January 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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.

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.

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.

  Eligibility

Ages Eligible for Study:   6 Years and older
Genders Eligible for Study:   Both
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 18 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
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01060371

Locations
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: Joseph Winer    415-476-2909    JWiner@memory.ucsf.edu   
Principal Investigator: Michael Geschwind, MD         
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32610
Contact: Phuong Deleyrolle, MS    352-273-7732    pdeleyrolle@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    kbarber@health.usf.edu   
Principal Investigator: Theresa Zesiewicz, M.D.         
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 Recruiting
Chicago, Illinois, United States, 60637
Contact: Vickie Staszak    773-702-5545    vstaszak@neurology.bsd.uchicago.edu   
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    ataxiaresearch@jhu.edu   
Principal Investigator: Sarah Ying, M.D., PhD.         
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 Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: Elizabeth Sullivan    734-232-6247    elizsull@umich.edu   
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 Hutte    612-625-2350    hutte019@umn.edu   
Principal Investigator: Khalaf Bushara, M.D.         
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 Recruiting
Salt Lake City, Utah, United States, 84112
Contact: Pattie Figueroa    801-585-1077    karlaf@genetics.utah.edu   
Principal Investigator: Stefan Pulst, M.D., PhD.         
Sponsors and Collaborators
University of Florida
Investigators
Study Chair: Tetsuo Ashizawa, MD University of Florida
  More Information

Additional Information:
No publications provided

Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT01060371     History of Changes
Obsolete Identifiers: NCT01223417
Other Study ID Numbers: RC1NS068897
Study First Received: January 29, 2010
Last Updated: May 20, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by University of Florida:
Spinocerebellar Ataxia
Natural History
Genetic Modifiers
DNA testing

Additional relevant MeSH terms:
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Ataxia
Machado-Joseph Disease
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Ataxia
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on July 24, 2014