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7301: Natural History of and Genetic Modifiers in Spinocerebellar Ataxias

Status: Recruiting

Study Summary

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Background

Background 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?

About this Study

This is a nationwide study and we expect that close to 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.

For each visit you will have:

• Medical History
• Physical exam
• A neurological examination that will help your doctor calculate a score that will reflect how severe your disease is using the Scale for Assessment and Rating of Ataxia (SARA).
• The 9HP test; a 9 hole pegboard task
• The "click test"; a measurement of finger-pointing coordination
• The T25W test; a measurement of how long it takes for you to walk 25 feet
• ADL:UHDRS IV; a questionnaire that asks you about your daily living activities at home
• HR-QoL (SF 36); a questionnaire that tries to find out how the disease has affected your physical and mental quality of life
• Disease stage estimation
• Demographics and disease-related information (ie. age, sex, race, age of disease onset, disease duration, genetic testing results)

We will, in some cases, also ask you to

1. Wear an electronic monitor in the form of a light ankle bracelet for a period of 8 days after each clinic visit; this device, known as a Step Activity Monitor (SAM) will automatically record information about your walking. You will mail the monitor back so that we can collect that information
2. Also take a computer key board to home with you. You (or someone that can help you) will have to install that on your computer and we will instruct you to do a series of to and fro arm movements to punch two of the keys. This will be done after you log on to a specific web site (we will provide the address) so we can collect information about how you do this at home.

In addition, your blood sample will be collected at least once during the entire study to extract your DNA. The sample will be sent to the research laboratory of Dr Stefan Pulst at University of Utah.

Targeted Enrollment

To be eligible to participate, you must:

• Have symptomatic ataxic disease
• Have a definite molecular diagnosis of SCA 1, 2, 3, or 6 either in you or another affected family member
• Be willing to participate in the study and able to give informed consent.
• Be 6 years of age or above

You are not eligible to participate if:

• You have been diagnosed with a known recessive, X-linked or Mitochondrial Ataxia.
• The diagnosis of SCA 1, 2, and 3 has already been excluded by previous DNA testing.
• You have a lack of willingness to participate in this study.

How to participate

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

California

• University of California at Los Angeles, Los Angeles
  Tarshia Nulliah
  E-mail: tnulliah@mednet.ucla.edu
  Phone: (310) 206-8153
  
  

• UCSF Memory and Aging Center, San Francisco
  Gigi Satris
  Research Coordinator
  E-mail: gsatris@memory.ucsf.edu
  Phone: (415) 476-2909
  

Florida

• University of Florida, McKnight Brain Institute, Gainesville
  Kyle Rizer, Research Coordinator
  E-mail: Kyle.rizer@neurology.ufl.edu
  Phone: (352) 294-5194
  
  
• University of South Florida, Tampa
  

  Kelly Sullivan, MSPH
  E-mail: kbarber@health.usf.edu
  Phone: (813) 974-5909

Georgia

• Emory University School of Medicine, Atlanta
  Bettye Robinson
  E-mail: bnrobin@emory.edu
  Phone: (404) 728-4909

Illiniois

• University of Chicago, Chicago
  Vickie Staszak
  E-mail: vstaszak@neurology.bsd.uchicago.edu
  Phone: (773) 702 5545

Maryland

• Johns Hopkins University, Baltimore
  Ann Fishman
  E-mail: ataxiaresearch@jhu.edu
  Phone: (410) 502-5816

Massachusetts

• Harvard University, Massachusetts General Hospital, Boston
  Jason MacMore
  E-mail: jmacmore@partners.org
  Phone: (617) 726-3216

Michigan

• University of Michigan School of Medicine, Ann Arbor
  Elizabeth Sullivan
  E-mail: elizsull@umich.edu
  Phone: (734) 232-6247

Minnesota

• University of Minnesota School of Medicine, Minneapolis
  Diane Hutter
  E-mail: hutte019@umn.edu
  Phone: (612) 625-2350

New York

• Columbia University, New York
  Sheng-Han Kuo, MD
  E-mail: Sk3295@columbia.edu
  Phone: 212-305-5558

Texas

• Baylor College of Medicine, Houston
  Anne Daleiden, MM, MT-BC, NMT
  E-mail: daleiden@bcm.edu
  Phone: 713-798-7438
  

Utah

• University of Utah School of Medicine, Salt Lake City
  Karla Figueroa
  E-mail: karlaf@genetics.utah.edu
  Phone: (801) 585-1077