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Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00004306
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : March 6, 2012
Sponsor:
Collaborator:
The University of Texas Medical Branch, Galveston
Information provided by (Responsible Party):
Tetsuo Ashizawa, Office of Rare Diseases (ORD)

Tracking Information
First Submitted Date October 18, 1999
First Posted Date October 19, 1999
Last Update Posted Date March 6, 2012
Study Start Date November 1999
Actual Primary Completion Date March 2009   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
Official Title Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)
Brief Summary

OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies.

II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.

Detailed Description

PROTOCOL OUTLINE: Participants undergo a comprehensive clinical and molecular evaluation. Studies include: neurologic evaluation, including magnetic resonance imaging and nerve conduction studies; ophthalmologic exam; audiologic exam, including auditory brain stem evoked response; DNA extraction from blood, skin and muscle; genotype phenotype correlation.

A neuropathologic evaluation is conducted postmortem, when possible.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
DNA from blood and skin and muscle biopsy samples.
Sampling Method Non-Probability Sample
Study Population Patients with inherited ataxia
Condition Hereditary Ataxia
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: March 5, 2012)
18
Original Enrollment
 (submitted: June 23, 2005)
30
Actual Study Completion Date March 2009
Actual Primary Completion Date March 2009   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion criteria:

Subjects who have the diagnosis of SCA10 and their immediate relatives.

Exclusion criteria:

Children under 3 years of age, pregnant women, prisoners, mentally incapacitated subjects, and subjects who do not give consent.

Sex/Gender
Sexes Eligible for Study: All
Ages 3 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00004306
Other Study ID Numbers 199/11796
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Tetsuo Ashizawa, Office of Rare Diseases (ORD)
Study Sponsor Office of Rare Diseases (ORD)
Collaborators The University of Texas Medical Branch, Galveston
Investigators
Principal Investigator: Tetsuo Ashizawa, MD University of Texas, Galveston
PRS Account Office of Rare Diseases (ORD)
Verification Date March 2012