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Clinical Trial Readiness for the Dystroglycanopathies

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ClinicalTrials.gov Identifier: NCT00313677
Recruitment Status : Recruiting
First Posted : April 12, 2006
Last Update Posted : May 16, 2018
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Katherine Mathews, University of Iowa

Tracking Information
First Submitted Date April 10, 2006
First Posted Date April 12, 2006
Last Update Posted Date May 16, 2018
Study Start Date April 2006
Estimated Primary Completion Date March 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00313677 on ClinicalTrials.gov Archive Site
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 Trial Readiness for the Dystroglycanopathies
Official Title Clinical Trial Readiness for the Dystroglycanopathies
Brief Summary The purpose of the study is to describe the early signs and symptoms of the dystroglycanopathies, and to gather information that will be required for future clinical trials.
Detailed Description

Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The disorders are caused by mutations, or changes, in genes. Genes are tiny pieces of inherited material (DNA) that direct the body to make certain kinds of proteins.

In this study, researchers will examine the clinical presentation of muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan. Patients with dystroglycanopathies could have mutations in any one of the 18 currently identified genes, or evidence of dystroglycanopathy in biopsied muscle tissue . Symptoms range from congenital muscular dystrophy that may involve the brain and eye, through an adult-onset limb girdle muscular dystrophy.

The study involves a clinical evaluation at the University of Iowa. The evaluation includes muscle strength and motor ability testing, lung function testing, quality of life and activity assessment, and a review of past medical history. Portions of this evaluation will be repeated on a yearly basis. Financial assistance is available for travel to Iowa City. Support is also available for genetic testing for people with a dystroglycanopathy diagnosis based on muscle or skin biopsy analysis.

Knowledge gained from this study will improve healthcare recommendations for people with dystroglycanopathies, and provide a baseline for further study, including potential treatment options.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
fibroblasts, whole blood
Sampling Method Non-Probability Sample
Study Population neuromuscular care clinic
Condition Muscular Dystrophy
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: November 19, 2010)
120
Original Enrollment
 (submitted: April 10, 2006)
100
Estimated Study Completion Date March 2020
Estimated Primary Completion Date March 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Elevated CK (creatine kinase)
  • Evidence of a dystroglycanopathy as determined by review of muscle pathology OR documented mutation in one of the known genes OR abnormal alpha-dystroglycan glycosylation in cultured fibroblasts
  • Dystroglycanopathies are predicted to affect all racial and ethnic backgrounds, and all patients with dystroglycanopathies will be eligible for participation.
  • Participants may be of any age, including children, and males and females will be recruited equally.
  • Patients will have varying degrees of muscular weakness, but otherwise should be in relatively good health.

Exclusion Criteria:

  • There are no exclusion criteria.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Carrie Stephan, R.N. M.A. (319) 356-2673
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00313677
Other Study ID Numbers 200510743
U54NS053672 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Katherine Mathews, University of Iowa
Study Sponsor Katherine Mathews
Collaborators National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Katherine Mathews, M.D. University of Iowa
Study Director: Kevin Campbell, Ph.D. Co-Investigator
Study Director: Steven A. Moore, M.D. Ph.D. Co-Investigator
PRS Account University of Iowa
Verification Date May 2018