Clinical Trial Readiness for the Dystroglycanopathies

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00313677
Recruitment Status : Recruiting
First Posted : April 12, 2006
Last Update Posted : May 16, 2018
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Katherine Mathews, University of Iowa

April 10, 2006
April 12, 2006
May 16, 2018
April 2006
March 2020   (Final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT00313677 on Archive Site
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Clinical Trial Readiness for the Dystroglycanopathies
Clinical Trial Readiness for the Dystroglycanopathies
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.

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.

Observational Model: Cohort
Time Perspective: Prospective
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Retention:   Samples With DNA
fibroblasts, whole blood
Non-Probability Sample
neuromuscular care clinic
Muscular Dystrophy
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
March 2020
March 2020   (Final data collection date for primary outcome measure)

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.
Sexes Eligible for Study: All
Child, Adult, Older Adult
Contact: Carrie Stephan, R.N. M.A. (319) 356-2673
United States
U54NS053672 ( U.S. NIH Grant/Contract )
Not Provided
Plan to Share IPD: No
Katherine Mathews, University of Iowa
Katherine Mathews
National Institute of Neurological Disorders and Stroke (NINDS)
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
University of Iowa
May 2018