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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.
ClinicalTrials.gov Identifier: NCT00313677
Recruitment Status : Recruiting
First Posted : April 12, 2006
Last Update Posted : February 15, 2023
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Katherine Mathews, University of Iowa

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.

Condition or disease
Muscular Dystrophy

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 more than 20 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.

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Study Type : Observational
Estimated Enrollment : 175 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical Trial Readiness for the Dystroglycanopathies
Study Start Date : April 2006
Estimated Primary Completion Date : July 2025
Estimated Study Completion Date : July 2026

Biospecimen Retention:   Samples With DNA
fibroblasts, whole blood

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
neuromuscular care clinic

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00313677

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Contact: Carrie Stephan, R.N. M.A. (319) 356-2673

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United States, Iowa
University of Iowa, 200 Hawkins Drive Recruiting
Iowa City, Iowa, United States, 52242
Contact: Carrie Stephan, R.N. M.A.    319-356-2673      
Sponsors and Collaborators
Katherine Mathews
National Institute of Neurological Disorders and Stroke (NINDS)
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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
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Katherine Mathews, Professor and Principal Investigator, University of Iowa
ClinicalTrials.gov Identifier: NCT00313677    
Other Study ID Numbers: 200510743
U54NS053672 ( U.S. NIH Grant/Contract )
First Posted: April 12, 2006    Key Record Dates
Last Update Posted: February 15, 2023
Last Verified: February 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Katherine Mathews, University of Iowa:
muscular dystrophy
fukutin-related protein gene
limb girdle
FKRP gene
congenital muscular dystrophy
childhood onset LGMD
adult onset LGMD
alpha dystroglycan
DPM 1, 2 or 3
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn