Clinical Trial Readiness for the Dystroglycanopathies

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2012 by University of Iowa
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Carrie M Stephan, University of Iowa
ClinicalTrials.gov Identifier:
NCT00313677
First received: April 10, 2006
Last updated: May 7, 2012
Last verified: May 2012

April 10, 2006
May 7, 2012
April 2006
March 2015   (final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT00313677 on ClinicalTrials.gov 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 one of the following genes: FKRP, fukutin, POMT1, POMT2, POMGnT1 or LARGE. Symptoms range from congenital muscular dystrophy that can also 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
Observational Model: Cohort
Time Perspective: Prospective
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Retention:   Samples With DNA
Description:

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 ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
120
March 2020
March 2015   (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.
Both
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Contact: Carrie Stephan, R.N. M.A. (319) 356-2673
United States
 
NCT00313677
1U54NS053672-06, U54NS053672
No
Carrie M Stephan, University of Iowa
University of Iowa
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 2012

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP