Clinical Trial Readiness for the Dystroglycanopathies

July 24, 2025 updated by: Katherine Mathews
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.

Study Overview

Status

Recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

190

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Carrie Stephan, R.N. M.A.
  • Phone Number: (319) 356-2673

Study Locations

  • United States
    • Iowa
      • Iowa City, Iowa, United States, 52242
        • Recruiting
        • University of Iowa, 200 Hawkins Drive
        • Contact:
          • Carrie Stephan, R.N. M.A.
          • Phone Number: (319)356-2673

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

neuromuscular care clinic

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
10 meter walk
Time Frame: through study completion, an average of 1 yea
time to walk 10 meters without assistive device
through study completion, an average of 1 yea

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
4 stair climb
Time Frame: through study completion, an average of 1 yea
time to climb 4 stairs with or without use of rails
through study completion, an average of 1 yea

Collaborators and Investigators

This is where you will find people and organizations involved with this 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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2006

Primary Completion (Estimated)

July 1, 2030

Study Completion (Estimated)

July 1, 2030

Study Registration Dates

First Submitted

April 10, 2006

First Submitted That Met QC Criteria

April 10, 2006

First Posted (Estimated)

April 12, 2006

Study Record Updates

Last Update Posted (Actual)

July 30, 2025

Last Update Submitted That Met QC Criteria

July 24, 2025

Last Verified

July 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 200510743
  • U54NS053672 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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