- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00313677
Clinical Trial Readiness for the Dystroglycanopathies
Study Overview
Status
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
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Carrie Stephan, R.N. M.A.
- Phone Number: (319) 356-2673
Study Locations
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Iowa
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Iowa City, Iowa, United States, 52242
- Recruiting
- University of Iowa, 200 Hawkins Drive
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Contact:
- Carrie Stephan, R.N. M.A.
- Phone Number: 319-356-2673
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
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
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Collaborators and Investigators
Sponsor
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
General Publications
- Coffey LN, Stephan CM, Zimmerman MB, Decker CK, Mathews KD. Diagnostic delay in patients with FKRP-related muscular dystrophy. Neuromuscul Disord. 2021 Dec;31(12):1235-1240. doi: 10.1016/j.nmd.2021.08.013. Epub 2021 Sep 6.
- Libell EM, Bowdler NC, Stephan CM, Zimmerman MB, Gedlinske AM, Mathews KD. The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9. Muscle Nerve. 2021 Jun;63(6):812-817. doi: 10.1002/mus.27184. Epub 2021 Feb 10.
- Gedlinske AM, Stephan CM, Mockler SRH, Laubscher KM, Laubenthal KS, Crockett CD, Zimmerman MB, Mathews KD. Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up. Neurology. 2020 Oct 13;95(15):e2131-e2139. doi: 10.1212/WNL.0000000000010604. Epub 2020 Aug 6.
- Carlson CR, McGaughey SD, Eskuri JM, Stephan CM, Zimmerman MB, Mathews KD. Illness-associated muscle weakness in dystroglycanopathies. Neurology. 2017 Dec 5;89(23):2374-2380. doi: 10.1212/WNL.0000000000004720. Epub 2017 Nov 3.
- Crockett CD, Bertrand LA, Cooper CS, Rahhal RM, Liu K, Zimmerman MB, Moore SA, Mathews KD. Urologic and gastrointestinal symptoms in the dystroglycanopathies. Neurology. 2015 Feb 3;84(5):532-9. doi: 10.1212/WNL.0000000000001213. Epub 2015 Jan 7.
Study record dates
Study Major Dates
Study Start
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
- muscular dystrophy
- MD
- fukutin-related protein gene
- limb girdle
- FKRP gene
- congenital muscular dystrophy
- childhood onset LGMD
- adult onset LGMD
- POMT1
- POMT2
- POMGnT1
- LARGE
- alpha dystroglycan
- dystroglycanopathy
- ISPD/CRPPA
- DPM 1, 2 or 3
- GMPPB
- B3GNT1/B4GAT1
- B3GALNT2
- GTDC2/POMGnT2
- TMEM5/RXYLT1
- Fukutin
- DAG1
- POMK/SGK196
- DOLK
- GO5R2
- TRAPPC11
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)?
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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