Clinical Trial Readiness for the Dystroglycanopathies
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Purpose
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 |
|---|
|
Muscular Dystrophy |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort Time Perspective: Prospective |
| Official Title: | Clinical Trial Readiness for the Dystroglycanopathies |
fibroblasts, whole blood
| Estimated Enrollment: | 120 |
| Study Start Date: | April 2006 |
| Estimated Study Completion Date: | March 2020 |
| Estimated Primary Completion Date: | March 2015 (Final data collection date for primary outcome measure) |
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.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
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.
Contacts and Locations| Contact: Carrie Stephan, R.N. M.A. | (319) 356-2673 |
| 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 | |
| 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 |
More Information
Additional Information:
No publications provided
| Responsible Party: | Carrie M Stephan, Clinical Research Coordinator, University of Iowa |
| ClinicalTrials.gov Identifier: | NCT00313677 History of Changes |
| Other Study ID Numbers: | 1U54NS053672-06, U54NS053672 |
| Study First Received: | April 10, 2006 |
| Last Updated: | May 7, 2012 |
| Health Authority: | United States: Federal Government |
Keywords provided by University of Iowa:
|
congenital muscular dystrophy muscular dystrophy MD fukutin-related protein gene limb girdle FKRP gene childhood onset LGMD |
adult onset LGMD POMT1 POMT2 POMGnT1 LARGE alpha dystroglycan dystroglycanopathy |
Additional relevant MeSH terms:
|
Muscular Dystrophies Muscular Disorders, Atrophic Muscular Diseases Musculoskeletal Diseases |
Neuromuscular Diseases Nervous System Diseases Genetic Diseases, Inborn |
ClinicalTrials.gov processed this record on June 17, 2013