Clinical Trial Readiness for the Dystroglycanopathies
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 5/18/2018 |
| Start Date: | April 2006 |
| End Date: | March 2020 |
| Contact: | Carrie Stephan, R.N. M.A. |
| Phone: | (319) 356-2673 |
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.
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 any one of the 18 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.
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 18 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.
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.
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