Clinical Trial Readiness for the Dystroglycanopathies
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| ClinicalTrials.gov Identifier: NCT00313677 |
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Recruitment Status :
Recruiting
First Posted : April 12, 2006
Last Update Posted : February 15, 2023
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| Condition or disease |
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| Muscular Dystrophy |
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 |
| Estimated Enrollment : | 175 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | Clinical Trial Readiness for the Dystroglycanopathies |
| Study Start Date : | April 2006 |
| Estimated Primary Completion Date : | July 2025 |
| Estimated Study Completion Date : | July 2026 |
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00313677
| 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 |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
| Responsible Party: | Katherine Mathews, Professor and Principal Investigator, University of Iowa |
| ClinicalTrials.gov Identifier: | NCT00313677 |
| Other Study ID Numbers: |
200510743 U54NS053672 ( U.S. NIH Grant/Contract ) |
| First Posted: | April 12, 2006 Key Record Dates |
| Last Update Posted: | February 15, 2023 |
| Last Verified: | February 2023 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
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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 |
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Muscular Dystrophies Muscular Disorders, Atrophic Muscular Diseases Musculoskeletal Diseases |
Neuromuscular Diseases Nervous System Diseases Genetic Diseases, Inborn |