Clinical Trial Readiness for the Dystroglycanopathies

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2012 by University of Iowa
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Carrie M Stephan, University of Iowa
ClinicalTrials.gov Identifier:
NCT00313677
First received: April 10, 2006
Last updated: May 7, 2012
Last verified: May 2012
  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

Resource links provided by NLM:


Further study details as provided by University of Iowa:

Biospecimen Retention:   Samples With DNA

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)
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 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
Study Population

neuromuscular care clinic

Criteria

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
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00313677

Contacts
Contact: Carrie Stephan, R.N. M.A. (319) 356-2673

Locations
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      
Sponsors and Collaborators
University of Iowa
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
  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
Genetic Diseases, Inborn
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases

ClinicalTrials.gov processed this record on October 23, 2014