Ignite Creation Date:
2024-05-05 @ 4:48 PM
Last Modification Date:
2024-10-26 @ 9:24 AM
Study NCT ID:
NCT00313677
Status:
RECRUITING
Last Update Posted:
2024-04-09
First Post:
2006-04-10
Brief Title:
Clinical Trial Readiness for the Dystroglycanopathies
Sponsor:
Katherine Mathews
Organization:
University of Iowa
Study Overview
Official Title:
Clinical Trial Readiness for the Dystroglycanopathies
Status:
RECRUITING
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| U54NS053672 | NIH | None | httpsreporternihgovquickSearchU54NS053672 |