Ignite Creation Date:
2024-05-05 @ 11:23 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00017745
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2001-06-08
Brief Title:
PhenotypeGenotype Correlations in Neuromuscular Disorders
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
PhenotypeGenotype Correlations in Inherited Myopathies
Status:
COMPLETED
Status Verified Date:
2007-05-10
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 Neuromuscular Diseases Section NDS is conducting research on certain inherited myopathies and neuropathies disorders that lead to disability and sometimes death NDS along with other groups has identified some disease-causing genes The National Institutes of Health Clinical Center proposes new research to identify additional hereditary neuromuscular diseases and conduct genetic studies in order to localize clone and characterize the diseases
An expected 50 patients with known or suspected inherited myopathy or neuropathy and their families will be recruited for this study If travel to the Clinical Center is impossible investigators may come to them to do the tests Ten to twenty cubic centimeters of blood will be drawn for DNA extraction and genotyping Some abnormal movements of muscle atrophy will be documented by videotaping If necessary diagnostic laboratory and radiographic studies will be done to confirm diagnosis Because the diseases are hereditary blood may also be drawn from family members The family will be counseled and the participants invited back annually to investigate the progression of the disease
Each participant will be evaluated by a history and initial neurological exam Up to another 20 mL of blood will be drawn for routine blood studies Other medical care procedures may include a chest x-ray EKG and echocardiogram CT computed tomography or MRI magnetic resonance imaging scan pulmonary function tests and physical therapy assessment Possible research procedures may include MR spectroscopy nerve conduction study electromyography muscle or nerve biopsy and lumbar puncture
The researchers have decided not to inform the family if nonpaternity or adoption is discovered by the DNA genotyping Also because a carrier of the disease gene may not necessarily develop the disease family members will not be informed if they are carriers
An expected 50 patients with known or suspected inherited myopathy or neuropathy and their families will be recruited for this study If travel to the Clinical Center is impossible investigators may come to them to do the tests Ten to twenty cubic centimeters of blood will be drawn for DNA extraction and genotyping Some abnormal movements of muscle atrophy will be documented by videotaping If necessary diagnostic laboratory and radiographic studies will be done to confirm diagnosis Because the diseases are hereditary blood may also be drawn from family members The family will be counseled and the participants invited back annually to investigate the progression of the disease
Each participant will be evaluated by a history and initial neurological exam Up to another 20 mL of blood will be drawn for routine blood studies Other medical care procedures may include a chest x-ray EKG and echocardiogram CT computed tomography or MRI magnetic resonance imaging scan pulmonary function tests and physical therapy assessment Possible research procedures may include MR spectroscopy nerve conduction study electromyography muscle or nerve biopsy and lumbar puncture
The researchers have decided not to inform the family if nonpaternity or adoption is discovered by the DNA genotyping Also because a carrier of the disease gene may not necessarily develop the disease family members will not be informed if they are carriers
Detailed Description:
The goal of this protocol is to identify families with inherited neuromuscular disorders evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms Studies of inherited myopathies in large families with good genealogical records are especially valuable Patients with diseases of known molecular basis will be genotyped to conduct analysis of phenotypegenotype correlation Patients with diseases of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and to genetic mechanisms responsible for a specific disorder
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 |
|---|---|---|---|
| 01-N-0187 | None | None | None |