Ignite Creation Date:
2024-05-05 @ 10:00 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001871
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
1999-11-03
Brief Title:
Study of Muscle Abnormalities in Patients With Specific Genetic Mutations
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
An Exploratory Study of Skeletal Muscle Abnormalities in Patients With Mutations in Alpha-Tropomyosin and PABP2 Genes
Status:
COMPLETED
Status Verified Date:
1999-12
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:
Hypertrophic cardiomyopathy HCM is a genetically inherited disease affecting the heart It causes thickening of heart muscle especially the chamber responsible for pumping blood out of the heart the left ventricle This condition can cause patients to experience symptoms of chest pain shortness of breath fatigue and heart beat palpitations Researchers believe the disease may be caused by abnormalities in the genes responsible for producing proteins of the heart muscle
Oculopharyngeal muscular dystrophy OPMD is another genetically inherited disease This condition affects the muscles of the eyes and throat causing symptoms of weak eye movements difficulty swallowing and speaking and weakness of the arms and legs
In previous studies researchers have found that several patients with hypertrophic cardiomyopathy HCM also had oculopharyngeal muscular dystrophy OPMD Researchers are interested in learning more about how these two diseases are associated with each other
In this study researcher plan to collect samples of muscles skeletal muscle biopsies from patients belonging to families in which several members have inherited one or both of these diseases The muscle samples will be used to link the muscle abnormalities with the specific genetic mutations
Patients participating in this study may not be directly benefited by it However information gathered because of this study may be used to develop better techniques for diagnosing and treating these conditions
Oculopharyngeal muscular dystrophy OPMD is another genetically inherited disease This condition affects the muscles of the eyes and throat causing symptoms of weak eye movements difficulty swallowing and speaking and weakness of the arms and legs
In previous studies researchers have found that several patients with hypertrophic cardiomyopathy HCM also had oculopharyngeal muscular dystrophy OPMD Researchers are interested in learning more about how these two diseases are associated with each other
In this study researcher plan to collect samples of muscles skeletal muscle biopsies from patients belonging to families in which several members have inherited one or both of these diseases The muscle samples will be used to link the muscle abnormalities with the specific genetic mutations
Patients participating in this study may not be directly benefited by it However information gathered because of this study may be used to develop better techniques for diagnosing and treating these conditions
Detailed Description:
Mutations of the fast alpha-tropomyosin gene cause hypertrophic cardiomyopathy HCM and are also expressed in skeletal muscle However the skeletal phenotype is undetermined We have identified three families in which HCM is caused by an alpha-tropomyosin mutation Several family members of one of these kindreds have also inherited a distinct skeletal myopathy called oculopharyngeal muscular dystrophy OPMD which is caused by mutations of the polyA binding protein-2 gene PABP2 The pathologic hallmark of this disease is unique nuclear filament inclusions in skeletal muscle fibers It is possible that the skeletal muscle phenotype is more severe when the two diseases occur in the same patient We wish to perform skeletal muscle biopsies to determine the skeletal myopathy in patients with alpha-tropomyosin in patients with PABP2 gene mutation and in patients who have inherited both diseases
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 |
|---|---|---|---|
| 99-H-0036 | None | None | None |