Protocol Details
Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients with a Fragile Sarcolemmal Muscular Dystrophy
This study is NOT currently recruiting participants.
Summary
Number | 13-CH-0112 |
Sponsoring Institute | National Institute of Child Health and Human Development (NICHD) |
Recruitment Detail | Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 18 Years
Max Age: 99 Years |
Referral Letter Required | No |
Population Exclusion(s) | Children |
Keywords | Membrane Wound;
Inflammatory Cytokines;
Exercise;
Plasma Membrane Repair;
Predictors of Outcome;
Natural History |
Recruitment Keyword(s) | None |
Condition(s) | Genetic Disorder |
Investigational Drug(s) | None |
Investigational Device(s) | None |
Intervention(s) | None |
Supporting Site | National Institute of Child Health and Human DevelopmentNational Institute of Neurological Disorders and StrokeNIH Clinical CenterUniversity of Massachusetts Medical School |
Background:
- Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems. Researchers are looking at several muscle enzymes, or chemicals that affect how muscle cells function. By studying changes in these enzymes, they may be able to better understand how muscular dystrophy affects the cells. Researchers want to collect biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular dystrophy. This information may provide better treatments for this condition.
Objectives:
- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular dystrophy.
Eligibility:
- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy.
Design:
- Participants will be screened with a medical history and physical exam.
- Participants will be asked to come for four visits to the National Institutes of Health Clinical Center. The visits will be at least 2 months apart. Each visit will require participants to stay for 5 days at the clinical center.
- During each visit, participants will provide frequent small blood samples. These samples will be collected while at rest and after physical exercise.
- Participants will also have a physical therapy assessment. They will perform standard motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour each time.
- Treatment will not be provided as part of this study.
Eligibility
INCLUSION CRITERIA: -Aged 18 or older
-Have a confirmed genetic diagnosis of one of the FSMDs or have a clinical phenotype consistent with one of the FSMDs
-Be able to travel to the NIH Clinical Center at the NIH for studies
-Able to commit to multiple 5 day stays at the NIH Clinical Center
-Established primary care physician
-Ambulant: able to walk 10 meters or 33 feet without walking aids or orthotics
EXCLUSION CRITERIA:
-Fail to meet the above inclusion criteria
-Are unable or unwilling to be examined
-Adults unable to provide their own consent
-Have active, on-going medical problems such as (e.g. diabetes, hypothyroidism, pancreatitis, anemia, cancer, renal, hepatic, pulmonary or cardiac disease) or who have undergone recent surgery (i.e. less than 8 days post-surgery)
-Pregnant females
-Currently taking any or a combination of anti-inflammatory drugs, statins or other drugs with known myotoxicity, narcotics
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT01851447Protocol Details
Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients with a Fragile Sarcolemmal Muscular Dystrophy
This study is NOT currently recruiting participants.
Summary
Number | 13-CH-0112 |
Sponsoring Institute | National Institute of Child Health and Human Development (NICHD) |
Recruitment Detail | Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 18 Years
Max Age: 99 Years |
Referral Letter Required | No |
Population Exclusion(s) | Children |
Keywords | Membrane Wound;
Inflammatory Cytokines;
Exercise;
Plasma Membrane Repair;
Predictors of Outcome;
Natural History |
Recruitment Keyword(s) | None |
Condition(s) | Genetic Disorder |
Investigational Drug(s) | None |
Investigational Device(s) | None |
Intervention(s) | None |
Supporting Site | National Institute of Child Health and Human DevelopmentNational Institute of Neurological Disorders and StrokeNIH Clinical CenterUniversity of Massachusetts Medical School |
Background:
- Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems. Researchers are looking at several muscle enzymes, or chemicals that affect how muscle cells function. By studying changes in these enzymes, they may be able to better understand how muscular dystrophy affects the cells. Researchers want to collect biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular dystrophy. This information may provide better treatments for this condition.
Objectives:
- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular dystrophy.
Eligibility:
- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy.
Design:
- Participants will be screened with a medical history and physical exam.
- Participants will be asked to come for four visits to the National Institutes of Health Clinical Center. The visits will be at least 2 months apart. Each visit will require participants to stay for 5 days at the clinical center.
- During each visit, participants will provide frequent small blood samples. These samples will be collected while at rest and after physical exercise.
- Participants will also have a physical therapy assessment. They will perform standard motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour each time.
- Treatment will not be provided as part of this study.
Eligibility
INCLUSION CRITERIA: -Aged 18 or older
-Have a confirmed genetic diagnosis of one of the FSMDs or have a clinical phenotype consistent with one of the FSMDs
-Be able to travel to the NIH Clinical Center at the NIH for studies
-Able to commit to multiple 5 day stays at the NIH Clinical Center
-Established primary care physician
-Ambulant: able to walk 10 meters or 33 feet without walking aids or orthotics
EXCLUSION CRITERIA:
-Fail to meet the above inclusion criteria
-Are unable or unwilling to be examined
-Adults unable to provide their own consent
-Have active, on-going medical problems such as (e.g. diabetes, hypothyroidism, pancreatitis, anemia, cancer, renal, hepatic, pulmonary or cardiac disease) or who have undergone recent surgery (i.e. less than 8 days post-surgery)
-Pregnant females
-Currently taking any or a combination of anti-inflammatory drugs, statins or other drugs with known myotoxicity, narcotics
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT01851447