Genetic and Physical Study of Childhood Nerve and Muscle Disorders
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|ClinicalTrials.gov Identifier: NCT01568658|
Recruitment Status : Recruiting
First Posted : April 2, 2012
Last Update Posted : May 1, 2020
- Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affected people and their family members, as well as healthy volunteers.
- To better understand nerve and muscle disorders that start early in life and run in families.
- Individuals at least 4 weeks old with childhood-onset muscular and nerve disorders, including those who have a later onset of a disorder that typically has childhood onset.
- Affected and unaffected family members of the individuals with muscular and nerve disorders.
- Healthy volunteers at least 4 weeks old with no nerve or muscle disorders.
- Participants will be screened with a physical exam and medical history. Genetic information will be collected from blood, saliva, cheek swab, or skin samples. Urine samples may also be collected.
- Healthy volunteers and unaffected family members will have imaging studies of the muscles. These studies will include magnetic resonance imaging (MRI) and ultrasound scans. Results will be compared with those from the affected participants.
- All participants with nerve and muscle disorders will have multiple tests, including the following:
- Imaging studies of the muscles, including ultrasound and MRI scans.
- Imaging studies of the bones, such as x-rays and DEXA scans.
- Heart and lung function tests.
- Eye exams.
- Nerve and muscle electrical activity tests and biopsies.
- Video and photo image collection of affected muscles.
- Speech, language, and swallowing evaluation.
- Lumbar puncture to collect spinal fluid for study.
- Tests of movement, attention, thinking, and coordination.
- Participants with nerve and muscle disorders will return to the Clinical Center every year. They will repeat the tests and studies at these visits.
|Condition or disease|
|Muscular Dystrophies Muscle Myopathies Hereditary Spastic Paraplegias Inherited Neuropathies Inherited Neuromuscular Conditions|
To diagnose and elucidate the underlying disease mechanism in patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset (phase 1 of the protocol) and to study the natural history and mechanism of disease in neuromuscular and neurogenetic disorders of childhood (phase 2 of the protocol).
Patients with childhood onset neuromuscular and neurogenetic disorders, their affected and unaffected family members, and healthy volunteers. Patients with later onset of a disorder that is known to typically have childhood onset will be included as well.
Diagnostic and prospective longitudinal natural history study.
Diagnose and characterize patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset and study the natural history and underlying disease mechanism. In the characterized patient population identify and develop effective outcome measures for use in future clinical trials, including applicable motor scales, quality of life scales, biomarkers from blood and urine, imaging studies, and pulmonary function tests.
|Study Type :||Observational|
|Estimated Enrollment :||5650 participants|
|Official Title:||Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood|
|Actual Study Start Date :||March 20, 2012|
Affected probands over age 4 weeks and onwards with known or suspected inherited neurological disorders of childhood onset
Healthy volunteers will be recruited for the imaging procedures in order to establish baseline and age-range matched data on the healthy, maturing muscle, spinal cord volume and dynamic breathing
Single patient on Idebenone
Single patient on IND expanded access of Idebenone
Unaffected family members
Families of affected probands with known or suspected inherited neurological disorders of childhood onset
- Diagnose and characterize patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset and study the natural history and underlying disease mechanism. [ Time Frame: Ongoing ]
- In the characterized patient population identify and develop effective outcome measures for use in future clinical trials, including applicable motor scales, quality of life scales, biomarkers from blood and urine, imaging studies, and pulmonary... [ Time Frame: Ongoing ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01568658
|Contact: Sandra Donkervoort||(301) firstname.lastname@example.org|
|Contact: Carsten G Bonnemann, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Carsten G Bonnemann, M.D.||National Institute of Neurological Disorders and Stroke (NINDS)|