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
|First Submitted Date||March 30, 2012|
|First Posted Date||April 2, 2012|
|Last Update Posted Date||May 1, 2020|
|Actual Study Start Date||March 20, 2012|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures
|Original Primary Outcome Measures||Not Provided|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Pre-specified Outcome Measures||Not Provided|
|Original Other Pre-specified Outcome Measures||Not Provided|
|Brief Title||Genetic and Physical Study of Childhood Nerve and Muscle Disorders|
|Official Title||Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood|
- 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.
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 Design||Observational Model: Family-Based
Time Perspective: Prospective
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Non-Probability Sample|
|Study Population||Affected probands with the following categories of childhood onset inherited neurological disorders will be enrolled:-peripheral neuropathies; -muscular dystrophies and myopathies; -congenital muscular dystrophies and congenital myopathies; -disorders of the neuromuscular junction; -motor neuron disorders; -neuromotor or movement disorders; -disorders of brain development; -neurometabolic disorders; -disorders that have a phenotype suggestive of neurogenetic or neuromuscular disease but which have not yet been genetically confirmed; Families of affected probands, with known or suspected inherited neurological disorders of childhood onset will be enrolled. Healthy volunteers will enrolled for one-time imaging procedures.|
|Publications *||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Original Estimated Enrollment
|Study Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
Probands inclusion criteria Phase 1:
Probands inclusion criteria Phase 2:
Exclusion criteria for probands Phase 1:
Exclusion criteria for probands Phase 2:
Unaffected Family members - Inclusion Criteria:
Unaffected Family members - Exclusion Criteria:
Healthy Volunteers - Inclusion Criteria:
Healthy Volunteers - Exclusion Criteria:
|Ages||Child, Adult, Older Adult|
|Accepts Healthy Volunteers||Yes|
|Listed Location Countries||United States|
|Removed Location Countries|
|Other Study ID Numbers||120095
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )|
|Study Sponsor||National Institute of Neurological Disorders and Stroke (NINDS)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||April 28, 2020|