Ignite Creation Date:
2025-12-25 @ 12:12 AM
Ignite Modification Date:
2026-01-10 @ 3:18 PM
Study NCT ID:
NCT01568658
Status:
RECRUITING
Last Update Posted:
2025-11-28
First Post:
2012-03-30
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genetic and Physical Study of Childhood Nerve and Muscle Disorders
Sponsor:
National Institute of Neurological Disorders and Stroke (NINDS)
Organization:
Study Overview
Official Title:
Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood
Status:
RECRUITING
Status Verified Date:
2025-09-26
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:
Background:
\- 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.
Objectives:
\- To better understand nerve and muscle disorders that start early in life and run in families.
Eligibility:
* 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.
Design:
* 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.
\- 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.
Objectives:
\- To better understand nerve and muscle disorders that start early in life and run in families.
Eligibility:
* 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.
Design:
* 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.
Detailed Description:
Objective:
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).
Study population:
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.
Design:
Diagnostic and prospective longitudinal natural history study.
Outcome Measures:
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.
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).
Study population:
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.
Design:
Diagnostic and prospective longitudinal natural history study.
Outcome Measures:
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
Secondary ID Infos
| Secondary ID | Type | Domain | Link | View |
|---|---|---|---|---|
| 12-N-0095 | None | None | View |