Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Recruiting

• Conditions: Muscular Dystrophies; Muscle Myopathies; Hereditary Spastic Paraplegias; Inherited Neuropathies; Inherited Neuromuscular Conditions

• Registration Number: NCT01568658
• Lead Sponsor: National Institute of Neurological Disorders and Stroke (NINDS)

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.

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.

Study Timeline

• Study Start: 2012-03-20
• Study First Submitted: 2012-03-30
• Study First Submitted QC: 2012-03-30
• Study First Posted: 2012-04-02
• Status Verified: 2025-04-09
• Last Update Submitted: 2025-05-14
• Last Update Posted: 2025-05-15

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 5650

Inclusion Criteria

1. Unaffected family members must be related by blood to a proband enrolled in the study. Biological relations may include first (parent or sibling), second (grandparents, aunts, uncles, half siblings) and third degree relatives (cousins).
2. Age 4 weeks and older.

Unaffected Family members -

Exclusion Criteria

1. Individuals whom are unable or unwilling to be examined.
2. Family members who are showing symptoms of the familial neurogenetic or neuromuscular condition (these may be enrolled as probands).
3. Neonates.
4. Adults who are unable to provide their own consent.

Healthy Volunteers - Inclusion Criteria:

1. Must be unaffected by a neurological condition.
2. Willing and able to comply with all protocol requirements and procedures, including MRI without sedation and without contrast.
3. Able to give informed assent and parent(s)/legal guardian to give informed consent in writing signed by the subject and/or parent(s)/legal guardian.

Healthy Volunteers - Exclusion Criteria:

1. Healthy volunteers who have metal objects in their body that are not MRI-safe. These include the following objects: 1) pacemakers or other implanted electrical devices; 2) brain stimulators; 3) some types of dental implants; 4) aneurysm clips (metal clips on the wall of a large artery); 5) metallic prostheses (including metal pins and rods, heart valves, and cochlear implants; 6) implanted delivery pump; 7) permanent eye liner; or 8) shrapnel fragments.
2. Healthy volunteers who have a fear of closed spaces.
3. Neonates.
4. Pregnant

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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...	Ongoing
Diagnose and characterize patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset and study the natural history and underlying disease mechanism.	Ongoing

Trial Locations

Locations (1)

National Institutes of Health Clinical Center; 🇺🇸 Bethesda, Maryland, United States