Genetic and Physical Study of Childhood Nerve and Muscle Disorders

  • STATUS
    Recruiting
  • participants needed
    5650
  • sponsor
    National Institute of Neurological Disorders and Stroke (NINDS)
Updated on 16 May 2022
x-rays
myopathy
Accepts healthy volunteers

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.

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.

Details
Condition Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies, Inherited Neuromuscular Conditions
Clinical Study IdentifierNCT01568658
SponsorNational Institute of Neurological Disorders and Stroke (NINDS)
Last Modified on16 May 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

Must be unaffected by a neurological condition
Willing and able to comply with all protocol requirements and procedures, including MRI without sedation and without contrast
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

Exclusion Criteria

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
Healthy volunteers who have a fear of closed spaces
Neonates
Pregnant
Clear my responses

How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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