Genetic and Physical Study of Childhood Nerve and Muscle Disorders

NCT01568658 | Active Not Recruiting

• 2 other identifiers: 12009512-N-0095
• Study Type: observational
• Target: 2,323
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Hereditary Myopathies; Neuropathology; Muscular Dystrophy; Natural History

Outcome Measures

Primary Outcomes (2)

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

  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...

  Ongoing

Study Arms (4)

Affected probands

Affected probands over age 4 weeks and onwards with known or suspected inherited neurological disorders of childhood onset

Healthy volunteers

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

Eligibility Criteria

• Age: 1 Day - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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. A single patient with compound heterozygous FDX2 mutations will be enrolled under an emergency IND for use of Idebenone for slowing progression of subacute blindness.

You may not qualify if:

• Aged 4 weeks and older
• Documentation of a personal history of a childhood-onset, hereditary/familial, neurological disorder or later onset of a disease that more commonly has childhood onset. Acceptable documentation includes evaluation through any or all of the following evaluations done prior to enrollment.
• Medical history, including family history information
• Physical examination
• Muscle, nerve, or skin biopsy
• Magnetic resonance imaging (MRI)
• Electromyography (EMG)
• Nerve conduction study (NCS)
• Electroencephalogram (EEG)
• Muscle ultrasound
• Genetic, metabolic, or other laboratory testing such as increased serum Creatine Kinase (CK) and abnormal serum lactate/pyruvate ratio.
• Individuals who are unable or unwilling to be examined
• Minors who do not hve a parent or guardian able to provide informed consent
• Adults seen offsite who are unable to provide their own consent
• Aged 4 weeks and older

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Muscular Dystrophies; Spastic Paraplegia, Hereditary

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Congenital Abnormalities

Study Officials

• Sandra Donkervoort

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 30, 2012
• First Posted: April 2, 2012
• Study Start: March 20, 2012
• Last Updated: May 5, 2026

Record last verified: 2026-05-01

Locations

US (1)