Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

  • STATUS
    Recruiting
  • End date
    Dec 20, 2022
  • participants needed
    300
  • sponsor
    Nemours Children's Clinic
Updated on 20 March 2021
neuromuscular diseases

Summary

The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.

Description

Diseases affecting the motor unit--which is composed of the motor neuron, its myelin sheath and its innervated muscle fibers--are a diverse, heterogeneous group having heterogeneous clinical presentations and genetic causes. Many of these disorders have a inherited component. In some cases, the genetics underlying a given neuromuscular/motor neuron disease, like spinal muscular atrophy (SMA) or Duchenne muscular dystrophy, are well characterized. There are, however, disorders whose genetic basis has yet to be determined or genetically characterized diseases which harbor novel mutations. The purpose of this genetic registry is to catalogue early-onset motor neuron and neuromuscular disorders and to determine their genetic bases. With samples obtained from this registry, the investigators will be able to provide a genetic diagnosis for a specific neuromuscular/motor neuron disease which will lead to better care for those patients affected by these diseases.

Many of these disorders have a wide spectrum of phenotypic variability. For example, the severity of SMA is quite variable even though it is caused by the loss of a single gene, i.e. survival motor neuron 1 (SMN1). The number of copies of the duplicated gene survival motor neuron 2 (SMN2) dictates phenotypic severity in SMA. In this study, the research team will also identify potential modifiers of phenotypic severity for specific disorders like SMA and Charcot-Marie-Tooth (CMT) disease. With the identification of novel modifier genes, the investigators will be able to more accurately predict disease outcomes and the investigators will also have novel targets for the development of therapeutic agents for these diseases.

Details
Condition Amyotonia Congenita, Charcot-Marie-Tooth Disease, Spinal Muscular Atrophy, Muscular Dystrophy, Myelopathy, Hereditary motor and sensory neuropathy, Amyotrophic Lateral Sclerosis, Motor Neuron Disease, Fragile X Syndrome, nervous system disorder, Neuropathy, Amyotrophic Lateral Sclerosis (ALS), Spinal Muscular Atrophy With Respiratory Distress 1, Spinal Cord Disorders, Neurologic Disorders, neuromuscular diseases, neuromuscular disorders, neuromuscular disease, neuromuscular disorder, lou gehrig's disease
Treatment Sample collection
Clinical Study IdentifierNCT02532244
SponsorNemours Children's Clinic
Last Modified on20 March 2021

Eligibility

Yes No Not Sure

Inclusion Criteria

Diagnosis of motor neuron/neuromuscular disease confirmed by neurologist
Be seen by one of the study investigators

Exclusion Criteria

not seen by one of the study investigators
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