| Registry | NCT02532244 |
|---|---|
| Status | Completed |
| Study type | Observational |
| Enrollment | 230 (Actual) |
| Sponsor | Nemours Children's Clinic (Other) |
| Conditions | Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease, Muscular Dystrophy, Spinal Muscular Atrophy With Respiratory Distress 1, Amyotrophic Lateral Sclerosis, Motor Neuron Disease, Neuromuscular Disease, Peroneal Muscular Atrophy |
| Interventions | sample collection (Other) |
| Dates | start 2015-06-01, primary completion 2024-12-18, completion 2024-12-18, first posted 2015-08-25, last updated 2024-12-19 |
| Locations | 3 sites in United States |
Related Papers Related Patents Related Grants Related Experts
All trials for Spinal Muscular Atrophy All trials for Charcot-Marie-Tooth Disease All trials of sample collection
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.
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.
| Arm | Type | Interventions | Description |
|---|---|---|---|
| sample collection | Other: sample collection | Each participant will have blood drawn for genetic analysis and for establishment of a lymphoblastoid cell line. |
Sex: All, ages: 1 Month to any, accepts healthy volunteers
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
| Facility | City | Country | Status |
|---|---|---|---|
| Nemours Children's Hospital Delaware | Wilmington, Delaware | United States | |
| Nemours Children's Specialty Care | Jacksonville, Florida | United States | |
| Nemours Children's Hospital Orlando | Orlando, Florida | United States |