COMPLETED

Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Quick Facts

Study Start:2015-06
Study Completion:2024-12-18
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:COMPLETED

Study ID

NCT02532244

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Month
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Diagnosis of motor neuron/neuromuscular disease confirmed by neurologist
  2. * Be seen by one of the study investigators
  1. * not seen by one of the study investigators

Contacts and Locations

Principal Investigator

Matthew ER Butchbach, Ph.D.
PRINCIPAL_INVESTIGATOR
Nemours Children's Clinic

Study Locations (Sites)

Nemours Children's Hospital Delaware
Wilmington, Delaware, 19803
United States
Nemours Children's Specialty Care
Jacksonville, Florida, 32207
United States
Nemours Children's Hospital Orlando
Orlando, Florida, 32827
United States

Collaborators and Investigators

Sponsor: Nemours Children's Clinic

  • Matthew ER Butchbach, Ph.D., PRINCIPAL_INVESTIGATOR, Nemours Children's Clinic

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2015-06
Study Completion Date2024-12-18

Study Record Updates

Study Start Date2015-06
Study Completion Date2024-12-18

Terms related to this study

Keywords Provided by Researchers

  • distal hereditary motor neuronopathy

Additional Relevant MeSH Terms

  • 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