RECRUITING

Longitudinal Study of Neurogenetic Disorders

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 purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.

Official Title

Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies

Quick Facts

Study Start:2018-06-13
Study Completion:2030-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT03492060

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:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene.
  1. * Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.

Contacts and Locations

Study Contact

Jennifer M. Bain, MD, PhD
CONTACT
646-426-3876
jb3634@cumc.columbia.edu
Joanna Feng
CONTACT
jlf2218@cumc.columbia.edu

Principal Investigator

Jennifer M. Bain, MD, PhD
PRINCIPAL_INVESTIGATOR
Columbia University

Study Locations (Sites)

Columbia University Irving Medical Center
New York, New York, 10032
United States

Collaborators and Investigators

Sponsor: Columbia University

  • Jennifer M. Bain, MD, PhD, PRINCIPAL_INVESTIGATOR, Columbia University

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 Date2018-06-13
Study Completion Date2030-12

Study Record Updates

Study Start Date2018-06-13
Study Completion Date2030-12

Terms related to this study

Keywords Provided by Researchers

  • Gene Variant
  • HNRNPA1
  • HNRNPA2
  • HNRNPB1
  • HNRNPC1
  • HNRNPC2
  • HNRNPD
  • HNRNPE1
  • HNRNPE2
  • HNRNPE3
  • HNRNPE4
  • HNRNPG
  • HNRNPH1
  • HNRNPH2
  • HNRNPI
  • HNRNPK
  • HNRNPL
  • HNRNPM
  • HNRNPP
  • HNRNPQ1
  • HNRNPQ2
  • HNRNPQ3
  • HNRNPR
  • HNRNPU

Additional Relevant MeSH Terms

  • Neurodevelopmental Disorders
  • Intellectual Disability
  • Developmental Delay
  • Autism Spectrum Disorder
  • Seizures
  • Hypertonia, Muscle
  • Hypotonia