A Natural History Study of hnRNP and Other Gene-related Disorders

Status: Recruiting
Location: See location...
Study Type: Observational [Patient Registry]
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: No
View:

• Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene.

Locations
United States
New York
Columbia University Irving Medical Center
Recruiting
New York
Contact Information
Primary
Jennifer M. Bain, MD, PhD
jb3634@cumc.columbia.edu
646-426-3876
Backup
Joanna Feng
jlf2218@cumc.columbia.edu
Time Frame
Start Date: June 13, 2018
Estimated Completion Date: April 2024
Participants
Target number of participants: 1000
Treatments
Variant in a hnRNP gene
Individuals with a variant in any hnRNP gene who present with neurodevelopmental abnormalities are eligible for the study.
Variant in other gene
Individuals with a confirmed variant in other genes who present with neurodevelopmental abnormalities are eligible for the study.
Authors
Jennifer M. Bain, Wendy K. Chung
Sponsors
Collaborators: Hackensack Meridian Health, Universitätsklinikum Hamburg-Eppendorf, New York University, Simons Foundation
Leads: Columbia University

This content was sourced from clinicaltrials.gov

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