Longitudinal Study of Neurogenetic Disorders
NCT03492060 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000
Last updated 2025-10-27
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.
Conditions
- Neurodevelopmental Disorders
- Intellectual Disability
- Developmental Delay
- Autism Spectrum Disorder
- Seizures
- Hypertonia, Muscle
- Hypotonia
Sponsors & Collaborators
-
Simons Foundation
collaborator OTHER -
New York University
collaborator OTHER -
Hackensack Meridian Health
collaborator OTHER -
Universitätsklinikum Hamburg-Eppendorf
collaborator OTHER - lead OTHER
Principal Investigators
-
Jennifer M. Bain, MD, PhD · Columbia University
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2018-06-13
- Primary Completion
- 2030-12-31
- Completion
- 2030-12-31
Countries
- United States
Study Locations
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