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Longitudinal Study of Neurogenetic Disorders
Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies
Who can join
All ages · All sexes
Full eligibility criteria
Inclusion Criteria: * Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene. Exclusion Criteria: * Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.
About the study
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.
Sponsor: Columbia University · Participants: 1,000 · Started: Jun 13, 2018
Contact the study team
- Jennifer M. Bain, MD, PhD · Phone: 646-426-3876
Official record on ClinicalTrials.gov — NCT03492060
Locations in the U.S.
| New York | Columbia University Irving Medical Center, New York |
Conditions
From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.