RecruitingNCT03492060

Longitudinal Study of Neurogenetic Disorders

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


Sponsor

Columbia University

Enrollment

1,000 participants

Start Date

Jun 13, 2018

Study Type

OBSERVATIONAL

Conditions

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

Inclusion Criteria1

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

Exclusion Criteria1

  • Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.

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Locations(1)

Columbia University Irving Medical Center

New York, New York, United States

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NCT03492060


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