Actively Recruiting
Longitudinal Study of Neurogenetic Disorders
Led by Columbia University · Updated on 2025-10-27
1000
Participants Needed
1
Research Sites
650 weeks
Total Duration
On this page
Sponsors
C
Columbia University
Lead Sponsor
S
Simons Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Longitudinal Study of Neurogenetic Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene.
You will not qualify if you...
- Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Columbia University Irving Medical Center
New York, New York, United States, 10032
Actively Recruiting
Research Team
J
Jennifer M. Bain, MD, PhD
CONTACT
J
Joanna Feng
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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