Following people with neurogenetic disorders over time through regular assessments
Studies people with hnRNP gene changes and related brain and nerve conditions over time.
Plain-language title generated from the registry record
Registry title: Longitudinal Study of Neurogenetic Disorders
Key facts
- Where
- New York, United StatesSee the site
Where in United States
- Columbia University Irving Medical CenterNew York, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Columbia University
- Trial code
- NCT03492060
- Record updated
- 27 October 2025
- Original description
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.Read full original descriptionShow less
Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies
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.
Inclusion: Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene.
Exclusion: Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.