Longitudinal Study of Neurogenetic Disorders
Recruiting
Observational Study
Neurodevelopmental Disorders
Intellectual Disability
Developmental Delay
Autism Spectrum Disorder
Seizures
Hypertonia, Muscle
Hypotonia
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 1,000 (estimated)
- Sponsor
- Columbia University · Other
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About This Trial
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 questionnai…
Trial Locations
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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.
Contacts