Longitudinal Study of Neurogenetic Disorders

Part of paid clinical trials in New York, New York.

Sponsor
Columbia University
Study ID
NCT03492060
Status
Recruiting
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Conditions

  • Autism Spectrum Disorder
  • Developmental Delay
  • Hypertonia, Muscle
  • Hypotonia
  • Intellectual Disability
  • Neurodevelopmental Disorders
  • Seizures

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Jun 13, 2018
Status verified
Oct 2025
Primary completion
Dec 31, 2030
Completion
Dec 31, 2030

Study Design

Enrollment
1,000 participants (estimated)

Arms

  • Arm: Variant in a hnRNP gene
    Individuals with a variant in any hnRNP gene who present with neurodevelopmental abnormalities are eligible for the study.
  • Arm: Variant in other gene
    Individuals with a confirmed variant in other genes who present with neurodevelopmental abnormalities are eligible for the study.

Primary Outcome Measure

Medical abnormalities associated with genetic variants [ Time Frame: 5 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Columbia University Irving Medical CenterNew YorkNew York10032
Joanna Feng
[email protected]

Find similar trials in New York, NY

By condition
Autism spectrum disorder
By specialty
Pediatrics
By research site
Columbia University Irving Medical Center· New York, NY

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