Recruiting

Observational Study

Sponsor:

Columbia University

Code:

NCT03492060

Conditions

Neurodevelopmental Disorders

Intellectual Disability

Developmental Delay

Autism Spectrum Disorder

Seizures

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Neurodevelopmental Disorders

Intellectual Disability

Developmental Delay

Autism Spectrum Disorder

Seizures

Study ID

NCT03492060

Start date

Jun 13, 2018

Status verified date

Oct, 2025

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

Variant in a hnRNP gene

Individuals with a variant in any hnRNP gene who present with neurodevelopmental abnormalities are eligible for the study.

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 ]
  • Education-based impairments associated with genetic variants [ Time Frame: 5 years ]
  • Repetitive Behavior [ Time Frame: 5 years ]
  • Sleep Habits [ Time Frame: 5 years ]
  • Sensory Issues [ Time Frame: 5 years ]
  • Social Interaction and Communication SRS-II Score [ Time Frame: 5 years ]
  • Anxiety [ Time Frame: 5 years ]
  • Receptive Language Skills [ Time Frame: 5 years ]
  • Executive Functioning [ Time Frame: 5 years ]
  • Autism [ Time Frame: 5 years ]
  • Adaptive Behavior [ Time Frame: 5 years ]
  • Social Interaction and Communication SCQ Score [ Time Frame: 5 years ]
  • Emotional Regulation [ Time Frame: 5 years ]
  • Motor Performance [ Time Frame: 5 years ]
  • Function in Daily Activities, Mobility, Social and Cognitive, and Responsibility [ Time Frame: 5 years ]
  • Functional Balance [ Time Frame: 5 years ]
  • Functional Capability and Mobility [ Time Frame: 5 years ]
  • Coordination and Gait [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Jennifer M. Bain, MD, PhD

646-426-3876jb3634@cumc.columbia.edu

Joanna Feng

jlf2218@cumc.columbia.edu

Locations

Columbia University Irving Medical Center

Recruiting

New York, New York, United States, 10032

Contacts

Study Team

hnrnp@columbia.edu

Joanna Feng

jlf2218@cumc.columbia.edu

More Information

Sponsor

Columbia University

Last update posted

Oct 27, 2025

Last verified

Oct, 2025

Keywords

  • Gene Variant
  • HNRNPA1
  • HNRNPA2
  • HNRNPB1
  • HNRNPC1
  • HNRNPC2
  • HNRNPD
  • HNRNPE1
  • HNRNPE2
  • HNRNPE3
  • HNRNPE4
  • HNRNPG
  • HNRNPH1
  • HNRNPH2
  • HNRNPI
  • HNRNPK
  • HNRNPL
  • HNRNPM
  • HNRNPP
  • HNRNPQ1
  • HNRNPQ2
  • HNRNPQ3
  • HNRNPR
  • HNRNPU

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Columbia University on 2025-10-27.