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NCT Number: NCT03492060

Longitudinal Study of Neurogenetic Disorders

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.

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Key information

Conditions

Neurodevelopmental Disorders Autism Spectrum Disorder Child Development Disorders, Pervasive Communication Disorders Developmental Delay Hypertonia, Muscle Hypotonia Intellectual Disability Learning Disabilities Mental Disorders Muscle Hypertonia Muscle Hypotonia Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Neuromuscular Manifestations Pathological Conditions, Signs and Symptoms Seizures Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

Columbia University Irving Medical Center

New York, 10032, United States

Location status: Recruiting

Location contact

Joanna Feng

CONTACT

[email protected]

Study Team

CONTACT

[email protected]

About this study

Neurodevelopmental disorders are a group of disorders in which the development of the central nervous system is disturbed. The genetic basis for many neurodevelopmental disorders has continued to expand and a recent gene called HNRNPH2 (Heterogeneous Nuclear Ribonucleoprotein H2, encoded by HNRNPH2) is one such gene that is associated with a common neurodevelopmental disorder characterized by developmental delay, intellectual disability, autism and autistic features, and tone abnormalities, among other multisystem problems.

The investigators will expand the genetic cohort to include any individual with a confirmed variant in any gene presenting with neurodevelopmental abnormalities. This is non-interventional study that examines both data previously used in clinical practice and prospective data collection in the form of questionnaires and assessments. The investigators will examine patterns of initial presentation, patterns in neurological evaluations; neurological testing including brain MRI and electroencephalography, and outcomes in individuals with genetic variants.

Genes of Focus:

hnRNPA1 hnRNPA2 hnRNPB1 hnRNPB2 hnRNPC2 hnRNPD hnRNPE1 hnRNPE2 hnRNPE3 hnRNPE4 hnRNPG hnRNPH1 hnRNP H2 hnRNPI hnRNPK hnRNPL hnRNPM hnRNPP hnRNPQ1 hnRNPQ2 hnRNPQ3 hnRNPR hnRNPU

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Medical abnormalities associated with genetic variants

    Time frame: 5 years

    Gene variants are known to result in a variety of clinical phenotypes. The study is intended to accrue data from medical records that document the range of neurological phenotypes and explore their incidence and frequency across genetic cohorts.

  2. Education-based impairments associated with genetic variants

    Time frame: 5 years

    The study seeks to collect records from the schools attended by participants; including: Individualized Education Programs (IEPs) and school records. We intend to use these records, in tandem with medical records, to explore meaningful statistical and clinical relationships in the phenotypes expressed by the population of the study.

  3. Repetitive Behavior

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and repetitive behavior (measured by the Repetitive Behavior Scale - Revised; RBS-R)

  4. Sleep Habits

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and sleep habits (measured by The Children's Sleep Habits Questionnaire; CSHQ)

  5. Sensory Issues

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and sensory issues (measured by The Short Sensory Profile; SSP)

  6. Social Interaction and Communication SRS-II Score

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and social interaction and communication issues (measured by The Social Responsiveness Scale - Second Edition; SRS-II)

  7. Anxiety

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and anxiety (measured by The Spence Children's Anxiety Scale - Preschool and Parent Reports; SCAS - Preschool and SCAS - P)

  8. Receptive Language Skills

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and receptive language skills (measured by a 20-item music exposure questionnaire evaluating exposure on a 3-point scale: rarely, sometimes, often; and an EEG with music paradigm)

  9. Executive Functioning

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and executive functioning (measured by The Behavior Rating Inventory of Executive Function - Parent Report; BRIEF-P)

  10. Autism

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and autism (measured by The Childhood Autism Rating Scale; CARS)

  11. Adaptive Behavior

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and adaptive behavior (measured by The Vineland Adaptive Behavior Scales, Third Edition; Vineland - 3)

  12. Social Interaction and Communication SCQ Score

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and social interaction and communication issues (measured by The Social Communication Questionnaire; SCQ)

  13. Emotional Regulation

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and emotional regulation (measured by The Behavioral Assessment System for Children - Third Edition; BASC - 3)

  14. Motor Performance

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and motor performance (measured by The Movement Assessment Battery for Children - Second Edition; MASC-II)

  15. Function in Daily Activities, Mobility, Social and Cognitive, and Responsibility

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and functional capability in daily activities and mobility (measured by The Pediatric Evaluation of Disability Inventory Computer Adaptive Test; PEDI-CAT)

  16. Functional Balance

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and functional balance and gross motor function (measured by a 14-item Pediatric Balance Scale)

  17. Functional Capability and Mobility

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and functional mobility (measured by an 11-point Movement Questionnaire)

  18. Coordination and Gait

    Time frame: 5 years

    Correlations (r) between mutant allele (obtained from retrospective data) and gait (measured by a Kinematic Evaluation utilizing Solesound Pedishoe Sandals and GaitRite Walkway)

Study contacts

Contact information is provided by the study sponsor or research team.

Jennifer M. Bain, MD, PhD

CONTACT

[email protected]

646-426-3876

Joanna Feng

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

Columbia University

Other

Collaborators

  • Hackensack Meridian Health
  • New York University
  • Simons Foundation
  • Universitätsklinikum Hamburg-Eppendorf

Registry information

Official study title

Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies

Important dates

Study start
2018
Primary completion
2030
Study completion
2030
First posted
Apr 10, 2018
Registry last updated
Oct 27, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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