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Neurodevelopmental DisordersNCT03492060

Longitudinal Study of Neurogenetic Disorders

An observational study of Neurodevelopmental Disorders and Intellectual Disability, run by Columbia University at 1 site in United States.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial 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. Read more about this study

Who is it for?
Any age
How many people
1,000 participants
Where
1 siteUnited States
Study dates
13 Jun 2018to Dec 2030
How long will I take part?
5 Years
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: Individuals who have already undergone genetic testing and carry a variant in any gene. Individuals will often present with neurological abnormalities, although the absence of symptoms is not exclusion criterion for the study. International subjects are welcome to enroll if eligibility criteria is met.

Who may be able to join

  • Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene.

Who cannot join

  • Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Jennifer M. Bain, MD, PhD contact

646-426-3876

jb3634@cumc.columbia.edu

Joanna Feng contact

jlf2218@cumc.columbia.edu

United States1 site, 1 recruiting
  • Columbia University Irving Medical Center

    New York, New York, 10032

    Study Team, hnrnp@columbia.edu

    Joanna Feng, jlf2218@cumc.columbia.edu

    Recruiting

Other trials in United States

About this study

Official title: 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.

Read the detailed description

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

Keywords
Gene Variant, HNRNPA1, HNRNPA2, HNRNPB1, HNRNPC1, HNRNPC2, HNRNPD, HNRNPE1, HNRNPE2, HNRNPE3, HNRNPE4, HNRNPG, HNRNPH1, HNRNPH2, HNRNPI, HNRNPK, HNRNPL, HNRNPM, HNRNPP, HNRNPQ1
Medical subject headings
Neurodevelopmental Disorders, Intellectual Disability, Learning Disabilities, Autism Spectrum Disorder, Seizures, Muscle Hypertonia, Muscle Hypotonia

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT03492060
Study groupRoleWhat they receive
Variant in a hnRNP geneIndividuals with a variant in any hnRNP gene who present with neurodevelopmental abnormalities are eligible for the study.
Variant in other geneIndividuals with a confirmed variant in other genes who present with neurodevelopmental abnormalities are eligible for the study.

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Medical abnormalities associated with genetic variants

    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.

    Measured: 5 years

  2. Education-based impairments associated with genetic variants

    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.

    Measured: 5 years

  3. Repetitive Behavior

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

    Measured: 5 years

  4. Sleep Habits

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

    Measured: 5 years

  5. Sensory Issues

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

    Measured: 5 years

  6. Social Interaction and Communication SRS-II Score

    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)

    Measured: 5 years

  7. Anxiety

    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)

    Measured: 5 years

  8. Receptive Language Skills

    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)

    Measured: 5 years

  9. Executive Functioning

    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)

    Measured: 5 years

  10. Autism

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

    Measured: 5 years

  11. Adaptive Behavior

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

    Measured: 5 years

  12. Social Interaction and Communication SCQ Score

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

    Measured: 5 years

  13. Emotional Regulation

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

    Measured: 5 years

  14. Motor Performance

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

    Measured: 5 years

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

    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)

    Measured: 5 years

  16. Functional Balance

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

    Measured: 5 years

  17. Functional Capability and Mobility

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

    Measured: 5 years

  18. Coordination and Gait

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

    Measured: 5 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted10 Apr 2018
  2. Study start13 Jun 2018
  3. Primary completionDec 2030 (estimated)
  4. Study completionDec 2030 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
1,000 participants (estimated)
Target duration
5 Years
IDs, dates and publications
ClinicalTrials.gov ID
NCT03492060
Sponsor's protocol ID
AAAR7203
Status last verified
Oct 2025
First submitted
2 Apr 2018
Last updated
27 Oct 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Yes: De-identified individual participant data will be shared with the Simons Foundation. This is applicable only to participants dually enrolled in both studies (as stipulated in the consent process). Individual data for all primary and secondary outcome measures will be made available. Subject data will also be shared with affiliated institutions for relevant genotypes, as outlined in the consent process.

Publications

  • Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016 Sep 1;99(3):728-734. doi: 10.1016/j.ajhg.2016.06.028. Epub 2016 Aug 18.

    PubMed 27545675
  • Bain JM, Thornburg O, Pan C, Rome-Martin D, Boyle L, Fan X, Devinsky O, Frye R, Hamp S, Keator CG, LaMarca NM, Maddocks ABR, Madruga-Garrido M, Niederhoffer KY, Novara F, Peron A, Poole-Di Salvo E, Salazar R, Skinner SA, Soares G, Goldman S, Chung WK. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. Neurol Genet. 2021 Jan 29;7(1):e551. doi: 10.1212/NXG.0000000000000551. eCollection 2021 Feb.

    PubMed 33728377
  • Davis TJ, Salazar R, Beenders S, Boehme A, LaMarca NM, Bain JM. A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals with HNRNPH2-related Neurodevelopmental Disorder. Adv Neurodev Disord. 2024;8(3):445-456. doi: 10.1007/s41252-023-00346-1. Epub 2023 Aug 7.

    PubMed 39220267

Questions about this trial

What is this clinical trial studying?

An observational study of Neurodevelopmental Disorders and Intellectual Disability, run by Columbia University at 1 site in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 27 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Jennifer M. Bain, MD, PhD (646-426-3876, jb3634@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Medical abnormalities associated with genetic variants (time frame: 5 years). The study lists 18 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03492060, which also lists 3 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Oct 2025.

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