An observational study in Neurodevelopmental Disorders, Intellectual Disability and Developmental Delay, sponsored by Columbia University. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2025-10-27.
Sponsored by Columbia University · Observational
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.
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
352 studies on the registry are indexed under Neurodevelopmental Disorders; 141 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 200 across 133 observational studies indexed under Neurodevelopmental Disorders.
Browse Neurodevelopmental Disorders studies →Columbia University is the lead sponsor of 1,136 studies on the registry; 195 are open to participants now.
Of its 180 completed or terminated interventional studies of FDA-regulated products, 148 (82%) have results posted.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Individuals with a variant in any hnRNP gene who present with neurodevelopmental abnormalities are eligible for the study.
Individuals with a confirmed variant in other genes who present with neurodevelopmental abnormalities are eligible for the study.
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.
Time frame: 5 years
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.
Time frame: 5 years
Repetitive Behavior
Correlations (r) between mutant allele (obtained from retrospective data) and repetitive behavior (measured by the Repetitive Behavior Scale - Revised; RBS-R)
Time frame: 5 years
Sleep Habits
Correlations (r) between mutant allele (obtained from retrospective data) and sleep habits (measured by The Children's Sleep Habits Questionnaire; CSHQ)
Time frame: 5 years
Sensory Issues
Correlations (r) between mutant allele (obtained from retrospective data) and sensory issues (measured by The Short Sensory Profile; SSP)
Time frame: 5 years
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)
Time frame: 5 years
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)
Time frame: 5 years
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)
Time frame: 5 years
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)
Time frame: 5 years
Autism
Correlations (r) between mutant allele (obtained from retrospective data) and autism (measured by The Childhood Autism Rating Scale; CARS)
Time frame: 5 years
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)
Time frame: 5 years
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)
Time frame: 5 years
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)
Time frame: 5 years
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)
Time frame: 5 years
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)
Time frame: 5 years
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)
Time frame: 5 years
Functional Capability and Mobility
Correlations (r) between mutant allele (obtained from retrospective data) and functional mobility (measured by an 11-point Movement Questionnaire)
Time frame: 5 years
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)
Time frame: 5 years
Plan to share: 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.
Supporting information: Study protocol, Statistical analysis plan, Informed consent form, Clinical study report, Analytic code
Time frame: Data will be available per request as it is accrued throughout the course of the study.
Access criteria: Data access requests will be reviewed by the PI and study team. Requestors will be required to sign a data access agreement.
Data sharing details ↗ · simonsfoundation.org
Started Jun 2018 (actual). Primary completion is estimated for Dec 2030, 150 months after the start.
Of 67 non-industry observational studies under Neurodevelopmental Disorders, half reached primary completion within 59 months of starting (the median), counting those still running; a quarter within 32 and three quarters within 101. This study's planned 150 months is above that.
Counting every sponsor, half of 70 studies reached it within 59 months; a quarter within 32 and three quarters within 101.
How these figures are worked out, and which studies are left out of them.
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Neurodevelopmental Disorders →