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Recruiting NCT03492060

Longitudinal Study of Neurogenetic Disorders

— Observational Neurodevelopmental Disorders Intellectual Disability Developmental Delay Autism Spectrum Disorder

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Neurodevelopmental Disorders, Intellectual Disability, Developmental Delay, Autism Spectrum Disorder. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

Overview

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.

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

Primary outcome measures

  • 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]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 1 center
  • Columbia University Irving Medical Center — New York

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. PMID 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: PMID 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. PMID 39220267

Identifiers

NCT: NCT03492060 · AAAR7203

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗