Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1000 participants
OBSERVATIONAL
2018-06-13
2030-12-31
Brief Summary
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Detailed Description
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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
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Variant in a hnRNP gene
Individuals with a variant in any hnRNP gene who present with neurodevelopmental abnormalities are eligible for the study.
No interventions assigned to this group
Variant in other gene
Individuals with a confirmed variant in other genes who present with neurodevelopmental abnormalities are eligible for the study.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
ALL
No
Sponsors
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Simons Foundation
OTHER
New York University
OTHER
Hackensack Meridian Health
OTHER
Universitätsklinikum Hamburg-Eppendorf
OTHER
Columbia University
OTHER
Responsible Party
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Principal Investigators
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Jennifer M. Bain, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Columbia University
Locations
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Columbia University Irving Medical Center
New York, New York, United States
Countries
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Central Contacts
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Facility Contacts
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References
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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.
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.
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.
Related Links
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Original HNRNPH2 genetic cohort website
Other Identifiers
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AAAR7203
Identifier Type: -
Identifier Source: org_study_id
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