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RecruitMe Clinical Trial

A natural history study of HNRNP-related disorders
A natural history study of HNRNP-related disorders
Sponsor:NA
Enrolling:Male and Female Patients
Study Length:5 Years
IRB Number:AAAR7203
U.S. Government ID:NCT03492060
Contact: Olivia Thornburg: 347-802-5314 / ost2103@cumc.columbia.edu
Additional Study Information:

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 (Bain et al., 2016). The investigators have expanded the genetic cohort to include individuals with a variant in any hnRNP gene presenting with neurodevelopmental abnormalities. This is a 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 hnRNP 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

Do You Qualify?
Have you or your child had whole genome/exome sequencing?YesNo
Do you or your child have a confirmed variant in the HNRNPH2 gene?YesNo
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Place Holder




Who Can I Contact?
For more information, please contact:
Olivia Thornburg
Email: ost2103@cumc.columbia.edu
Phone: 347-802-5314