A Natural History Study of hnRNP-related Disorders
Last updated on July 2021Recruitment
- Recruitment Status
- Recruiting
- Estimated Enrollment
- Same as current
Summary
- Conditions
- Autism Spectrum Disorder
- Developmental Delay
- Hypertonia, Muscle
- Hypotonia
- Intellectual Disability
- Neurodevelopmental Disorders
- Seizures
- Design
- Observational Model: CohortTime Perspective: Prospective
Participation Requirements
- Age
- Younger than 125 years
- Gender
- Both males and females
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)...
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 variant in an hnRNP 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 a variant in any hnRNP gene. 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
Tracking Information
- NCT #
- NCT03492060
- Collaborators
- Simons Foundation
- Investigators
- Principal Investigator: Jennifer M. Bain, MD, PhD Columbia University