Longitudinal Study of Neurogenetic Disorders

Columbia University

Status: Enrolling

Conditions: Seizures; Hypertonia, Muscle; Hypotonia; Autism Spectrum Disorder; Neurodevelopmental Disorders; Developmental Delay; Intellectual Disability

Study type: Observational

Funder types: Other

Identifiers

NCT03492060

AAAR7203

Details and patient eligibility

About

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.

Full 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

Enrollment: 1,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

1,000 participants in 2 patient groups

Variant in a hnRNP gene

Description:

Individuals with a variant in any hnRNP gene who present with neurodevelopmental abnormalities are eligible for the study.

Variant in other gene

Description:

Individuals with a confirmed variant in other genes who present with neurodevelopmental abnormalities are eligible for the study.