Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene

Cincinnati Children's Hospital Medical Center

Status

Completed

Conditions

Seizures

Autism Spectrum Disorder

Dystonia

Movement Disorders

NEDAMSS

Treatments

Other: No interventions are planned

Study type

Observational

Funder types

Other

Identifiers

NCT03892798

2018-6357

Details and patient eligibility

About

This protocol serves as a data collection tool for individuals with variants (missense, nonsense, frameshifts) in the IRF2BPL gene (MIM 611720), which causes Neurodevelopmental Regression, Seizures, Autism and Developmental Delay (NEDAMSS, MIM 618088) and may be involved in other neurodevelopmental presentations. This information will be analyzed to develop a better understanding of the findings and progression of symptoms in individuals with variants in the IRF2BPL gene.

Full description

Neurodevelopmental Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS) is caused by changes in the IRF2BPL gene. Variants in the gene can also lead to other neurodevelopmental presentations. Due to the limited number of cases that have been described to date, clinicians may have a limited understanding of what types of symptoms can develop in affected individuals and at what age. The purpose of the study is to gather clinical information about progression, treatments and outcomes for patients with variants in IRF2BPL. The investigators will collect information about medical history, growth, development, treatments and the results of previous genetic tests. In some cases, the investigators may also collect tissue samples. This is a non-interventional study that will expand the current understanding of the range of health concerns that can be seen in individuals with changes in the IRF2BPL gene by collecting medical information and samples from a larger group of affected individuals.

Enrollment

34 patients

Sex

All

Ages

2 months to 80 years old

Volunteers

No Healthy Volunteers

Inclusion criteria