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

Sponsor

Children's Hospital Medical Center, Cincinnati (Other)

Overall Status

Recruiting

CT.gov ID

NCT03892798

Collaborator

(none)

100

Enrollment

Location

252.1

Anticipated Duration (Months)

0.4

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Autism Spectrum Disorder Movement Disorders Seizures Dystonia NEDAMSS	Other: No interventions are planned

Detailed 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.

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

100 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

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

Actual Study Start Date :

Nov 27, 2018

Anticipated Primary Completion Date :

Dec 1, 2038

Anticipated Study Completion Date :

Dec 1, 2039

Outcome Measures

Primary Outcome Measures

Questionnaire [Throughout study completion, with the assessment completed on average once per year.]
The investigators will collect information regarding age at development of symptoms, age at diagnosis, method for diagnosis, specific mutations detected, additional complications with age at onset and treatment.

Secondary Outcome Measures

Genotype-phenotype correlations [Throughout study completion, with the assessment completed on average once per year.]
The investigators will assess for correlations between the type of variant in the IRF2BPL gene, the location of the variant, and the clinical presentation and symptoms.