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

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.

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Key information

Conditions

Autism Spectrum Disorder Central Nervous System Diseases Child Development Disorders, Pervasive Dyskinesias Dystonia Mental Disorders Movement Disorders NEDAMSS Nervous System Diseases Neurodevelopmental Disorders Neurologic Manifestations Pathological Conditions, Signs and Symptoms Seizures Signs and Symptoms

Age range

2 month–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Cincinnati Children's

Cincinnati, Ohio, 45229, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Living or deceased individuals with variants in the IRF2BPL gene

Exclusion criteria

None

Treatment and study plan

No interventions are planned

Other

No interventions are planned

Primary outcomes

Questionnaire

Time frame: 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 outcomes

Genotype-phenotype correlations

Time frame: 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.

Sponsors and collaborators

Lead sponsor

Children's Hospital Medical Center, Cincinnati

Other

Registry information

Acronym: IRF2BPL

Important dates

Study start: 2018
Primary completion: 2024
Study completion: 2024
First posted: Mar 27, 2019
Registry last updated: May 20, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed