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

Completed

Conditions studied: Autism Spectrum Disorder, Movement Disorders, Seizures, Dystonia, NEDAMSS

In brief

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.

Key facts

Study ID

NCT03892798

Run by

Children's Hospital Medical Center, Cincinnati

People needed

34

Starts

2018-11-27

Expected to finish

2024-05-17

Last updated by the study team

2024-05-20

Who can join

Age: 0 and older, up to 80. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Living or deceased individuals with variants in the IRF2BPL gene

You may not qualify if…

• None

Where it is running

• Cincinnati Children's — Cincinnati, Ohio, United States

Full record on ClinicalTrials.gov

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