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

Brief summary (registry, in English)

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.

What you commit to

• Study type: Observational
• Participants enrolled: 34
• From 27 Nov 2018 to the primary completion date, 17 May 2024
• 1 site in 1 country
• Visits and tests: ask the trial team, the registry does not list them

Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.

Who cannot take part

Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.

Who the study is looking for

Age in the registry: 2 months to 80 years · Sex: All · Does not accept healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (1)

Sites in registry order. Pick your city on the disease page to sort them by distance.