MedTrace Logo

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

NCT03892798 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 34

Last updated 2024-05-20

No results posted yet for this study

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.

Conditions

Interventions

OTHER

No interventions are planned

No interventions are planned

Sponsors & Collaborators

  • Children's Hospital Medical Center, Cincinnati

    lead OTHER

Eligibility

Min Age
2 Months
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-11-27
Primary Completion
2024-05-17
Completion
2024-05-17

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03892798 on ClinicalTrials.gov