NEDAMSS · IRF2BPL syndrome · OMIM #618088
NEDAMSS (Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures) is an ultra-rare disorder caused by pathogenic variants in the IRF2BPL gene. It can lead to developmental regression, seizures, abnormal movements, loss of speech, and other neurological symptoms. This site tracks the science and connects researchers, clinicians, and families. A dedicated section is available for families in Israel.
Enter a reported IRF2BPL change and see a family-friendly research summary: protein position, public ClinVar context when available, curated paper links, and the bundled 3D model. This is educational context, not medical interpretation or diagnosis.
IRF2BPL encodes a protein involved in transcriptional regulation and neuronal maintenance. Many patients carry de novo truncating variants, although missense and other variant types have also been reported. The first major clinical description was published by Marcogliese et al. in 2018, and the known cohort has continued to grow as genetic testing becomes more widely available.
Read the scienceAn investigational AAV9 gene therapy approach reached first-in-human N-of-1 treatment in 2025. Public sources describe a vector-based strategy intended to deliver a functional IRF2BPL coding sequence, not an approved treatment. Questions around access, eligibility, dosing, long-term safety, manufacturing, and regulatory pathways remain open.
See the latestWe're a small family-led project, not a research database. If IRF2BPL appears in a genetic report, or NEDAMSS appears in a medical note, and you want to talk, write to us — we'll answer what we can and help connect you with the right collaborators.
Get in touch