RecruitingNCT06585605
Neurological
FOXG1 Syndrome
Also known as Congenital Rett syndrome variant, FOXG1 encephalopathy, FOXG1 haploinsufficiency
FOXG1 syndrome is caused by mutations or deletions in FOXG1 encoding forkhead box G1, a transcriptional repressor essential for brain development. Clinical features include congenital or early-onset microcephaly, severe intellectual disabil
ORPHA:329314 ↗Gene FOXG1Prevalence 1-9 per 100,000 (Orphanet)Onset InfantileAutosomal dominant genetic (de novo in most cases)
2
studies recruiting now
as of 7 Sept 2026
7
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
13 May 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT06967727
Registry and Natural History of Epilepsy-Dyskinesia Syndromes
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
Search all FOXG1 Syndrome studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new FOXG1 Syndrome study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: FOXG1 Research Foundation Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About FOXG1 Syndrome
FOXG1 syndrome is caused by mutations or deletions in FOXG1 encoding forkhead box G1, a transcriptional repressor essential for brain development. Clinical features include congenital or early-onset microcephaly, severe intellectual disability, absent speech, stereotyped hand movements, dyskinesias, and seizures. Unlike classic Rett syndrome, FOXG1 syndrome has an earlier onset and more severe phenotype due to FOXG1's critical role in forebrain development rather than synaptic maintenance.
Common clinical features
Severe intellectual disabilityAbsent speechStereotyped hand movements and dyskinesiasMicrocephalySeizuresHypotoniaCortical visual impairment
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for FOXG1 Syndrome. Not eligibility rules; those are set by each study.
- FOXG1 pathogenic variant (deletion via array CGH or point mutation by sequencing) must be confirmed for all trials
- Brain MRI showing simplified gyral pattern, corpus callosum hypoplasia, or delayed myelination is characteristic — provide imaging documentation
- Movement disorder assessment (dyskinesia type, frequency, severity) is a distinct outcome measure from seizure frequency
- FOXG1 is distinct from MECP2-related Rett syndrome — genetic confirmation avoids misclassification in Rett-specific trials
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).