RecruitingPhase 2NCT04041713
Neurological
Rett Syndrome
Also known as MECP2 disorder, RTT, MECP2 duplication syndrome
Rett syndrome is caused almost exclusively by de novo mutations in the MECP2 gene on the X chromosome, making it the second most common genetic cause of intellectual disability in females. After 6-18 months of typical development, children
ORPHA:778 ↗Gene MECP2Prevalence 1-9 per 100,000 (Orphanet)Onset InfancyGenetic (X-linked, de novo in most cases)
15
studies recruiting now
as of 7 Sept 2026
101
studies registered in total
as of 7 Sept 2026
9
countries with a recruiting site
as of 7 Sept 2026
6 May 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 3NCT07503444
A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome
RecruitingNCT05432349
Rett Syndrome Registry
RecruitingNCT06705816
Cognitive Function in Rett Syndrome During Trofinetide Treatment
RecruitingNCT07569445
Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 15 recruiting 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.
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About Rett Syndrome
Rett syndrome is caused almost exclusively by de novo mutations in the MECP2 gene on the X chromosome, making it the second most common genetic cause of intellectual disability in females. After 6-18 months of typical development, children lose purposeful hand use and speech, develop stereotyped hand movements, breathing irregularities, seizures, and scoliosis. Trofinetide (Daybue) was approved in 2023 as the first treatment.
Common clinical features
Developmental regressionAbsent speechStereotypical hand wringingAbnormal pattern of respirationProgressive language deteriorationProgressive microcephalyAbnormal repetitive mannerismsSeizures
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 18 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Trofinetide (Daybue)
Phase 3Cannabidiol (Epidiolex)
Phase 3Blarcamesine Hydrochloride (Anavex)
Phase 3Risperidone (Okedi)
Phase 2/3Sarizotan
Phase 2Mecasermin (Bio-fd&c igf1)
Phase 2Lovastatin (Altoprev)
Phase 2Dextromethorphan
Phase 2Vatiquinone
+ 10 more in development
Before you apply
Things trial teams commonly ask about for Rett Syndrome. Not eligibility rules; those are set by each study.
- MECP2 mutation type (missense, truncating, deletion) affects eligibility in some precision trials
- Stage of Rett syndrome (I through IV) and presence of regression phase affect study design
- Age windows are often narrow in pediatric Rett trials - check eligibility promptly
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).