RecruitingPhase 1 / Phase 2NCT07135050
Neurological
Pitt-Hopkins Syndrome
Also known as PTHS, TCF4 haploinsufficiency, Pitt-Hopkins-like syndrome
Pitt-Hopkins syndrome is a neurodevelopmental disorder caused by haploinsufficiency of TCF4 (transcription factor 4), encoding a basic helix-loop-helix transcription factor involved in brain development. Clinical features include intellectu
ORPHA:2896 ↗Gene TCF4Prevalence 1-9 per 100,000 (Orphanet)Onset Infantile, ChildhoodAutosomal dominant genetic (de novo in most cases)
3
studies recruiting now
as of 7 Sept 2026
8
studies registered in total
as of 7 Sept 2026
4
countries with a recruiting site
as of 7 Sept 2026
2 Sept 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1NCT07150026
An Exploratory Evaluation of the Safety and Efficacy of Vorinostat in Pitt Hopkins Syndrome
RecruitingNCT01793168
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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 Pitt-Hopkins Syndrome
Pitt-Hopkins syndrome is a neurodevelopmental disorder caused by haploinsufficiency of TCF4 (transcription factor 4), encoding a basic helix-loop-helix transcription factor involved in brain development. Clinical features include intellectual disability, absence or severe impairment of speech, distinctive facial features (wide mouth, prominent nasal bridge, widely spaced teeth), breathing abnormalities (episodic hyperventilation followed by apnea), epilepsy, and behavioral features overlapping with autism spectrum disorder.
Common clinical features
Severe intellectual disabilityAbsent or limited speechBreathing abnormalities (episodic hyperventilation/apnea)Distinctive facial featuresSeizuresAutism spectrum featuresConstipation
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
4 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Nnz-2591
Phase 2Vancomycin
Phase 2Magnesium Citrate (Citramag)
Phase 1Vorinostat (Zolinza)
Before you apply
Things trial teams commonly ask about for Pitt-Hopkins Syndrome. Not eligibility rules; those are set by each study.
- TCF4 pathogenic variant (deletion, truncating mutation, or missense) confirmed by array CGH or sequencing is required
- Breathing pattern documentation (episodic hyperventilation/apnea) is a diagnostic feature — overnight oximetry may be required
- Communication and adaptive behavior assessments (Vineland, DEAP, non-verbal cognitive measures) are required baseline tools
- Pitt-Hopkins-like syndromes (CNTNAP2, NRXN1) are genetically distinct — specific TCF4 confirmation avoids misclassification in 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).