Clinical Trials & Databases

Rett Syndrome Clinical Trials

  • A Phase 2A Randomized, Placebo Controlled Trial of EPI-743 in Children with Rett Syndrome 
  • Safety Study of NNZ-2566 in Patients with Rett Syndrome
  • Treatment of Rett Syndrome With Recombinant Human IGF-1 (Mecasermin [rDNA]Injection)
  • Placebo-controlled Trial of Detromethorphan in Rett Syndrome
  • Autonomic Dysfunction and Seizures in Rett Syndrome
  • The Natural History of Osteopenia in Rett Syndrome
  • Biliary Tract Disease in Rett Syndrome

Rett Syndrome Natural History Study

The purpose of this natural history study is to establish a phenotype-genotype correlation over a broad spectrum of Rett syndrome phenotypes including the longitudinal pattern of progression of clinical features, quality of life, and longevity across this cohort.


IRSF MECP2 Variation Database

This database has been constructed by merging mutation and polymorphism data from the published literature pertaining to Rett syndrome and related clinical disorders, and by incorporating unpublished mutation and polymorphism data that have been submitted directly to us.


InterRett - the IRSF Rett Phenotype Database

This project collects information about the features of Rett syndrome from both parents and clinicians. These details are then collated to form an online searchable database. Output graphs are viewable by both parents and the research community. We encourage all families to contribute to this database.