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Phase 2 Study of EPI-743 for Treatment of Rett Syndrome

This study has been completed.
Information provided by (Responsible Party):
Edison Pharmaceuticals Inc Identifier:
First received: March 25, 2013
Last updated: August 3, 2015
Last verified: August 2015
Rett syndrome is a severe neurodevelopmental disorder that primarily affects female children. Rett syndrome is characterized by significant elevation in blood markers of oxidative stress. EPI-743 is a novel therapeutic with demonstrated efficacy and safety in the treatment of disorders characterized by oxidative stress. The purpose of this study is to examine the safety and efficacy of EPI-743 in a population of children with Rett syndrome.

Condition Intervention Phase
Rett Syndrome Drug: EPI-743 Phase 2

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
Official Title: A Phase 2A Randomized, Placebo Controlled Trial of EPI-743 in Children With Rett Syndrome

Resource links provided by NLM:

Further study details as provided by Edison Pharmaceuticals Inc:

Primary Outcome Measures:
  • Rett Syndrome Clinical Severity Sore [ Time Frame: Change at six months from baseline ]
    Measure of disease progression

Secondary Outcome Measures:
  • Oxidative Stress Biomarkers [ Time Frame: Change at six months from baseline ]
  • Head circumference [ Time Frame: Change at six months from baseline ]
  • Rett syndrome behavioral questionnaire [ Time Frame: Change at six months from baseline ]
  • PedsQL [ Time Frame: Change at six months from baseline ]
  • Number of Drug-related adverse and serious adverse events [ Time Frame: Six months ]
  • Respiratory Disturbance Index (RDI) [ Time Frame: Change at six months from baseline ]
    RDI will be determined on polysomnography study

Enrollment: 24
Study Start Date: January 2013
Study Completion Date: January 2014
Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Active Comparator: EPI-743 15 mg/kg
Subjects in this arm will receive EPI-743 at a dose of 15 mg/kg three times daily
Drug: EPI-743
Placebo Comparator: Placebo
Subjects in this arm will receive placebo at a volume equivalent to the volume of EPI-743 they would receive if in active group based on their weight


Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Diagnosis of Rett syndrome with disease stage 1-2
  • Abnormality of at least two disease biomarker levels
  • Confirmed MeCP2 mutation
  • Patient or patient's guardian able to consent and comply with protocol requirements
  • Abstention from use of Coenzyme Q10, vitamin E and Idebenone two weeks prior to enrollment into the study

Exclusion Criteria:

  • Any condition, which in the opinion of the investigator could compromise the subject's safety or adherence to treatment with EPI-743.
  • Clinically significant allergy or hypersensitivity to EPI-743 or to any of the excipients of with EPI-743 (eg., sesame oil).
  • Clinically significant allergy or hypersensitivity to Vitamin E
  • Lack of confirmation of MeCP2 mutation
  • Clinical history of bleeding or abnormal baseline PT/PTT
  • Diagnosis of any other concurrent inborn error of metabolism
  • Hepatic insufficiency with LFTs greater than 3 times upper limit of normal
  • Renal insufficiency requiring dialysis
  • End stage cardiac failure
  • Fat malabsorption syndromes precluding drug absorption
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01822249

University of Siena
Siena, Italy
Sponsors and Collaborators
Edison Pharmaceuticals Inc
  More Information

Responsible Party: Edison Pharmaceuticals Inc Identifier: NCT01822249     History of Changes
Other Study ID Numbers: OPBGC&RS_12_003
Study First Received: March 25, 2013
Last Updated: August 3, 2015

Keywords provided by Edison Pharmaceuticals Inc:
Rett syndrome

Additional relevant MeSH terms:
Rett Syndrome
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Growth Substances
Physiological Effects of Drugs processed this record on September 20, 2017