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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01822249
Recruitment Status : Completed
First Posted : April 2, 2013
Last Update Posted : July 26, 2018
Information provided by (Responsible Party):
Edison Pharmaceuticals Inc

Brief Summary:
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 or disease Intervention/treatment Phase
Rett Syndrome Drug: EPI-743 Drug: Placebo Phase 2

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 24 participants
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
Study Start Date : January 2013
Actual Primary Completion Date : December 2013
Actual Study Completion Date : January 2014

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Rett Syndrome

Arm Intervention/treatment
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
Drug: Placebo

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

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

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01822249

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University of Siena
Siena, Italy
Sponsors and Collaborators
Edison Pharmaceuticals Inc
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Responsible Party: Edison Pharmaceuticals Inc Identifier: NCT01822249    
Other Study ID Numbers: OPBGC&RS_12_003
First Posted: April 2, 2013    Key Record Dates
Last Update Posted: July 26, 2018
Last Verified: July 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Edison Pharmaceuticals Inc:
Rett syndrome
Additional relevant MeSH terms:
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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