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Completed

NCT Number: NCT01822249

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

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.

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Key information

Conditions

Rett Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations X-Linked Intellectual Disability

Age range

Up to 18 year

Sex eligibility

Female

Study type

Interventional

Phase

Phase 2

Primary location

University of Siena

Siena, Italy

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

EPI-743

Drug

Placebo

Drug

Primary outcomes

  1. Rett Syndrome Clinical Severity Sore

    Time frame: Change at six months from baseline

    Measure of disease progression

Secondary outcomes

  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

Sponsors and collaborators

Lead sponsor

Edison Pharmaceuticals Inc

Industry

Registry information

Official study title

A Phase 2A Randomized, Placebo Controlled Trial of EPI-743 in Children With Rett Syndrome

Important dates

Study start
2013
Primary completion
2013
Study completion
2014
First posted
Apr 2, 2013
Registry last updated
Jul 26, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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