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

NCT01822249 | Completed Phase 2

• 1 other identifier: OPBGC&RS_12_003
• Study Type: interventional
• Target: 24
• Locations: 1 country
• Sites: 1

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.

Conditions

Rett Syndrome

Keywords

Rett syndrome; EPI-743; Edison

Outcome Measures

Primary Outcomes (1)

• Rett Syndrome Clinical Severity Sore

  Measure of disease progression

  Change at six months from baseline

Secondary Outcomes (6)

• Oxidative Stress Biomarkers

  Change at six months from baseline

• Head circumference

  Change at six months from baseline

• Rett syndrome behavioral questionnaire

  Change at six months from baseline

• PedsQL

  Change at six months from baseline

• Number of Drug-related adverse and serious adverse events

  Six months

Study Arms (2)

EPI-743 15 mg/kg

ACTIVE COMPARATOR

Subjects in this arm will receive EPI-743 at a dose of 15 mg/kg three times daily

Drug: EPI-743

Placebo

PLACEBO COMPARATOR

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

Interventions

EPI-743 DRUG

EPI-743 15 mg/kg

Placebo DRUG

Placebo

Eligibility Criteria

• Age: Up to 18 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Edison Pharmaceuticals Inc: lead

Study Sites (1)

University of Siena

Siena, Italy

Location

MeSH Terms

Conditions

Rett Syndrome

Interventions

alpha-tocotrienol quinone

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 25, 2013
• First Posted: April 2, 2013
• Study Start: January 1, 2013
• Primary Completion: December 1, 2013
• Study Completion: January 1, 2014
• Last Updated: July 26, 2018

Record last verified: 2018-07

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)