NCT02352896

Brief Summary

EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
30

participants targeted

Target at P25-P50 for phase_2

Timeline
Completed

Started Jan 2014

Longer than P75 for phase_2

Geographic Reach
1 country

4 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 31, 2014

Completed
7 months until next milestone

First Submitted

Initial submission to the registry

August 21, 2014

Completed
6 months until next milestone

First Posted

Study publicly available on registry

February 2, 2015

Completed
8.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 30, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 30, 2023

Completed
Last Updated

October 23, 2024

Status Verified

October 1, 2024

Enrollment Period

9.8 years

First QC Date

August 21, 2014

Last Update Submit

October 22, 2024

Conditions

Leigh Syndrome

Keywords

Leigh syndromeMitochondrial disordersEPI743Vincerinone

Outcome Measures

Primary Outcomes (2)

  • Disease Severity as Measured by Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 Score

    NPMDS is a validated scale to assess the mitochondrial disease progression.

    Baseline up to Month 36

  • Number of Participants With Dose-Limiting Serious Adverse Events (SAEs)

    Baseline up to Month 36

Secondary Outcomes (10)

  • Bayley Scales of Infant Development-III Score (Participants Age 0-3)

    Baseline up to Month 24

  • Wechsler Scale of Intelligence and Movement Assessment Battery Score for Children (Participants Age 4-18)

    Baseline up to Month 24

  • Barry-Albright Dystonia Scale Score

    Baseline up to Month 24

  • Gross Motor Function Measure

    Baseline up to Month 24

  • Awake Oxygen Saturation Levels

    Baseline up to Month 24

  • +5 more secondary outcomes

Study Arms (1)

EPI-743

EXPERIMENTAL

Participants will receive EPI-743 at a dose of 15 milligrams/kilogram (mg/kg) up to a total 200 mg 3 times daily (TID) orally with meal or by using nasogastric (NG) or gastrostomy feeding tubes with liquid food for at least 36 months.

Drug: EPI-743

Interventions

EPI-743DRUG

EPI-743 100 milligrams/milliliter (mg/mL) oral solution will be administered per dose and schedule specified in the arm.

Also known as: Vincerinone, Vatiquinone
EPI-743

Eligibility Criteria

Age1 Year - 18 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • Diagnosis of Leigh syndrome with genetic confirmation
  • Completion of EPI743-12-002 protocol and initiation of treatment within 14 days of Month 12 visit in EPI743-12-002 study
  • Participant or participant's guardian able to consent and comply with protocol requirements
  • Continued abstention from supplements excluded in EPI743-12-002 study
  • Botox® is allowed if approved by the sponsor

You may not qualify if:

  • Allergy to EPI-743 or sesame oil
  • Allergy to vitamin E
  • Clinical history of bleeding or abnormal baseline prothrombin time (PT)/partial thromboplastin time (PTT)
  • Hepatic insufficiency with liver function tests (LFTs) greater than two times upper limit of normal
  • Renal insufficiency requiring dialysis
  • End-stage cardiac failure
  • Fat malabsorption syndromes precluding drug absorption
  • Use of anticoagulant medications
  • Participation in other clinical research studies/taking other experimental agents
  • Participation in elective procedures that required sedation

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Gregory Enns

Stanford University, California, 94305, United States

Location

Akron Children's Hospital

Akron, Ohio, 44308, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

MeSH Terms

Conditions

Leigh DiseaseMitochondrial Diseases

Interventions

alpha-tocotrienol quinone

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPyruvate Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Bruce Cohen, MD

    Akron Children's Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 21, 2014

First Posted

February 2, 2015

Study Start

January 31, 2014

Primary Completion

October 30, 2023

Study Completion

October 30, 2023

Last Updated

October 23, 2024

Record last verified: 2024-10

Locations

US(4)