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Completed

NCT Number: NCT02352896

Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome

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

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Key information

Conditions

Leigh Syndrome Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Leigh Disease Metabolic Diseases Metabolism, Inborn Errors Mitochondrial Diseases Nervous System Diseases Nutritional and Metabolic Diseases Pyruvate Metabolism, Inborn Errors

Age range

1 year–18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Gregory Enns, Stanford University, California, United States

Loading trial locations.

About this study

To monitor the long-term safety and neurodevelopmental effects of EPI-743 on children who complete the EPI743-12-002 placebo-controlled trial.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • 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

Exclusion criteria

  • 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

Treatment and study plan

EPI-743

Drug

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

Other names: Vincerinone, Vatiquinone

Primary outcomes

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

    Time frame: Baseline up to Month 36

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

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

    Time frame: Baseline up to Month 36

Secondary outcomes

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

    Time frame: Baseline up to Month 24

    Effect of EPI-743 on neurodevelopment will be measured by Bayley Scales of Infant Development-III score.

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

    Time frame: Baseline up to Month 24

    Effect of EPI-743 on neuromuscular function will be assessed by Wechsler Scale of Intelligence and Movement Assessment Battery score.

  3. Barry-Albright Dystonia Scale Score

    Time frame: Baseline up to Month 24

    Neuromuscular function will be assessed by Barry-Albright Dystonia Scale score.

  4. Gross Motor Function Measure

    Time frame: Baseline up to Month 24

    Neuromuscular function will be assessed by gross motor function measure.

  5. Awake Oxygen Saturation Levels

    Time frame: Baseline up to Month 24

    Effect of EPI-743 on respiratory function will be measured by awake oxygen saturation levels.

  6. Total Ventilator Days and Total Intensive Care Unit Days

    Time frame: Baseline up to Month 24

  7. Number of Participants With Pneumonia Episodes and Tracheostomy

    Time frame: Baseline up to Month 24

  8. Total Number of Mortalities, Medical Encounters, Hospitalizations, and Hospital Days

    Time frame: Baseline up to Month 24

  9. Health-Related Quality of Life as Measured by NPMDS Section 4 Score

    Time frame: Baseline up to Month 24

  10. Glutathione Cycle Biomarkers Level

    Time frame: Baseline up to Month 24

Sponsors and collaborators

Lead sponsor

PTC Therapeutics

Industry

Registry information

Official study title

Long-Term Safety and Efficacy Evaluation of Vatiquinone (EPI-743) in Children With Leigh Syndrome

Important dates

Study start
2014
Primary completion
2023
Study completion
2023
First posted
Feb 2, 2015
Registry last updated
Oct 23, 2024

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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