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

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ClinicalTrials.gov Identifier: NCT02352896
Recruitment Status : Active, not recruiting
First Posted : February 2, 2015
Last Update Posted : August 24, 2021
Sponsor:
Information provided by (Responsible Party):
PTC Therapeutics

Tracking Information
First Submitted Date  ICMJE August 21, 2014
First Posted Date  ICMJE February 2, 2015
Last Update Posted Date August 24, 2021
Actual Study Start Date  ICMJE January 31, 2014
Estimated Primary Completion Date December 31, 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: June 18, 2020)
  • 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.
  • Number of Participants With Dose-Limiting Serious Adverse Events (SAEs) [ Time Frame: Baseline up to Month 36 ]
Original Primary Outcome Measures  ICMJE
 (submitted: January 27, 2015)
Long term effect of EPI743 on disease severity as measured by NPMDS [ Time Frame: 2 years ]
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: June 18, 2020)
  • 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.
  • 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.
  • Barry-Albright Dystonia Scale Score [ Time Frame: Baseline up to Month 24 ]
    Neuromuscular function will be assessed by Barry-Albright Dystonia Scale score.
  • Gross Motor Function Measure [ Time Frame: Baseline up to Month 24 ]
    Neuromuscular function will be assessed by gross motor function measure.
  • 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.
  • Total Ventilator Days and Total Intensive Care Unit Days [ Time Frame: Baseline up to Month 24 ]
  • Number of Participants With Pneumonia Episodes and Tracheostomy [ Time Frame: Baseline up to Month 24 ]
  • Total Number of Mortalities, Medical Encounters, Hospitalizations, and Hospital Days [ Time Frame: Baseline up to Month 24 ]
  • Health-Related Quality of Life as Measured by NPMDS Section 4 Score [ Time Frame: Baseline up to Month 24 ]
  • Glutathione Cycle Biomarkers Level [ Time Frame: Baseline up to Month 24 ]
Original Secondary Outcome Measures  ICMJE
 (submitted: January 27, 2015)
  • Effect of EPI743 on neurodevelopment as measured by Bayley or Wechsler Scales [ Time Frame: 2 years ]
    neurodevelopment
  • Effect of EPI743 on neuromuscular function as assesed by Barry Albright Dystonia [ Time Frame: 2 years ]
  • Effect of EPI743 on Respiratory Function as measured by oxygen saturation [ Time Frame: 2 years ]
  • Effect of EPI743 on respiratory function as measured by oxygen saturation, episodes of pneumonia, etc. [ Time Frame: 2 years ]
  • Effect of EPI743 on disease morbidity and mortality as measure by mortality, medical encounters and hospitallizations [ Time Frame: 2 years ]
  • Effect of EPI743 on Safety as measure by differences in adverse events [ Time Frame: 2 years ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
Official Title  ICMJE Long-Term Safety and Efficacy Evaluation of Vatiquinone (EPI-743) in Children With Leigh Syndrome
Brief Summary EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.
Detailed Description To monitor the long-term safety and neurodevelopmental effects of EPI-743 on children who complete the EPI743-12-002 placebo-controlled trial.
Study Type  ICMJE Interventional
Study Phase  ICMJE Phase 2
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Condition  ICMJE Leigh Syndrome
Intervention  ICMJE Drug: EPI-743
EPI-743 100 milligrams/milliliter (mg/mL) oral solution will be administered per dose and schedule specified in the arm.
Other Name: Vincerinone, Vatiquinone
Study Arms  ICMJE Experimental: EPI-743
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.
Intervention: Drug: EPI-743
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Active, not recruiting
Actual Enrollment  ICMJE
 (submitted: June 18, 2020)
30
Original Estimated Enrollment  ICMJE
 (submitted: January 27, 2015)
31
Estimated Study Completion Date  ICMJE December 31, 2021
Estimated Primary Completion Date December 31, 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

Inclusion Criteria:

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

Exclusion Criteria:

  1. Allergy to EPI-743 or sesame oil
  2. Allergy to vitamin E
  3. Clinical history of bleeding or abnormal baseline prothrombin time (PT)/partial thromboplastin time (PTT)
  4. Hepatic insufficiency with liver function tests (LFTs) greater than two times upper limit of normal
  5. Renal insufficiency requiring dialysis
  6. End-stage cardiac failure
  7. Fat malabsorption syndromes precluding drug absorption
  8. Use of anticoagulant medications
  9. Participation in other clinical research studies/taking other experimental agents
  10. Participation in elective procedures that required sedation
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 1 Year to 18 Years   (Child, Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT02352896
Other Study ID Numbers  ICMJE EPI743-13-023
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party PTC Therapeutics
Study Sponsor  ICMJE PTC Therapeutics
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Bruce Cohen, MD Akron Children's Hospital
PRS Account PTC Therapeutics
Verification Date August 2021

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP