Back to resultsLong-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
Primary Purpose
Leigh Syndrome
Status
Active
Phase
Phase 2
Locations
United States
Study Type
Interventional
Intervention
EPI-743
Sponsored by
About this trial
This is an interventional treatment trial for Leigh Syndrome focused on measuring Leigh syndrome, Mitochondrial disorders, EPI743, Vincerinone
Eligibility Criteria
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
Sites / Locations
- Gregory Enns
- Akron Children's Hospital
- Baylor College of Medicine
- Seattle Children's Hospital
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
EPI-743
Arm Description
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.
Outcomes
Primary Outcome Measures
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.
Number of Participants With Dose-Limiting Serious Adverse Events (SAEs)
Secondary Outcome Measures
Bayley Scales of Infant Development-III Score (Participants Age 0-3)
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)
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
Neuromuscular function will be assessed by Barry-Albright Dystonia Scale score.
Gross Motor Function Measure
Neuromuscular function will be assessed by gross motor function measure.
Awake Oxygen Saturation Levels
Effect of EPI-743 on respiratory function will be measured by awake oxygen saturation levels.
Total Ventilator Days and Total Intensive Care Unit Days
Number of Participants With Pneumonia Episodes and Tracheostomy
Total Number of Mortalities, Medical Encounters, Hospitalizations, and Hospital Days
Health-Related Quality of Life as Measured by NPMDS Section 4 Score
Glutathione Cycle Biomarkers Level
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT02352896
Brief Title
Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
Official Title
Long-Term Safety and Efficacy Evaluation of Vatiquinone (EPI-743) in Children With Leigh Syndrome
Study Type
Interventional
2. Study Status
Record Verification Date
October 2023
Overall Recruitment Status
Active, not recruiting
Study Start Date
January 31, 2014 (Actual)
Primary Completion Date
October 31, 2023 (Anticipated)
Study Completion Date
October 31, 2023 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
PTC Therapeutics
4. Oversight
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Leigh Syndrome
Keywords
Leigh syndrome, Mitochondrial disorders, EPI743, Vincerinone
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
30 (Actual)
8. Arms, Groups, and Interventions
Arm Title
EPI-743
Arm Type
Experimental
Arm Description
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 Type
Drug
Intervention Name(s)
EPI-743
Other Intervention Name(s)
Vincerinone, Vatiquinone
Intervention Description
EPI-743 100 milligrams/milliliter (mg/mL) oral solution will be administered per dose and schedule specified in the arm.
Primary Outcome Measure Information:
Title
Disease Severity as Measured by Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 Score
Description
NPMDS is a validated scale to assess the mitochondrial disease progression.
Time Frame
Baseline up to Month 36
Title
Number of Participants With Dose-Limiting Serious Adverse Events (SAEs)
Time Frame
Baseline up to Month 36
Secondary Outcome Measure Information:
Title
Bayley Scales of Infant Development-III Score (Participants Age 0-3)
Description
Effect of EPI-743 on neurodevelopment will be measured by Bayley Scales of Infant Development-III score.
Time Frame
Baseline up to Month 24
Title
Wechsler Scale of Intelligence and Movement Assessment Battery Score for Children (Participants Age 4-18)
Description
Effect of EPI-743 on neuromuscular function will be assessed by Wechsler Scale of Intelligence and Movement Assessment Battery score.
Time Frame
Baseline up to Month 24
Title
Barry-Albright Dystonia Scale Score
Description
Neuromuscular function will be assessed by Barry-Albright Dystonia Scale score.
Time Frame
Baseline up to Month 24
Title
Gross Motor Function Measure
Description
Neuromuscular function will be assessed by gross motor function measure.
Time Frame
Baseline up to Month 24
Title
Awake Oxygen Saturation Levels
Description
Effect of EPI-743 on respiratory function will be measured by awake oxygen saturation levels.
Time Frame
Baseline up to Month 24
Title
Total Ventilator Days and Total Intensive Care Unit Days
Time Frame
Baseline up to Month 24
Title
Number of Participants With Pneumonia Episodes and Tracheostomy
Time Frame
Baseline up to Month 24
Title
Total Number of Mortalities, Medical Encounters, Hospitalizations, and Hospital Days
Time Frame
Baseline up to Month 24
Title
Health-Related Quality of Life as Measured by NPMDS Section 4 Score
Time Frame
Baseline up to Month 24
Title
Glutathione Cycle Biomarkers Level
Time Frame
Baseline up to Month 24
10. Eligibility
Sex
All
Minimum Age & Unit of Time
1 Year
Maximum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Bruce Cohen, MD
Organizational Affiliation
Akron Children's Hospital
Official's Role
Principal Investigator
Facility Information:
Facility Name
Gregory Enns
City
Stanford University
State/Province
California
ZIP/Postal Code
94305
Country
United States
Facility Name
Akron Children's Hospital
City
Akron
State/Province
Ohio
ZIP/Postal Code
44308
Country
United States
Facility Name
Baylor College of Medicine
City
Houston
State/Province
Texas
ZIP/Postal Code
77030
Country
United States
Facility Name
Seattle Children's Hospital
City
Seattle
State/Province
Washington
ZIP/Postal Code
98105
Country
United States
12. IPD Sharing Statement
Learn more about this trial
Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
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