Clinical trial NCT02352896: 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
Overall status: COMPLETED
Phase: PHASE2
Conditions: Leigh Syndrome
Keywords: Leigh syndrome
Mitochondrial disorders
EPI743
Vincerinone
Lead sponsor: PTC Therapeutics
Sponsor class: INDUSTRY
First posted: 2015-02-02
Enrollment: 30
Sex: ALL
Minimum age (years): 1
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

Eligibility criteria: 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

Primary outcomes:
measure: Disease Severity as Measured by Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 Score
timeFrame: Baseline up to Month 36
measure: Number of Participants With Dose-Limiting Serious Adverse Events (SAEs)
timeFrame: Baseline up to Month 36
Secondary outcomes:
measure: Bayley Scales of Infant Development-III Score (Participants Age 0-3)
timeFrame: Baseline up to Month 24
measure: Wechsler Scale of Intelligence and Movement Assessment Battery Score for Children (Participants Age 4-18)
timeFrame: Baseline up to Month 24
measure: Barry-Albright Dystonia Scale Score
timeFrame: Baseline up to Month 24
measure: Gross Motor Function Measure
timeFrame: Baseline up to Month 24
measure: Awake Oxygen Saturation Levels
timeFrame: Baseline up to Month 24
measure: Total Ventilator Days and Total Intensive Care Unit Days
timeFrame: Baseline up to Month 24
measure: Number of Participants With Pneumonia Episodes and Tracheostomy
timeFrame: Baseline up to Month 24
measure: Total Number of Mortalities, Medical Encounters, Hospitalizations, and Hospital Days
timeFrame: Baseline up to Month 24
measure: Health-Related Quality of Life as Measured by NPMDS Section 4 Score
timeFrame: Baseline up to Month 24
measure: Glutathione Cycle Biomarkers Level
timeFrame: Baseline up to Month 24
Other outcomes:
Locations:
city: Stanford University
country: United States
facility: Gregory Enns
state: California
city: Akron
country: United States
facility: Akron Children's Hospital
state: Ohio
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
Study officials:
affiliation: Akron Children's Hospital
name: Bruce Cohen, MD
role: PRINCIPAL_INVESTIGATOR
References: