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

Leigh Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02352896
• Other study ID #: EPI743-13-023
• Status: Completed
• Phase: Phase 2
• Start date: January 31, 2014
• Est. completion date: October 30, 2023

Study information

• Verified date: November 2023
• Source: PTC Therapeutics
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

Description:

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 30
• Est. completion date: October 30, 2023
• Est. primary completion date: October 30, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Year to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Leigh Disease
• Leigh Syndrome
• Syndrome

Intervention

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

Locations

Country	Name	City	State
United States	Akron Children's Hospital	Akron	Ohio
United States	Baylor College of Medicine	Houston	Texas
United States	Seattle Children's Hospital	Seattle	Washington
United States	Gregory Enns	Stanford University	California

Sponsors (1)

Lead Sponsor	Collaborator
PTC Therapeutics

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	Number of Participants With Dose-Limiting Serious Adverse Events (SAEs)		Baseline up to Month 36
Secondary	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.	Baseline up to Month 24
Secondary	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.	Baseline up to Month 24
Secondary	Barry-Albright Dystonia Scale Score	Neuromuscular function will be assessed by Barry-Albright Dystonia Scale score.	Baseline up to Month 24
Secondary	Gross Motor Function Measure	Neuromuscular function will be assessed by gross motor function measure.	Baseline up to Month 24
Secondary	Awake Oxygen Saturation Levels	Effect of EPI-743 on respiratory function will be measured by awake oxygen saturation levels.	Baseline up to Month 24
Secondary	Total Ventilator Days and Total Intensive Care Unit Days		Baseline up to Month 24
Secondary	Number of Participants With Pneumonia Episodes and Tracheostomy		Baseline up to Month 24
Secondary	Total Number of Mortalities, Medical Encounters, Hospitalizations, and Hospital Days		Baseline up to Month 24
Secondary	Health-Related Quality of Life as Measured by NPMDS Section 4 Score		Baseline up to Month 24
Secondary	Glutathione Cycle Biomarkers Level		Baseline up to Month 24