Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02352896
Recruitment Status : Active, not recruiting
First Posted : February 2, 2015
Last Update Posted : October 30, 2020
Sponsor:
Information provided by (Responsible Party):
PTC Therapeutics

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

Condition or disease Intervention/treatment Phase
Leigh Syndrome Drug: EPI-743 Phase 2

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.

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 30 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Long-Term Safety and Efficacy Evaluation of Vatiquinone (EPI-743) in Children With Leigh Syndrome
Actual Study Start Date : January 31, 2014
Estimated Primary Completion Date : December 31, 2021
Estimated Study Completion Date : December 31, 2021

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
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.
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




Primary Outcome Measures :
  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 Outcome Measures :
  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 ]


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   1 Year to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02352896


Locations
Layout table for location information
United States, California
Gregory Enns
Stanford University, California, United States, 94305
United States, Ohio
Akron Children's Hospital
Akron, Ohio, United States, 44308
United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030
United States, Washington
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Sponsors and Collaborators
PTC Therapeutics
Investigators
Layout table for investigator information
Principal Investigator: Bruce Cohen, MD Akron Children's Hospital
Layout table for additonal information
Responsible Party: PTC Therapeutics
ClinicalTrials.gov Identifier: NCT02352896    
Other Study ID Numbers: EPI743-13-023
First Posted: February 2, 2015    Key Record Dates
Last Update Posted: October 30, 2020
Last Verified: October 2020
Keywords provided by PTC Therapeutics:
Leigh syndrome
Mitochondrial disorders
EPI743
Vincerinone
Additional relevant MeSH terms:
Layout table for MeSH terms
Leigh Disease
Syndrome
Disease
Pathologic Processes
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Pyruvate Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases
Mitochondrial Diseases