Leigh SyndromePhase 2NCT02352896
Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
A Phase 2 study testing EPI-743 in people with Leigh Syndrome, run by PTC Therapeutics at 4 sites in United States.
Trial summary
EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study. Read more about this study
- Who is it for?
- Ages 1 year to 18 years
- Conditions the study is for
- Leigh Syndrome
- What is being tested?
- EPI-743
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 4 sitesUnited States
- Study dates
- 31 Jan 2014to 30 Oct 2023
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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
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- 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
Trial locations and contacts
4 sites in 1 country.
United States4 sites
Akron Children's Hospital
Akron, Ohio, 44308
Baylor College of Medicine
Houston, Texas, 77030
Seattle Children's Hospital
Seattle, Washington, 98105
Gregory Enns
Stanford University, California, 94305
About this study
Official title: Long-Term Safety and Efficacy Evaluation of Vatiquinone (EPI-743) in Children With Leigh Syndrome
EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.
Read the 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.
- Conditions
- Leigh Syndrome
- Being tested
- EPI-743
- Keywords
- Leigh syndrome, Mitochondrial disorders, EPI743, Vincerinone
- Medical subject headings
- Leigh Disease, Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
EPI-743Drug
Also called Vincerinone, Vatiquinone
EPI-743 100 milligrams/milliliter (mg/mL) oral solution will be administered per dose and schedule specified in the arm.
| Study group | Role | What they receive |
|---|---|---|
| EPI-743 | Experimental | 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. Receives: Drug: EPI-743 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline up to Month 36
Number of Participants With Dose-Limiting Serious Adverse Events (SAEs)
Measured: Baseline up to Month 36
Secondary outcomes (10)
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.
Measured: Baseline up to Month 24
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.
Measured: Baseline up to Month 24
Barry-Albright Dystonia Scale Score
Neuromuscular function will be assessed by Barry-Albright Dystonia Scale score.
Measured: Baseline up to Month 24
Gross Motor Function Measure
Neuromuscular function will be assessed by gross motor function measure.
Measured: Baseline up to Month 24
Awake Oxygen Saturation Levels
Effect of EPI-743 on respiratory function will be measured by awake oxygen saturation levels.
Measured: Baseline up to Month 24
Total Ventilator Days and Total Intensive Care Unit Days
Measured: Baseline up to Month 24
Number of Participants With Pneumonia Episodes and Tracheostomy
Measured: Baseline up to Month 24
Total Number of Mortalities, Medical Encounters, Hospitalizations, and Hospital Days
Measured: Baseline up to Month 24
Health-Related Quality of Life as Measured by NPMDS Section 4 Score
Measured: Baseline up to Month 24
Glutathione Cycle Biomarkers Level
Measured: Baseline up to Month 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Feb 2015 (estimated)
- Study start31 Jan 2014
- Primary completion30 Oct 2023
- Study completion30 Oct 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Leigh SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- PTC Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Bruce Cohen, MD, Principal investigator, Akron Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02352896
- Sponsor's protocol ID
- EPI743-13-023
- Status last verified
- Oct 2024
- First submitted
- 21 Aug 2014
- Last updated
- 23 Oct 2024
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Oct 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long-Term Safety and Efficacy Evaluation of Vatiquinone (EPI-743) in Children With Leigh Syndrome
- ClinicalTrials.gov ID
- NCT02352896
- Acronym / sponsor ID
- EPI743-13-023
- Conditions
- Leigh Syndrome
- Keywords
- Leigh syndrome, Mitochondrial disorders, EPI743, Vincerinone
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- PTC TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 31 Jan 2014 (actual)
- Primary completion
- 30 Oct 2023 (actual)
- Study completion
- 30 Oct 2023 (actual)
- First posted
- 2 Feb 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| EPI-743 | Experimental | Drug: EPI-743Participants 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. |
Who may qualify
- Ages
- 1 year to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (10 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| EPI-743Also: Vincerinone, VatiquinoneEPI-743 100 milligrams/milliliter (mg/mL) oral solution will be administered per dose and schedule specified in the arm. | Drug | EPI-743 |
Primary outcome
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
10 secondary outcomes
Bayley Scales of Infant Development-III Score (Participants Age 0-3)
Time frame: Baseline up to Month 24
Wechsler Scale of Intelligence and Movement Assessment Battery Score for Children (Participants Age 4-18)
Time frame: Baseline up to Month 24
Barry-Albright Dystonia Scale Score
Time frame: Baseline up to Month 24
Gross Motor Function Measure
Time frame: Baseline up to Month 24
Awake Oxygen Saturation Levels
Time frame: Baseline up to Month 24
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Oct 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Bruce Cohen, MD principal investigator
Akron Children's Hospital
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing EPI-743 in people with Leigh Syndrome, run by PTC Therapeutics at 4 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Oct 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease Severity as Measured by Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 Score (time frame: Baseline up to Month 36). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Oct 2024.