Leigh SyndromePhase 2NCT01721733
Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
A Phase 2 study testing EPI-743 15 mg/kg and EPI-743 5 mg/kg in people with Leigh Syndrome, run by PTC Therapeutics at 4 sites in United States.
Trial summary
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers. Read more about this study
- Who is it for?
- Ages 6 to 17 years
- Conditions the study is for
- Leigh Syndrome
- What is being tested?
- EPI-743 15 mg/kg and EPI-743 5 mg/kg
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 35 participants
- Where
- 4 sitesUnited States
- Study dates
- 31 Oct 2012to 31 May 2015
- 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 6 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Clinical and MRI diagnosis of Leigh syndrome
- Moderate disease severity based on NPMDS score
- Age under 18 years
- Documented evidence of disease progression within 12 month of enrollment
- Availability of MRI that confirms necrotizing encephalopathy
- Patient or guardian able to consent and comply with protocol requirements
- Abstention from Coenzyme Q10, Vitamins C \& E, lipoic acid and Idebenone
Who cannot join
- Allergy to EPI-743, Vitamin E or sesame oil
- History of bleeding abnormalities or abnormal PT/PTT
- Diagnosis of concurrent inborn error of metabolism
- Previous tracheostomy
- Ventilator dependent or use of noninvasive ventilatory support w/in 1 month of enrollment
- LFTs greater than 2 times ULN
Show all 11Show fewer
- Renal insufficiency
- End stage cardiac failure
- Fat malabsorption syndrome
- Use of anticoagulant medications
- Abstention from Botox for 6 months prior to enrollment and for duration of study
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
Stanford University
Palo Alto, California, 94304
Seattle Children's Hospital
Seattle, Washington, 98105
About this study
Official title: A Phase 2B Randomized, Placebo Controlled, Double Blind Clinical Trial of EPI-743 in Children With Leigh Syndrome
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
Read the detailed description
The purpose of this study is to evaluate the effects of EPI-743 in patient with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and biomarkers associated with the disease.
This study is a six month prospective randomized double-blind, placebo-controlled trial with a six month extension phase of two dose levels of EPI743. The planned enrollment is for approximately 30 children with genetically confirmed Leigh syndrome. After 6 months of treatment, those children that were randomized to the placebo treatment arm will be re-randomized to one of the 2 active treatment arms.
- Conditions
- Leigh Syndrome
- Being tested
- Placebo, EPI-743 15 mg/kg, EPI-743 5 mg/kg
- Keywords
- EPI743, Leigh syndrome, respiratory chain disease, mitochondrial disorders
- 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.
PlaceboDrug
EPI-743 15 mg/kgDrug
EPI-743 5 mg/kgDrug
| Study group | Role | What they receive |
|---|---|---|
| Placebo | Placebo comparator | Each patient will receive a volume of placebo based on weight Receives: Drug: Placebo |
| EPI-743 15 mg/kg | Active comparator | Each subjects dose will be based on their weight. 15 mg/kg with a maximum dose of 200 mg per dose, t.i.d., will be administered in this treatment arm. Receives: Drug: EPI-743 15 mg/kg |
| EPI-743 5 mg/kg | Active comparator | Each subjects dose will be based on their weight. 5 mg/kg with a maximum dose of 100 mg per dose, t.i.d., will be administered in this treatment arm. Receives: Drug: EPI-743 5 mg/kg |
What is being measured
The primary outcome is the main question the study is designed to answer.
Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3
Change from baseline to six months will be compared between subjects in active treatment group and placebo group
Measured: 6 months
Secondary outcomes (6)
Neuromuscular function
Gross Motor Function Measure; Barry Albright Dystonia Scale
Measured: 6 months
Respiratory function
Need for tracheostomy
Measured: 6 months
Disease morbidity
Total number of hospitalizations
Measured: 6 months
Glutathione cycle biomarkers
Blood levels of glutathione will be compared between placebo and treatment group
Measured: 6 months
Number of dose limiting serious adverse events
Measured: 6 months
Mortality
Number of deaths
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Nov 2012 (estimated)
- Study start31 Oct 2012
- Primary completion28 Feb 2015
- Study completion31 May 2015
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
- Randomised
- Intervention model
- Crossover
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 35 participants (actual)
Sponsor and investigators
- Lead sponsor
- PTC Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Axio Research. LLC
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01721733
- Sponsor's protocol ID
- EPI743-12-002
- Status last verified
- Aug 2020
- First submitted
- 1 Nov 2012
- Last updated
- 31 Aug 2020
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 31 Aug 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 2B Randomized, Placebo Controlled, Double Blind Clinical Trial of EPI-743 in Children With Leigh Syndrome
- ClinicalTrials.gov ID
- NCT01721733
- Acronym / sponsor ID
- EPI743-12-002
- Conditions
- Leigh Syndrome
- Keywords
- EPI743, Leigh syndrome, respiratory chain disease, mitochondrial disorders
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 35 participants (actual)
- Lead sponsor
- PTC TherapeuticsIndustry (pharma, biotech, devices)
- Collaborators
- Axio Research. LLC
- Study start
- 31 Oct 2012 (actual)
- Primary completion
- 28 Feb 2015 (actual)
- Study completion
- 31 May 2015 (actual)
- First posted
- 6 Nov 2012 (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.
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
Detailed description
The purpose of this study is to evaluate the effects of EPI-743 in patient with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and biomarkers associated with the disease.
This study is a six month prospective randomized double-blind, placebo-controlled trial with a six month extension phase of two dose levels of EPI743. The planned enrollment is for approximately 30 children with genetically confirmed Leigh syndrome. After 6 months of treatment, those children that were randomized to the placebo treatment arm will be re-randomized to one of the 2 active treatment arms.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Placebo | Placebo comparator | Drug: PlaceboEach patient will receive a volume of placebo based on weight |
| EPI-743 15 mg/kg | Active comparator | Drug: EPI-743 15 mg/kgEach subjects dose will be based on their weight. 15 mg/kg with a maximum dose of 200 mg per dose, t.i.d., will be administered in this treatment arm. |
| EPI-743 5 mg/kg | Active comparator | Drug: EPI-743 5 mg/kgEach subjects dose will be based on their weight. 5 mg/kg with a maximum dose of 100 mg per dose, t.i.d., will be administered in this treatment arm. |
Who may qualify
- Ages
- 6 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (7 listed)
- Clinical and MRI diagnosis of Leigh syndrome
- Moderate disease severity based on NPMDS score
- Age under 18 years
- Documented evidence of disease progression within 12 month of enrollment
- Availability of MRI that confirms necrotizing encephalopathy
Key exclusion criteria (11 listed)
- Allergy to EPI-743, Vitamin E or sesame oil
- History of bleeding abnormalities or abnormal PT/PTT
- Diagnosis of concurrent inborn error of metabolism
- Previous tracheostomy
- Ventilator dependent or use of noninvasive ventilatory support w/in 1 month of enrollment
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 |
|---|---|---|
| Placebo | Drug | Placebo |
| EPI-743 15 mg/kg | Drug | EPI-743 15 mg/kg |
| EPI-743 5 mg/kg | Drug | EPI-743 5 mg/kg |
Primary outcome
Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3
Time frame: 6 months
Change from baseline to six months will be compared between subjects in active treatment group and placebo group
6 secondary outcomes
Neuromuscular function
Time frame: 6 months
Respiratory function
Time frame: 6 months
Disease morbidity
Time frame: 6 months
Glutathione cycle biomarkers
Time frame: 6 months
Number of dose limiting serious adverse events
Time frame: 6 months
Mortality
Time frame: 6 months
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 31 Aug 2020.
- Edison Pharmaceuticals Web SiteLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 15 mg/kg and EPI-743 5 mg/kg 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 7 inclusion and 11 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 31 Aug 2020. 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. Some participants in this study may receive a placebo. 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?
Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 (time frame: 6 months). 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 31 Aug 2020.