What is this study about?
PTC Therapeutics is conducting a clinical trial (MIT-E) to evaluate the safety and efficacy of an investigational treatment called vatiquinone in patients with mitochondrial disease with refractory epilepsy.
Who can take part?
The study is aiming to involve 60 participants, up to 18 years of age with genetically confirmed Mitochondrial Diseases Drug Resistant Epilepsy; Leigh Disease, Leigh Syndrome, MELAS, Pontocerebellar Hypoplasia Type 6 (PCH6), Alpers Disease or Alpers Syndrome.
The criteria to enter the trial are quite specific and they are aimed at identifying children with genetically confirmed mitochondrial disease and relatively stable but refractory epilepsy.
In order to be eligible for this trial patients must have tried at least 2 antiepileptic drugs and also satisfy the following criteria:
- have ≥6 observed motor seizures occurring during the 28 days prior to the baseline visit (Day 0).
- have ≥2 observed motor seizures in the first 14 days and ≥2 in the second 14 days of the Run-in period (Day -14).
- do not have a consecutive 20-day seizure free period.
- have at least 80% of seizure diary data.
- Documented medical history of epilepsy associated with mitochondrial disease for at least 6 months prior to screening.
- Consent to abstain from non-approved therapies for 30 days prior to the baseline visit (Day 0) and for the duration of the study.
- Stable dose regimen of antiepileptic therapies 60 days prior to the baseline visit (Day 0).
- Stable regimen of dietary supplements 30 days prior and, if on a ketogenic diet, stable ketogenic diet 90 days prior to the baseline visit (Day 0) and for duration of the study.
- Electroencephalogram (EEG) at screening or historical EEG for diagnostic confirmation of seizures.
There are also certain exclusion criteria. Further details are available here.
What's involved in taking part?
This study is a parallel-arm, double-blind, placebo-controlled study. This means that after a 28-week run in phase, participants will be randomly assigned to receive either the study medication (vatiquinone) or placebo over 24-weeks. This phase is known as the randomized, placebo-controlled phase. After completion of the randomized, placebo-controlled phase, participants may enter a 48-week, long-term, extension phase during which they will receive treatment with the study medication vatiquinone.
Are there any risks?
Like all clinical trials involving investigational treatments, there may be risks associated with taking part. Each patient should discuss the benefits and risks of participating in a clinical trial with their doctor who is best placed to advise them individually.
Who will benefit?
Clinical trials are a type of research that studies new tests and treatments and evaluates their effects on humans including the safety and effectivness. Clinical trials are carefully designed, reviewed and approved before they can start. People volunteer to take part in clinical trials. Patients should discuss with their treating doctor whether participation into a particular trial is appropriate for them.
Who is running the study?
PTC Therapeutics are running this study. Currently there are a number of centres in the Unites States recruiting patients. However, it is expected that more centres in other geographical locations, including the UK, may soon begin to enrol participants. Study sites in the UK are in the locations: London (Great Ormond Street) and Newcastle, and are now active and recruiting participants.
How do I find out more?
We would advise that patients always speak to their treating doctor who is best placed to advise them on medical matters. Further details on this trial, including study site locations and contact information in the UK when available, can be found here.