Is your child suffering from early onset intractable seizures?

Have they been genetically tested?

If your child tested positive for the PCDH19 gene mutation and is suffering from seizures and behavioral disorders, there may be a clinical trial for you.

Find out if your child prequalifies

It is hypothesized that boosting the signaling capacity of receptors in the brain may improve seizure control and other behavioral abnormalities in children with PCDH19 mutation-related epilepsies.

Currently, there are no approved therapies for PCDH19-related epilepsy. Any therapy that reduces the frequency, duration or severity of seizures may positively impact the quality of life for the child and family.

A potential new medication may improve seizure control and other behavioral abnormalities in children with PCDH19-related epilepsy.

The Violet Study is exploring whether ganaxolone – an investigational medication – can reduce seizures, increase seizure free days, and improve behavior in children with PCDH19-related epilepsy.

Find out if your child prequalifies

About PCDH19

Protocadherin19 (PCDH19)-related epilepsy is a serious epileptic disease characterized by early-onset cluster seizures, cognitive and sensory impairment of varying degrees and psychiatric and behavioral disturbances. It primarily affects girls. Mosaic males are also affected, but so far very few males have been diagnosed.

The disease is caused by an inherited mutation of the PCDH19 gene, located on the X chromosome. This gene encodes for a molecule in the central nervous system related to synaptic transmission and formation of synaptic connections during brain development.

The first seizure is generally seen at the age of 10 months, though this can range from 3 to 38 months. Seizure frequency increases during the first few years of life, but seizures become less frequent as the child grows older.

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What is the Violet Study?

The Violet Study is a global, double-blind, randomized, placebo-controlled trial of ganaxolone treatment in children and young adults with PCDH19-related epilepsy. The trial consists of an 8-week prospective baseline period to collect seizure data, followed by a 17-week double-blind treatment phase, which is then followed by a long-term open-label phase where all patients will have the opportunity to receive ganaxolone.

It is hypothesized that treatment with ganaxolone, an investigational medication, will increase and improve GABAA mediated signaling by boosting the signaling capacity of existing receptors and improve not only seizure control but other behavioral abnormalities in children with the PCDH19 mutation.

Ganaxolone is a synthetic analog of allopregnanolone, an endogenous allosteric modulator of GABAA receptors. Ganaxolone has potency and efficacy comparable to allopregnanolone in activating synaptic and extrasynaptic GABA receptors at a site distinct from benzodiazepines.

Find out if your child prequalifies

The purpose of the Violet Study is to test whether ganaxolone can be used to treat PCDH19-related epilepsy.

If you qualify and agree to participate, you may be in the study for up to 25 weeks. After meeting the eligibility criteria, patients will be randomly assigned to receive either the test medication or placebo for 17 weeks. Neither you nor the study staff will know which medication you are receiving. You may remain on the standard anti-seizure medication you are currently taking.

Does my child qualify?

Your child must meet the following criteria to be considered for the Violet Study:

  • Age 1-17
  • PCDH19 mutation confirmed by a genetic laboratory
  • Suffer 8 or more seizures in the 8 weeks prior to screening
  • Failure of 2 or more anti-seizure medications to control seizures
  • Have not experienced ≥8 continuous months of seizure freedom over the previous 12 consecutive months

Before being eligible for the Violet Study, you must provide a 2-month historical seizure calendar which must include seizure type, frequency and denote seizure free days. In addition, the study doctor will require a pre-screening for your child and ask you questions about your child’s medical history and seizures to see if your child can participate in the study. If you are eligible for the study, you will be asked to keep track of your child’s seizures (including the type and number of seizures your child has every day, and the days when your child doesn’t have any seizures) for 8 weeks.

There is no cost for your child to participate in the study. If you require financial assistance to get your child to a required study visit, the sponsor will reimburse for reasonable expenses (parking and travel).

Participation in the Violet Study is completely voluntary. Ask your doctor if being in this study is right for your child.

Find out if your child prequalifies

Clinical Research

Clinical research studies evaluate investigational medications to determine if they are safe and effective for patients before they are made available to the public. Studies are carefully designed and monitored by health professionals, with patient safety as a priority.

Before enrolling in clinical research studies, participants review and sign an informed consent document, stating that the study details have been explained to them and their questions have been answered. This document is not a contract; participation in a clinical research study is completely voluntary and study participants can leave the study for any reason, at any time.


Frequently Asked Questions

Can my child take cannabidiol (CBD) and participate in this trial?

Patients on regulated CBD (e.g., Epidiolex®) with proof of an active prescription can participate in the study. Patients using non-regulated CBD can participate in the study if they discontinue use of that product and undergo a six-week washout period before entering the study. The patient can continue use of non-regulated CBD in the open-label phase of the study after completing the double-blind portion.

Will I have to pay to participate in this trial? Is there help for transportation?

There is no cost to you or your child to participate in this study. If you require financial assistance to get your child to a required study visit, the sponsor will reimburse for reasonable expenses (parking and travel).

Can my child be seen by my regular physician?

Your child will be seen by the physician that is currently participating in the study. You can also continue to see your child’s regular physician, who will be apprised of your child’s treatment and condition throughout the study.

Am I guaranteed to get ganaxolone in this trial?

Following the 17-week double-blind treatment period, all participants will be able to receive ganaxolone during the open-label phase of the trial. The selection of who receives ganaxolone or placebo in the double-blind treatment period is completely random and remains secret during the course of the trial. There is no way of knowing which your child will receive.

Who can join this study?

Children between the ages of one and 17 with early-onset, difficult-to-control seizures, neurodevelopmental impairment and a confirmed pathogenic or likely pathogenic PCDH19 gene variant may be eligible for the study.

See clinicaltrials.gov for details, or ask your doctor if being in this study is right for your child.

What do I have to do to be considered for the study?

Your child will need to go through a pre-screening process, where the study doctor will ask you questions about your child’s medical history and seizure history to see if your child is a good candidate for the study.

Daily seizure history including seizure type, frequency, and seizure-free days in the past 2 months will help determine how your child’s seizures fluctuate. If you do not have this information, you will be asked to sign an informed consent and prospectively chart seizures for 8 weeks before coming in for a screening visit.

My child has a surgically implanted vagus nerve stimulator (VNS). Will that be a problem?

Children with an implanted VNS will be allowed to enter the study if the VNS has been in place for more than a year prior to the screening visit, the settings have remained constant for 3 months prior to the screening visit (and remain constant throughout the clinical trial) and the battery is expected to last until completion of the double-blind phase of the trial.

What treatment options are provided?

Patients will be randomized into the clinical trial to receive either ganaxolone or a placebo (non-active substance), in addition to their standard anti-seizure treatment. The drug will be administered as a drinkable liquid and it must be taken with food. Patients must maintain stable background medications in the month prior to and during the clinical trial.

Are there side effects?

Ganaxolone has been shown to be generally safe and well-tolerated in clinical studies to date. Over 1,600 people of all ages have taken ganaxolone, some for as long as four years. Common side effects include sleepiness, dizziness, and fatigue.

Will this help my child?

Previous studies have shown that ganaxolone reduced seizures in some patients with PCDH19-related epilepsy. This trial intends to find out if ganaxolone is more effective in reducing seizures compared to placebo and whether there are other benefits associated with ganaxolone treatment.

Because of the nature of the trial, even if ganaxolone is effective, your child might be in the control group that receives the placebo. Ask your doctor if being in this study is right for your child.

What is a clinical trial?

Clinical trials are research studies used to find better ways to treat diseases such as genetic epilepsies. Researchers use clinical trials to learn whether a potential drug is safe and effective. Research has shown that patients tend to show benefits while participating in clinical trials.

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