It’s the dawn of a new year and new possibilities. So much has happened since our last update, so let’s start there.
Katherine entered the EPI-743 clinical trial at the beginning of August. As a part of the trial, Katherine is monitored very closely – monthly blood work at home and/or at the National Institutes of Health (NIH) – to look for changes in her body while she’s on EPI-743/placebo.
What is EPI-743?
EPI-743 is a small molecule drug that is currently in clinical trials in the United States and Europe. EPI-743 was recently granted orphan drug designation by the FDA to treat patients who are seriously ill and have inherited mitochondrial respiratory chain disorders. EPI-743 works by improving the regulation of cellular energy metabolism by targeting an enzyme NADPH quinone oxidoreductase 1 (NQO1).
How is it given?
EPI-743 is administered orally or through a gastrostomy tube.
How was EPI-743 discovered?
EPI-743 was discovered and developed by Edison Pharmaceuticals by using a technique called high throughput screening. Edison evaluated thousands of chemicals that target cellular electron handling, and finally selected EPI-743 based on its ability to work, be orally absorbed, and its safety.
Why can’t my doctor just prescribe EPI-743?
EPI-743 is an experimental drug. It cannot be prescribed yet because the FDA does not approve it. Access can only be obtained through clinical trial enrollment. Results will be closely monitored at specified enrollment sites, under the direction of clinical research investigators.
Are there additional clinical sites being established? Additional trial sites are being established in Europe, Japan, and in North America.
In a nutshell, EPI-743 is the closest thing to hope available (through clinical trial) in treatment form. Mitochondrial dysfunction is linked to many neurological diseases such as Parkinson’s, Alzheimer’s, ALS, and other diseases like diabetes and some cancers, so this research is important for so many.
In March 2016, Katherine will begin the “washout” phase of the trial – a two month period when she will not take anything, placebo or EPI. (It takes around two months to completely leave your system, thus the “washout” before entering phase II.)
Each person we’ve encountered at the National Institutes of Health is above and beyond wonderful. We feel so fortunate to be a part of their program and could not ask for a better experience. We are grateful for the opportunity to meet so many dedicated and caring individuals.
Many people ask us if we think Katherine is currently on the placebo or EPI? We have no idea, honestly. For example, she hasn’t DRASTICALLY improved, i.e. started walking independently; however, she has maintained her skills and improved in some areas, so it is hard to say.
She started Pre-K in August and loves it.
She is getting more therapy than EVER with three physical therapy sessions, two occupational therapy, and speech therapy per week. One physical therapy session is done on a machine called Geo, which uses treadmill therapy to make her walk. Not only is it creating muscle memory and tone, it is creating new pathways to her brain. Very amazing technology.
All of these changes have happened since she started the EPI trial, so it would be hard to say if she’s improving because of school and therapy or because she’s on the actual EPI drug and benefitting from it. Time will tell.
Of course we fantasize that she’s currently on the placebo and something miraculous will happen in the coming months. Realistically, though, miracles have already happened – at the moment she’s thriving, happy, loving school, and hard working at her therapies. Katherine is the most determined person I know, truly.
This time last year she was still undiagnosed (and we believed she had INAD), we were thinking about her Wish trip, and I had just prepared what I feared would be her last Christmas meal.
Placebo or EPI, we are fortunate in so many ways.
The constant for us is that we simply do not know what the future holds. That will never change. All I can do is keep you posted as it unfolds. Your perspective changes so much on this journey. In the end, EPI may or may not be the answer. Sometimes the benefit isn’t improvement, rather it prevents further regression. The good news is that if it proves beneficial, then she can continue to have access to the drug even if it is not on the market. I am hopeful because clinical trials exist and science is making great strides daily. None of this would have been possible just a few years ago, so I am thankful that our daughter can possibly benefit and contribute to research, treatment, and hopefully a cure.
We wish all of you a very Happy 2016!