Tuesday, February 26, 2013

Calling all Leigh's Families

If you read our blog, you likely know that Will is a Phase 1 participant of the Edison Pharmaceutical trial, EPI-743. We have seen real changes with this trial drug and are anxiously waiting for it to come to fruition for others.
If you have a clinical or genetic diagnosis of Leigh’s or even suspicion of having it, non-profit group MitoAction is asking all families with Leigh’s to contact them immediately. MitoAction’s Executive Director Cristy Balcells is compiling a list of all patients under the age of 18 who have a clinical AND/OR genetic diagnosis to send directly to Edison. Cristy has a daughter with Leighs and also is a nurse.
Even if your doctor has already screened you for the trial, submitted paperwork or if you have been rejected – please email Cristy at director@mitoaction.org or call 888-648-6228.
Right now, EPI-743 is in phase 2B of this trial. It’s an FDA required phase and it’s a double-blind, randomized trial. Meaning, some patients have a placebo and some have the real stuff. At the end of six months, everyone will receive the real deal regardless. This step is necessary in order to bring this drug to market. They need 30 children - now - and they only have 12.
Unfortunately, the requirements as agreed upon by the FDA require that the patients in this phase 2B study have a GENETIC diagnosis, not just clinical. This is a big difference. You can present clinical symptoms – lesions on the brain, ataxia, seizures etc. – but not have a confirmed genetic diagnosis. Our DNA remains smarter than we are at this time.
So, if you are clinically diagnosed only or if you have already been rejected from the trial, you might think why bother… well, what if we as parents can unite and show the FDA that there are hundreds of patients out there who would benefit and your child’s quality and longevity of life increases? What if we as parents can make real change for our kids by simply putting our name on a list? What if we will have the opportunity to participate, but since we aren’t a part of any database or registry we can’t be contacted directly? Let’s make sure that every family – everywhere – is known to Edison Pharma.
And lastly, there’s my huge selfish reason for asking our Mito friends to do this…. My son has benefited from this drug. We don’t know how little or how much, but he has. His verbal shot up, he hasn’t shown any new lesions on the brain since starting and his pigeon toed walking style went away. If this drug ceases to exist, then access for my son will too. If that happens, the little hope we have will quickly fall apart and we’re left with CoQ10. So yes, let me be transparent and say I have a vested interest in this, but so should ever Mito parent.
It’s our responsibility as the first generation of families to even have a clinical trial opportunity to do all we can to spread the word and help make this a success. The quicker we as parents can help make this drug trial a success the quicker the entire Mito community will be able to access the drug. Don’t underestimate the Mito Mom (and Dad!) network. Let’s unite, share the message and get access FOR ALL who might benefit from this drug.

My little Mito Warrior at the Stanford EPI-743 trial waiting for his first brain scan.

Chillin with dad post-relaxation meds.

Sleeping it off in recovery post-brain scan. Scary to see him like this, but worth every minute of worry.


  1. I'm saying so many prayers they either find 18 more children with the genetic diagnosis - or how about open it up to those with a clinical diagnos. It's so important they continue with the trial - for Will and all those with Mito. Really, only 12 children in the US??? That puts the rarity in perspective.

  2. I would give anything for my daughter to have been in this trial. Piper died 2 years ago from Leigh's at the age of 23 months. We desperately tried to get her into Edison's trial, but the FDA denied her because we didn't have a genetic diagnosis. They told us she wasn't sick enough. She died several months after they told us that. About 4 months after she died the FDA changed their rules to allow children without a genetic diagnosis into the first phase of the trial. Too little too late for Piper. I pray they find the needed 30 kids so that this drug trial can continue. I will never know how or if it would have helped Piper, but I do know that it has already helped others. Thinking of you are your family as you travel down this very difficult road.


  3. What about the children who are already on the EPI-743 with confirmed Leighs? I have friends that their daughter in Germany is on the EPI. Can they not consider these children as well? My daughter is on the EPI-743 for her Alpers disease and has been on it for over 2 years. She lost her older sister after only a 6 month battle with Alpers, and here we are almost 3 years later on the EPI and NO SEIZURES, NO NOTHING-NOT even visible progression. She actually has gotten better....I will see who I can gather up, please keep in touch via my facebook page, Dasa Gain, the one listed- I have two, EITHER page is fine. Thanks!!!

  4. I have already informed our doctor and other mito families here in Germany, we hope they will accept children from abroad in the study as well. Our daughter Nina is receiving EPI-743 from September last year, and she is more stable. Our son Darin also has the same genetic confirmed diagnosis and we are trying to enroll him in the study since November. As soon as i have number with Leigh children with genetic confirmed diagnosis i will inform edison also.
    Big hugs from Germany

  5. Laurie, I couldn't agree more! Happy rare disease day huh?

    Belinda, thank you so much for the kind thoughts and prayers. Right back at you and your family!

    Dasa, we are in the same situation as your friend. Confirmed genetic and clinical diagnosis, already on EPI-743. This is one of my biggest fears. The trial will not work out and EPI-743 MAY cease to exist. That is in no way confirmed knowledge, but a scary thought. I suppose it's the risk you take when you agree to do a trial drug.

    Blashko, keep in touch and hopefully Darin will get in soon!

    Thank you all for the warm and loving comments! It's a small community and I hope that we can stand strong together for our kids.