The News We’ve Been Waiting for: “Gene Therapy Program for Rett Syndrome will be advanced by biotech company.” Last week RSRT sent out an email announcing they will be going to a Gene therapy trial for Rett. Reading those words took my breath away. I froze for a moment. My hands were shaking. Since Maggie was diagnosed, I had hoped I would read those words one day.
Rett Syndrome will be going to gene therapy trials. Its not if, its when. That is huge. As always, thank you for being our support. We are not there yet, and we will need more help. But we will get there, with a little bit of pixie dust.
Monica at RSRT wrote a blog, that is honest, hopeful and informative. She discusses what a gene therapy trial would possibly mean for us. Read that blog here…
There is so much hope. Take the time to read the initial press release here. It is worth it.
Pixie dust goes here
Looking back, it seems so long ago that Maggie was a part of the Trofinitide clinical trial. At 5 years old, my little girl went through 10 weeks of weekly appointments in a different city, to change her life. How many people can say that? I wish she didn’t have to do it, I wish so many things were different for her, except for one. Her bravery. She is brave. Two things…She is also strong. Just like so many other girls with Rett Syndrome, she chooses to fight to change her life.
I’m not sure we have discussed this, because life is a blur these days. We talk to Maggie about everything. We explain everything to her, about Rett, about trials, about life. During the trial, there were a couple of moments, we almost quit. It was really hard on us, and really hard on her. There were times she wanted to quit, mostly during the bloodwork, but she prevailed. She would tell us she didn’t like the Doctor, but loved the nurse. She hated the guy that took her blood, but liked the other nurse. She was very specific about who she liked working with. There were times, I almost picked her up and walked out of the clinic. In the end, I’m glad that we did it. We didn’t find out if she was on the drug or on the placebo. We are fairly positive she was on the placebo, because we really didn’t see any change in her. Actually, things got worse for her during that time period. To go through a trial on a placebo (possibly) but still have to endure the hardships of the clinical trial really tested us. We just kept telling ourselves and her, someone has to go through the trials, actually we hope everyone participates. If everyone quit when they didn’t see results, we’d get nowhere. And we want Rett to be history. So we endure.
The good news is, Neuren Pharmaceutical released an announcement today. From the way we are reading the results, it looks like the drug works. What?! The next Phase of the trial is set for 2018, which feels so very far away, but with everything that she has been through lately, I’ll take the good news. It also looks like the drug helps symptoms across the board. Every step forward with Rett treatments and cures, I’ll celebrate.
For most people, its hard to understand why being a part of a clinical trial is hard. That’s fine, I hope you never have to fully understand, just take my word for it. The travel, the mental exhaustion, worry about the drug and its effects and not to mention the monetary aspect. Thanks to Rettland and their mission to help families participate in clinical trials. Also, luckily, Maggie’s uncle Sean was able to get a house for us, for most of the weekends, and we were able to stay at the same place for most of the trial, which Maggie loved. Thank you Uncle Sean and Aunt Lynn. Maybe Uncle Sean and Aunt Lynn will buy her that house, because she really really loves it there.
Looking back at the clinical trial, as hard as it was to travel and upend our lives almost every weekend for two and a half months. I’m so glad that we were able to find balance. Maybe it’s San Diego, but our down time away from the clinic, was pretty awesome.
To read Neuren’s press release regarding Trofinitide, go here.Press Release
When Maggie was first diagnosed with Rett, AJ and I were adamant that we would only donate money to find a treatment or cure for Rett. Then we found out there were clinical trials that had started but were having a hard time getting applicants to commit to the trials. Why would this be? We couldn’t fathom it.
Maggie was 3 years old at the time and we knew we would do anything to get her a treatment. If there was a possible drug, nothing would stop us. Why were parents not jumping to get their girls into trials? We understand, of course, that trials aren’t treatments, but trials are the path to treatments. Without completed trials, treatments will never come.
Then we started doing the math. The cost of having a girl with Rett is significant. There are therapies, doctors appointments, specialists, adaptive gear, therapies, adaptive toys, and supplements to name a few extra costs. Most families’ budgets are strained trying to help their girls on a daily basis much less add the cost and expenses of traveling to a trial for days to weeks at a time, over and over again. Not to mention the days off of work. When we put this all together, we decided we wanted to help. This is the exact reason why Colleen English and her family started the Rettland Foundation – to help families get to the trials. If families need help getting to trials, and we can help, we wanted to. So we’ve donated a fund of $3500 for her organization in the hopes that people would match our fund and expedite this process.
A treatment or cure can’t get here unless trials happen, trials can’t happen if families can’t get to a trial, and families can’t get to trials when participating is as expensive as it is.
Will you consider a donation to rettland.org in order to help get us closer to the cure?
Thank you for following along.
Therapies, therapies, therapies….
For the past 45 days, we have been waiting to hear if the FDA was going to approve NNZ-2566 with Orphan Drug Status. Everyday I (Jenny) have thought about it anxiously, even on days I tried not to think about it, I thought about it. I stalked the Rett family pages, I stalked parents that put their girls through the trial, I stalked Neuren (the pharmaceutical company). Sixty days doesn’t seem like a long time, unless you are waiting to hear about a drug that could possibly change the course of your daughter’s life for the better. During the past 45 days, 4 girls with Rett Syndrome passed away. So yes, it is extremely hard not to think about a drug that could change these girls lives and the lives of so many families. I felt so much anger towards Rett, with each girl that passed away, I kept thinking we are so close, but not close enough for so many. Most recently, the little girl who passed away was relatively healthy, went to bed and just didn’t wake up. It is a reality that we face and it is truly a nightmare. When people say to me, “Oh that is my worst nightmare”. No kidding! We are living it. This is why we want drugs to be approved by the FDA sooner than later, this is why we need clinical trials, this is why we fundraise to try to get there.
So yesterday I woke up and saw the first post that stated the NNZ-2566 drug, which we will now call Trofinetide, was give Orphan drug status approval. I cried. Happy tears, sad tears and out of relief. One step closer. With each step we are closer to a treatment and it really is amazing. We have only been on this Rett journey for 15 months. We have only really seen the effects of Rett Syndrome this past year. (Maggie had delays for about 6 months prior to diagnosis but not really any symptoms of Rett) And I can tell you, it is exhausting, stressful, and occasionally nightmarish. To have hope this early in our journey is fortunate. I have other parents tell me quite often how strong they think AJ and I are and that they admire us, which is very nice. Imagine how we feel towards those parents with older Rett girls, who have been fighting longer, harder and at the same time fundraising and putting their girls in trials in order to get here. They deserve this drug,Trofinetide.
We don’t really know what the next step is for Trofinetide. I’m pretty sure it is a Pediatric trial phase. But we do know, we are one step closer. For Rett families, progress feels amazing, because we have seen enough regression.
Here is a video from Neuren explaining how Trofinetide works…click here. Also at 7minutes 38 seconds they explain how it works on a molecular level for Rett. Do we know what symptoms improved? Not really. The families that are in the trial can’t tell us yet, but when we know, you’ll know.
Here is the press release regarding Trofinetide…click here
But seriously guys, this is a huge step in the right direction. Maggie could have a treatment in her childhood. My best guess is 2-3 years. I’m not a scientist or having any information, its just my guess. Let’s hope I’m the world’s best guesser.
This past week has been a roller coaster of emotions. Last Tuesday November 12,2014, two days after Maggie’s 4th birthday. Neuren Pharmaceuticals released the information regarding the NNZ trial for Rett Syndrome. This is a big deal. There are several trials going on right now, which is great, but the process of drug trials is long and arduous. There is a lot of waiting. So when we heard on Sunday that there should be an announcement by Tuesday, we were excited, anxious, nervous, hopeful and everything else. Remember, there aren’t any treatments or a cure for Rett Syndrome. When we were diagnosed with Rett and met with Dr. Neul at Baylor (he plays a huge part in the NNZ trial), we were told about the trials going on, but also knew it would be some time before treatments would be available. But here we are less than a year after Maggie’s diagnosis and there has been a milestone in Rett treatment development. This is huge. I also thought it would be good to explain to family and friends what this press release means and what needs to happen for Maggie to get this drug.
Highlights I took from the Neuren press release….
Neuren’s NNZ-2566 successful in demonstrating clinical benefit in Rett syndrome Phase 2 trial
• Achieved primary endpoint – both dose levels of NNZ-2566 were well tolerated after 28 days of treatment and no safety concerns were identified
• Higher dose (70mg/kg twice daily) exceeded the pre-specified criteria for improvement in core efficacy measures compared with placebo
• The clinical benefit in the trial encompassed core symptoms of Rett syndrome and was observed in both clinician and caregiver assessments
• Meeting with FDA expected in Q1 2015 to discuss further development in Rett syndrome
• Results will enable applications for both Orphan Drug and Breakthrough Therapy designation
What does this mean? This all means that the drug is safe and what they were wanting it to accomplish it did and then some. Which is exactly what we needed to happen in the trial.
What does this mean for us for Maggie? Well there are still some obstacles to overcome before the drug is put on the market. First the FDA has to approve the drug, which is no easy task. Then the NNZ trial will do another phase. This phase will be another placebo controlled study, but it will be for pediatrics. We are not sure if Maggie will qualify for this phase but are hopeful.
After that, there may be a phase 3 trial which would be an open label trial, meaning everyone knows they are on the drug, just more people are on it. So if the FDA approves the drug and Phase 3 does well, I’m guessing the drug will be on the market within the next 2-3 years (my estimate). I can’t tell you how many times I have broken down crying because of this awesome news. The hope for treatment is real. There is a possibility that Maggie will have a drug that can help her…within her childhood. So now we wait.
Will this drug treat all of Rett Symptoms? We just don’t know, each girl is different, so it most likely will take a cocktail of drugs to help. The way a treatment was explained to me is, some girls might be fine with one drug, some will need several drugs to help. Similar to AIDS patients, we need to find the right cocktail of drugs for each girl. This drug is possibly the first of that cocktail.
With all that said. This is exciting news. Our work isn’t done yet. It is still a long road but there is palatable hope.
Here is a link to the press release by Rettsyndrome.org, who is funding the trial…click here
And here is a link to a blog by the chief science officer at Rettsyndrome.org, who explains in better detail what the drug does, etc…click here
Disclaimer: this post was written by Jenny, which means all tears were shed by Jenny too.
A clinical trial for Rett Syndrome called us over the weekend to let us know that a spot had opened up for Maggie. She’d be the 30th girl of 30 girls in the trial. Our emotions are all over the place. This is something we want to do. We need to do for her. When we were first diagnosed I called everyone I knew in Boston to try to help us get in – ultimately those efforts were unsuccessful and we got denied. But desperate to get some medicine to treat her, we were willing to do anything.
Now that things have calmed down a little bit and we’re faced with this decision, our perspectives have changed. We’re both scared: It’s a big decision. Do we put our 4 year old through the poking and prodding for science’s sake because it might help her? What if it doesn’t? What if we go through all of this effort and all we’ve done is wasted a year of the therapies that are helping her?
All of the cons drastically outweigh the pros – but there’s that one pro just staring us in the face: “What if it helps?”
Yesterday I found myself repeating to myself, “Must not get complacent. Must not get complacent”. It’s so important – because if I’m not constantly pushing for answers, I know I’ll just relax and accept. I don’t want to do that. I love her for who she is, but I know she can get better. I know the answers are close.
I’m not sure if the hesitation is complacency, or optimism that something better is close and I’m not sure I really know how to tell the difference.