People ask me what I’m going to do after Phoenix Nest brings
a treatment for MPS IIIC and D to market. What disease will Phoenix Nest work
on next? I look at them as if they have two heads. Are your two brains draining
into one synaptic black hole?
Pre-IND Pre Investigational New Drug. If you are so inclined
to want to develop a new drug and put in on the market you have to ask the FDA
for a meeting, then another meeting and another meeting until you can reach an
agreement. If the FDA is convinced of your data and path forward they will then
allow you to go to clinical trial. The process is rigorous as you can imagine.
We as in Phoenix Nest had our first Pre-IND meeting for MPS
IIID on April 23rd (this will be a future anniversary date.) Sri
drove over from North Carolina, Dr. Lau (Heather) and I took Amtrak from NY,
Dr. Dickson (Patti) flew out from St Louis, Dr. Chao (Tsui-Fen) flew from L.A.
and Dr. Glass (Charles) also came in from San Diego. Elsa, who needs no
introduction called in. This is THE IIID Dream Team. Patti and Tsui-Fen are the
scientists creating the drug. Sri, Dr. Singamsetty, as you know is PN’s newish
Associate Director of Translational Science. Elsa is our advisor on all things
Sanfilippo. Dr. Lau is the clinician for the ‘hopeful’ trial. We just welcomed Charles Glass to Phoenix
Nest. I hope to get a press release out soon as we’re ecstatic to have Charlie
on board! Side note, I refer to doctors by their first name if I ‘work’ with
them. Dr. Lau is Jonah’s neurologist, so she remains Dr. Lau.
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| Standing: Dr. Charlie Glass, Dr. Srikanth Singamsetty, Jill Wood Sitting: Dr. Heather Lau, Dr. Patricia Dickson, and Dr.Tsui-Fen Chao |
Sorry not sorry if this is TMI, my blogs are for my Mom and
she needs/wants details.
PN is actually proposing to take the ENTIRE US patient population to clinical trial. I don’t know that this has ever been done before.
Because of our VERY SPECIAL circumstance, 5 patients we asked for FDA guidance early on. I had been warned by everyone and their rare dog that the FDA will rip you apart, go in with thick skin. Nod your head in agreement and don’t speak unless spoken to. Sri had us do a mock meeting the night before, he told us where we should sit and who should speak and when. Sri told us that the FDA would be sitting across from us and each FDA member would represent an area of expertise relevant to our trial.
We arrived an hour early, the FDA told us to be there 45min
early. I attempted to make small talk with my MPSIIID Dream Team, they were
slow to engage. A group of brilliant, intense, out-spoken scientists were conserving
their words. I had never seen the likes of this before; the enormity of what it
was that we were doing sank in. The FDA panel had already been seated in the
boardroom when we were let in. That was intimidating. What were they doing in
there the whole time we waited outside? Were they discussing Game of Thrones?
From my seat I thought the meeting was great, I don’t know
why we were so nervous. The FDA was very appreciative and sensitive to our
situation. Because we only have 5 patients to treat in the trial, it adds an
extra layer of hurdles to navigate for our trial design. The goal is to prove
that a drug works. If you had a 1,000 patients in a trial and 100 of them
stabilized or get better you’d be in a good position to show the FDA that the
drug works and get approval.
With 5 patients what if only one patient shows beneficial
clinical change? Or none? The FDA wants to help guide us in finding the best
design for our situation which will lead to drug approval. They told us to ‘be
creative’ and that we could come back as many times as we wanted to (they don’t offer that to everyone.)
Last year the FDA released a new guidance for situations
like ours, I’m pointing this out for rare disease families that read my blog
and not for my mom’s benefit. Look up: “Slowly Progressive, Low Prevalence Rare
Diseases with Substrate Deposition That Results from Single Enzyme Defects:
Providing Evidence of Effectiveness for Replacement or Corrective Therapies
Guidance for Industry.”
Wrapping my brain around just how special this trial will
be. We’re going to be pioneering how the FDA responds to clinical trials for
low prevalence disease. If we can
pull this off, our trial will be cited in medical text books.
Jonah’s MRI went really well, despite the fact that we were pushed
back 4 hours. Jonah was
so chill. I kept thinking is this my kid? He was glued to the TV, even when we
changed him into his surgical gown he remained calm. He knew something was up
but he didn’t freak out. This is how powerful the draw of television is for
him. He was also starving and a little loopy, but he barely complained about
being hungry and that boy is always hungry and always pleads for food. I braced
myself for when we had to pull him away from the TV, under normal circumstances
he’d go nuts. But he didn’t, he made his sad face but let me lead him off to be
put under and pushed into the machine. I don’t know what made me more sad. The
fact that he didn’t put up a fight or the fact that we did this to him.
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| Jonah is a hero, always has been always will be. |
I held the gas mask to his face. He started to giggle.
Bitter sweet. The doctor told him a joke: “What is Mickey’s favorite kind of
vehicle?” A “Minnie Van.”
Jonah laughed a very happy laugh, looked at me, turned and
looked at his pillow and fell back. I held the mask on him for a few more
seconds, then the anesthesiologist said he’s out and excused me. The procedure
took another 2 hours. Besides an MRI of his brain and spine, he had a lumbar
tap to check for gag levels, a fibroblast sample taken for Alexey to develop a
cell line, and an ultrasound of his digestive organs to look for inflammation.
It was also the best wake-up that Jonah has had, he’s been
put under five other times. Sadly, the anesthesia and lumbar tap wiped him
out! He could have slept for a week and he barely ate anything.
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| Ylva, Mom from Sweden, Me, Brian Bigger the scientists, Simon Jones the clinician, Lauri the program coordinator and Mom, Shelly from UK. Visiting our MPS IIIC GT site and making plans. |
I said in my previous blog that I couldn’t make it to our
MPS IIIC GT (gene therapy) trial kick off meeting in Manchster, UK, which I
planned and couldn’t unscheduled. With or without me the meeting had to go on.
Jeremy and I had finally received Jonah’s MRI date which coincided with the
Manchester meeting. Both meetings were as equally hard to schedule as several
doctors of different vocations and locations all had to be in the same place at
once. I opted to stay home for Jonah’s procedure and call into the meeting
(Yes, Sri got his travel Visa in time to enter a different country.) The
meeting happened and it was very productive, each player received their
marching orders. On a side note, I don’t think our kids could be in better
hands than at Manchester Childrens Hospital, the nurses and support staff at
Manchester are perfect. Dr. Jones is lucky…
you’re only as good as your support staff.
We’re now writing our Pre-IND for MPS IIIC GT. The first and
possibly only site will be at Manchester, UK
which is not under the jurisdiction of the FDA. For those that are following what PN does,
I’m going this route for a couple of reasons. 1.) PN is a US company; working
with the FDA is economically more feasible and we’re just as reasonable as the
EMA. I’ll take what the FDA says and present it to the EMA. It should be a
wash. 2.) Manchester is where our medical team from surgery to recovery is at. I
can’t mess with that. 3.) Most of our patients are in Europe.
May 10th 2010 was the worst day of mine and Jeremy's life. Diagnosis day as I refer to as ground zero. Jeremy and I have put one foot in front of another and somehow got ourselves a potential treatment. But it's been nine very very long years. I just want to go to trial. We're here lets go.
It's hard on all of our families. I hate that they're sitting there waiting too. I didn't tell Shelly and Ylva that I was coming to the UK until the last minute. But yet they dropped everything to come and meet up with me. We talked about our kids non stop, swapping stories, nodding our heads in agreement, yeah Maddie does that too, so does Jonah. We live for our children. I broke down and setup a GoFundMe campaign, I can't leave these families hanging on anymore, we're here. We must raise $750,000 to get our vector into production. Click here to donate: The Final Countdown
It's hard on all of our families. I hate that they're sitting there waiting too. I didn't tell Shelly and Ylva that I was coming to the UK until the last minute. But yet they dropped everything to come and meet up with me. We talked about our kids non stop, swapping stories, nodding our heads in agreement, yeah Maddie does that too, so does Jonah. We live for our children. I broke down and setup a GoFundMe campaign, I can't leave these families hanging on anymore, we're here. We must raise $750,000 to get our vector into production. Click here to donate: The Final Countdown
