By Allison Proffitt
April 15, 2015 | If you were wondering what good all that
icy water did, the ALS Therapy Development Institute (ALS TDI), based in
Cambridge, Massachusetts, announced yesterday that it has enrolled the 100th
patient in its Precision Medicine Program (PMP) thanks to a surge of interest and
money from the Ice Bucket Challenge.
ALS TDI bridges the nonprofit and biotech worlds, explains
Steve Perrin, Chief Executive and Scientific Officer of the ALS Therapy
Development Institute. The institute is a 501c3 registered nonprofit with
26,000 square feet of wet lab space and about 40 full time scientists. With an
annual budget of about $12 million a year, ALS TDI does target discovery, lead
optimization, clinical trials, and has partnerships with 6-8 biotech and pharma
companies on drug development for ALS.
When the Ice Bucket challenge initially took off, the
company was happy to post its own Facebook video to raise awareness and funds
for ALS research. But once the challenge went viral, Perrin said, “It went out
of control!” The money poured in: $4 million in twenty days in $20 increments.
Perrin and the team at ALS TDI were just about to launch a
project born out of a “whiteboard brainstorming session” in 2013. The institute
had hired a small team and committed about $1 million to the Precision Medicine
Program. ALS TDI was looking for a contractor to help with the sequencing and
hoped to recruit 25 patients.
“All of the sudden, [the Ice Bucket Challenge] happened; it
changed everything.”
ALS TDI committed about $3 million to two different
antibodies currently in clinical trials. The remaining $1 million was added to
the existing Precision Medicine Program budget.
Breaking Silos
The Precision Medicine Program was born out of a desire to
break down silos, explains Perrin. “The scope was really to break down a bunch
of silos that exist in pretty much every disease space, but certainly ALS.”
Perrin said that ALS patient data is stuck with several
different groups. Medical and disease history stays with a clinic. An academic
institute may collect blood samples to sequence. A research group might take
tissue samples for wet lab experiments.
“All of that data sits in silos… and none of that data is
shared with the patients themselves,” Perrin says. “Our Precision Medicine
Program in its infancy was designed to break down all of those silos.” Perrin’s
vision is for ALS TDI to become a central repository for patient medical
history, patient progression data, whole genome sequences, a bank of induced
Pluripotent Stem Cell (iPS), and iPS cell lines for drug screening. And then
share all of that data with the patients themselves.
“One frustrating thing from a patient’s perspective is 80%
of the patients that have come into our program have all given tissue samples
at other places over the last few years. And you know what they all say? ‘I don’t
know what the researchers ever did with that sample. I never heard from them
again.’”
ALS TDI has partnered with The Broad Institute to do
sequencing, and Massachusetts General Hospital to do tissue collection. Perrin
says he’s actively seeking a technology partner to help store, search, and share
all of the different types of data.
“We need an expert in database architecture: how to build it
so you can query it. What are the statistical tools to be able to mine the data
in an unbiased fashion? And what’s the beautiful software interface that can
display the data back? Not everybody’s going to be a computational biologist.
You’re going to have biologists as well as clinicians that want to mine this
data.”
The People’s Data Project
And it’s not just researchers that Perrin wants to give
access. The PMP is committed to sharing data with patients in real time.
Patients can log in to their portal and see the progress of their samples and
data on a day to day basis.
“They can see where their blood samples is at in our queue,
if we’ve made the DNA yet for sequencing, if it’s been quality controlled, if
it’s been handed off to the Broad. Once the sequence comes back, we pull out
the sequencing results on the known ALS-associated genes and we show a table of
their genetic background, if they have any ALS-associated mutations. They can
follow the progress on their portal on the development of their iPS line from
their skin cells.”
Thirty-seven patients have been sequenced so far (30x
coverage), and they are watching the process closely. Perrin said he’s already
hired two clinical coordinators to field phone calls from participants asking
questions about their genomes and their cell lines. “People are almost
awestruck that we’re going the extra mile of sharing everything with them,”
Perrin said.
ALS TDI is working its way through volunteers at the rate of
about one a day. Over 500 people have expressed interest in participating, and
280 have been prescreened for enrollment. Nearly 200 additional people
living with ALS or healthy volunteers have been scheduled for participation
before the end of the year, and Perrin envisions a database of thousands
eventually.
Perrin says ALS TDI has turned down about 500 volunteers who
want to be involved, but can’t travel to Boston for the blood and skin sample
collection, prompting a second phase of the program—PMP Lite—for patients who
are willing to share medical history and disease progression online and commit to
wearing accelerometers on their wrists and ankles.
“The patients want to
feel part of the process, and not just a repository of fluid samples, if you
will,” he says. “The patients want to feel like they have hope. Even if
something doesn’t come out that’s going to benefit them, they feel in the
future that they’ve contributed to the greater good for what is a really
devastating disease.”
Perrin says the $4 million was a blip on the screen of ALS
TDI’s long term vision. “I don’t think anybody would have predicted that social
media episode was going to occur. It was unprecedented and will probably never
happen again,” he acknowledges. But in August, ALS TDI plans to launch another
campaign to raise awareness and see how much the community can accomplish. There’s
much the group wants to do.
“If economics wasn’t part of the equation, I’d sequence
every person that joined the program!” Perrin says. “Why wouldn’t I?”