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 100^th 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?”