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Eliza’s Journey: Part 2

Gene therapy is, finally, about to take off! The feeling was palpable at the American Society of Gene and Cell Therapy annual meeting a few weeks ago. It’s been nearly a quarter century since the first experiment in humans.

The drug development pipeline is beginning to swell with early-stage trials, while a few candidates are closing in on FDA approval for marketing. And just as the annual meeting got underway, Francis Collins, director of the NIH, announced his approval of the Institute of Medicine’s late-2013 recommendation to eliminate certain redundant regulatory hurdles in the launch of a clinical trial of gene transfer. That’s what the technology is technically termed before showing efficacy. It’s a way to deliver healthy genes to compensate for those affected by a particular disease.

There’s more encouraging news.

Spark Therapeutics is preparing to commerical gene therapies for Leber congenital amaurosis type 2 and hemophilia B. (courtesy Spark Therapeutics).
Spark Therapeutics is preparing to commercialize gene therapies for Leber congenital amaurosis type 2 and hemophilia B. (courtesy Spark Therapeutics).

In May, Spark Therapeutics, affiliated with the Children’s Hospital of Philadelphia Center for Cellular and Molecular Therapeutics, announced $72.8 million in new funding, with efforts initially in RPE65-related blindness and factor IX deficiency (hemophilia B). Both indications are far along the development trajectory.

Searching for “gene therapy” at brings up 3,547 hits, but that includes terminated and completed projects. Gene Therapy Clinical Trials Worldwide, in the
Journal of Gene Medicine, lists the number of ongoing trials as 1,991. And gene therapy came up several times two days ago during testimony to the House Energy and Commerce Committees about promoting “21st century cures.”

And still more …

The problem of gene therapy strategies that vanquished inherited disease but caused leukemia is disappearing, thanks to retooled or replaced viral vectors (a future post) and tremendous cooperation among research groups in several nations. And my latest jobs list from Linked/In included several biotech/pharma companies seeking experts in regulatory affairs for gene therapies.

Perhaps most important in the evolution of gene therapy are the contributions from families of kids with rare genetic diseases, many of whom have shared their stories on this blog.

Last week’s post introduced the O’Neills, whose viral video has raised more than $1 million towards launching a phase 1/2 clinical trial (safety and possibly efficacy) for gene transfer to treat Sanfilippo syndrome type A. Without intervention, in the next year or two, 4-year-old Eliza will begin to descend into the nightmare of irreversible brain damage as an enzyme deficiency upsets the biochemical balance in her cells’ lysosomes, the debris sacs.

The media, in droves, conveyed Eliza’s need in early April. Most reported that research so far is only in mice, perhaps because results from a clinical trial in France weren’t officially published until May, in Human Gene Therapy, a source that might be off the radar of many media folk.

The French company,, founded by Sanfilippo parents in 2009, delivered genes by catheter directly into the brains of four children. Results were in by June 2013, a month before Eliza was diagnosed. The trial that she may participate in at Nationwide Children’s Hospital in Columbus, Ohio, will deliver the needed genes much less invasively, by intravenous infusion. The two trials use different viral vectors.

Michaël Hocquemiller, PhD, who handles scientific and clinical affairs at Lysogene, shared good news and links: to last month’s publication, FDA’s granting of orphan drug designation to SAF-301 a year ago, and recent financing. Their procedure appears to be safe, but the trial couldn’t show much benefit in so few children over so short a time. Still, “neuropsychological evaluation revealed an improvement of behavior: a strong decrease in hyperactivity, strongly improved sleeping patterns and improved focus and socialization skills in several patients,” he said via email.

Safety in a few kids is a giant first step, and it’s why additional trials are imperative to confirm the findings and demonstrate efficacy.

I haven’t yet spoken to the researchers at Nationwide, but a news release tells how families helped to fund and participated in the natural history studies that are critical to setting parameters to assess whether a gene transfer protocol is working. The project may begin a clinical trial by the end of this year, with a boost in funding vector production from the efforts of the O’Neill family and the generosity of so many caring strangers.

The story of how the family’s video came to be is in itself fascinating. So here is Part 2 of Eliza’s Journey, from Glenn O’Neill.

SavingEliza - instagramWe knew we had to jump right in. We started our own non-profit 501c3 Cure Sanfilippo Foundation (Tax ID: 46-4322131) with no paid employees and all net funding to the cause currently going toward supporting this clinical trial.

Through March we had raised $250,000 from traditional fundraising we continue today. During this time, we kept thinking we would catch a break and meet an “angel” donor, or celebrity, or corporation who would bail us out. It hadn’t happened and we’d only received a long list of declines.

Early in February 2014, I realized our fundraising at this pace wouldn’t get us anywhere close to the goal. How could we get more people to hear Eliza’s story? We had exhausted our Facebook, email, and social media friends. We were out of options.

One very late night in February, out of desperation, I did a simple Google search for “how to make a viral video.” I sent a “shot in the dark” email to the writer of the first article that came up: Karen Cheng – Give it 100.

She responded!

dnaKaren reached out to a few of her friends on our behalf, and long story short, in the last week of March 2014, freelance videographer Benjamin Von Wong and 2 other artists stayed at our house for 8 days, all sleeping on couches. They filmed 40 hours of footage, editing along the way, and charged us nothing! They bonded with our kids and my wife and I joked that it reminded us a bit of our college dorm life. We had the first real laughter since the diagnosis.

When they left, they gave us the 3-minute video of our very personal story, which does a better job explaining the time-critical situation Eliza is facing far better than any words written here could.

This video was released on April 2nd and went viral the following week. Since then, the video has raised over $820,000 with over 16,500 donors. We are closing in on the Most Ever Raised on, which is just over $800,000.

The SavingEliza video has had more than 270,000 views and the video featuring Eliza’s brother Beckham is approaching 100,000 views. Fox News, ABC News, NBC News, the Today Show, MSNBC Live, Al Jazeera America, Huffington Post, BBC, and many others have covered Eliza’s story. (These figures have now been dwarfed. A third video documents the making of the one that went viral.)

Our fundraising had just been catapulted to a completely new level, and honestly, we weren’t ready for it. There had been no real business plan in place for this wild idea and it all happened so quickly. We scrambled for help from friends and family with the increased administration that comes with this. But what we did have now was renewed energy, renewed hope! While there is still a long way to go on funding, we truly felt for the first time that perhaps money would not be a limiting factor. Perhaps we could get there.

In the next weeks, our foundation will be funding the vector production for Sanfilippo Type A, to be used in the clinical trial at Nationwide Children’s Hospital. This was made possible by the kindness of complete strangers around the world, $10, $20, $50 at a time. This is a crucial and time-sensitive step as it takes 6 months to produce these gene therapy viral vector doses.

The O'Neills
The O’Neills

We move now to The Final Step, which is funding the actual clinical trial. We look to raise over $1M more by October 2014.

The amazing researchers at Nationwide Children’s Hospital have been working more than 15 years to get to a point where this disease can be treated. So many incredible families have funded much of this research throughout the years, and we owe them our deepest gratitude. We need this final push now so never again does a parent have to hear “Sanfilippo syndrome” followed by the words “no cure and no treatment.” And never again does a child have to suffer the devastating effects of this disease. Just this week, another beautiful little girl, age 10, is in hospice and her family is making arrangements. It has to stop.

We’ve received so much positive feedback, many with inspirational phrases like “keep going,” “never stop,” and “we are all with you.” We’re in the midst of a historic new model where social media is funding research. Where everyday people, like you and me, from around the world are helping with any amount they are able, to stop this deadly childhood disease this year….and to save Eliza!

Looking ahead, thanks to the help of so many caring strangers.
Looking ahead, thanks to the help of so many caring strangers.

I go back to my journal entry from July 17 of last year, and those words still apply, but in a much different way than they did then. My goal is still to keep Eliza “happy and smiling,” but now for her, it can last a full lifetime.

(Thanks to Glenn O’Neill for family photos)

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