Gene Therapy Gets The Green Light For SMA Human Clinical Trial

It’s been a very newsworthy week in the SMA community. And for good cause.

The Food and Drug Administration (FDA) has given the green light for Phase I clinical trial of a systemic AAV9 delivered human SMN gene at Nationwide Children’s Hospital. The trial is set to begin in 2014 with Type I babies aged zero to 9-months. This is great news for this program and for SMA research in general.

There is no way to adequately encapsulate the SMA-community-wide effort that willed the systemic AAV9-delivered human SMN gene program at Nationwide Children’s Hospital to where it is today. Over the years, nearly every family impacted by SMA had a hand in propelling gene therapy forward and nearly every SMA nonprofit funded critical portions at different stages. It’s impossible to know, but we’d estimate tens of thousands of people donated in some form to this specific program. At theGSF, we’re proud to have been part of funding, alongside FightSMA, the program’s safety and toxicity studies (Read More about what we funded and all the incredible families involved in raising those funds HERE) and we look forward to following its progress over the coming months and years as it enters the arduous and sensitive process of moving from mice, pigs, and primates to humans.

Potential therapies moving to and through the FDA clinical trial process is wonderful news for any disease community. But for a rare disease, it’s unique. And the SMA community not only has one potential therapy working its way through the process, we have several… with several more on their way. And that’s not only unique, that’s incredibly fortunate.

I spent the past few days at the Global Genes Project’s “Patient Advocacy Summit” in Newport Beach, California. I was honored to be invited to moderate their “Creating Strong Alliances” panel and it was a great experience. Throughout the Summit I was surrounded by people of all ages directly or indirectly impacted by countless rare diseases, all advocating relentlessly for their specific condition. Each story is distinct. And each story is inspiring. Many have gone undiagnosed with life-threatening conditions for years. Some suffer from multiple rare conditions. Some have lost several children to conditions they can’t identify or test for. Many have no “community” to turn to. And most face diseases so rare that it’s nearly impossible to find any researcher interested in helping them find viable treatments.

What struck me is how unbelievably fortunate we are in the SMA community. Sure, the disease progression remains brutal and SMA is still a terminal condition. And we don’t have any approved treatments at this point. But within the realm of the 7,000 distinct rare conditions that exist, we have much to be thankful for. A gene has been identified. A backup gene exists. Carrier screening and care options are available. We have a vibrant community full of inspiring self-advocates. Some of the most intelligent minds have committed their lives to changing the future of this disease. We have several potential therapies working their way through the FDA clinical trial process. And we have one more as of last week.

But it’s also important to keep this all in perspective. And make sure that as we work as a community to advance potential treatments, we’re moving with measured hope and tempered expectations. While at the Patient Advocacy Summit one of the more visible represented disease communities received news that one of their most “promising” therapies had failed in Phase III human clinical trials. You could tell it was deflating and devastating news for those impacted – and I admit it impacted me with respect to where we are as a community. The reality is that creating viable treatments for any health condition is extremely risky. And when it comes to rare diseases, there is typically much related to that disease that is still unknown. But, Phase I clinical trial approval news is real reason for us all to celebrate. Most potential treatments never make it this far. Will it end SMA – we certainly hope so. Regardless, it will definitely continue to answer critical questions and shed new light on this complex disease as it trailblazes through the clinical trial process.