A Renegade Approach to Drug Development

I’ve been in drug development for over two decades; it wasn’t until I became a Rare Disease Renegade that my eyes were opened to an entirely new approach compared to what I’ve seen in big pharma.

Traditional drug development has been incredibly successful over the last decade and has resulted in the introduction of over 400 innovative medicines in the United States. Despite this progress, clinical development timelines have remained stable over this period with a median of 8.3 years. Certain measures by the FDA such as breakthrough designations and accelerated approvals have reduced these timelines by an average of 1-3 years respectively through faster regulatory reviews.[1]

Conversely, orphan designation status is associated with development timelines that are 1.5 years longer than average [2], highlighting the significant gap when it comes to rare diseases which could benefit from novel approaches that may have a positive impact on the speed in which patients with these conditions can access new innovations.

As a pharma exec with first-hand knowledge of the development process, I have great appreciation for why development timelines are as long as they are. However, as a mom to a young boy recently diagnosed with a rare disease, this has become all too personal and, suddenly, woefully unacceptable. If we wait around for the 8.3 years on average it takes a promising approach to cycle through the clinical development process, my son will certainly no longer be able to walk, will likely not be able to breathe without support, and, perhaps, will have completed his truncated lifespan. This is simply not good enough.

Our personal race against the clock fuels our strategy to develop a customized therapeutic for our son, not to mention, a need to drastically accelerate a potential cure for all patients with Duchenne Muscular Dystrophy (DMD) since even the most promising approaches in development today fall short of addressing the underlying cause of the disease – their own genes. For the first time in my decades-long career, I am tossing the traditional development playbook out the window and embarking on an ‘n=1’ approach, the ‘N’ referring to the number of patients enrolled in a clinical trial and, in this case, the ‘1’ is my 11-year-old son.

Pre-clinical in-vivo and in-vitro analyses will still be conducted on an accelerated timeline. But instead of leveraging cell lines and animal models that are readily available, we are creating our own using muscle cells carefully extracted from my son’s quadricep so that we can have a precise model with his specific genetic mutation to test our customized CRISPR therapeutic. From there, we will submit an Investigational New Drug (IND) application for the first-in-human trial of the gene-editing tool designed specifically to address that pesky single base-pair error in exon 32 of his DMD gene.

Within pharma, we would have hordes of industry experts at the helm for each of these steps, leveraging years of expertise and relationships to shepherd through each of the steps. That’s not the case here. Instead, we’re working alongside other families just like our own trying to change the prognosis for their loved one with a rare diagnosis. Collectively, we collaborate with academics, clinicians, non-profits, and service providers to turn hope into a reality, cobbled together by real people with a life or death mission, fundraising along the way to pay for the acceleration of science that may help my son live past his twenties.

Years of pharma experience have taught me a tremendous amount and I am very grateful for the hands-on drug development and commercialization knowledge imparted to me over the years. But nothing teaches you to think outside the box quite like being thrown into a literal fight for the life of those that are most precious to us. The rules no longer make sense, the challenges must be overcome, and the excuses have no place in our lives. We’re not here to hope. We’re here to do. This is what it means to be a Renegade.

[1] https://www.nature.com/articles/d41573-021-00190-9

[2] https://www.nature.com/articles/d41573-021-00190-9