In May of 2020, we received the kind of phone call no parent ever wants. “It’s Duchenne,” the neurologist confirmed. In that instant, the world dropped out from underneath us.
Duchenne muscular dystrophy (DMD) is an incurable, progressive, muscle wasting disease that affects about 1:3500 live male births. It is a life-limiting genetic condition, and those affected often don’t survive to see their thirties.
The day we received my son Caffrey’s diagnosis also happened to be his 10th birthday. Instead of celebrating the decades of life that would still unfold for him, all I could see were the decades that he would never get to experience.
Having built my career in the pharmaceutical sector, I knew a thing or two about drug development, so it did not take long to understand the magnitude of the challenge facing my son. With a standard of care that had not improved in decades and a search through clinicaltrials.gov that surfaced exactly zero interventional trials he was eligible for, I was horrified by the obvious inadequacies associated with rare diseases.
DMD is just one of nearly 10,000 genetic diseases, of which only 5% have an FDA-approved therapy. If I was feeling that my son was overlooked even with a diagnosis that falls within that 5%, can you imagine if you are a family with one of the other 95%? There are far too few treatments (effective or otherwise), little to no innovation (mainly driven by limited patient populations), and we are all, independently, running a race against time. Since most individuals diagnosed with a rare disease won’t live to become teenagers or adults, none of us can afford to wait for new drugs to be available.
The two decades I had worked in pharma prior to my son’s diagnosis had been mostly focused on oncology. During that time, the field changed dramatically from chemotherapy and chemo-combinations as the standard of care to the emergence of targeted therapies and immuno-oncology agents. With those came the extension of five-year survival rates for many types of cancers—an important step forward for the field. I felt fortunate to work for large, well-resourced companies committed to tackling serious diseases that affect millions. One did not need to look far to find teams that could operationalize complex global clinical programs, successfully navigate any regulatory challenge, or scale manufacturing and distribution of biologics and small molecules alike.
But within these same organizations, there comes an inherent aversion to risk. This is in part because there is often too much choice for programs to advance but also because the major multinationals are usually scrutinized by shareholders for their operating margins—in other words, how much profit the company makes after accounting for operating costs. The common interpretation on how best to achieve this is by focusing on specialty products for massive patient populations that can be developed quickly. This means programs for rare diseases, regardless of how transformative they can be, often (and perhaps wrongly) do not make the cut.
Caffrey’s diagnosis inspired a deep reflection on my career. How is it possible that I have worked on medicines that have helped so many and yet it feels like no one is helping my son? It was then that I knew that I needed to spend the rest of my career focused on having an impact on patients with rare genetic diseases.
When I was first introduced to Alltrna, I could immediately appreciate the potential of its platform to transform the way we classify and treat patients with a genetic condition. Almost all novel treatments, such as gene therapy and gene editing, take a disease- or gene-specific approach. That means waiting for individual treatments for each of the ~10,000 known genetic diseases.
Families like mine just don’t have the luxury of time to wait for that paradigm to unfold.
Alltrna’s transfer RNA (tRNA) technology turns that paradigm on its head; instead of tackling each individual disease one at a time, we address shared genetic mutations that are common across most of these diseases. In other words, a single engineered tRNA may be able to treat patients across hundreds, maybe even thousands, of life-threatening conditions.
Leaving Big Pharma to lead Alltrna was a family decision—one that required uprooting our lives and embracing financial and job security risks. But when a rare disease touches one family member, it reshapes the entire family’s priorities, and this move felt like a way to take action rather than stand by and do nothing.
Rare disease drug development can be hugely impactful, both from a patient and financial perspective, but it’s not for the faint of heart. Historically, these have been therapeutic areas that companies have shied away from. Small patient populations make it cumbersome to enroll clinical trials, biomarkers are often not validated for registrational use, and natural history studies that have been used as controls can be costly and laborious to complete. These challenges have been deterrents and, while the field has been focusing on lucrative and more abundant diseases, the unmet need, not to mention the opportunity, in rare diseases has only heightened.
One way to counter these challenges is to abandon the disease-by-disease approach and instead focus on the more common drivers of rare genetic diseases, such as shared mutations. This would enable drug developers to expand clinical trials to include more patient subpopulations and drive access more rapidly to more patients in need.
The onus falls on us to be the catalysts of change and forgers of partnerships to enable a different future for rare disease families. By working smarter with patient advocacy groups, regulators, clinical experts, and pharma, we can accelerate the development of novel technologies emerging from biotech. Alltrna’s engineered tRNAs have the potential to scale across rare genetic diseases in a way that no other modality can, but we can’t do it alone. We need:
- Patient groups to inform meaningful data points and identify patients.
- Clinicians to conduct mutational analyses as the standard diagnostic workup.
- Regulators to embrace flexibility regarding preclinical data requirements and novel clinical trial designs.
- Pharma’s global machinery to scale development, commercialization, and payer access for these therapeutics.
Together, we can generate the clinical data through nimble, efficient development programs that have the potential to transform medical practice.
If we can double the five-year survival rates for certain cancers, as we have in the last two decades, the power and responsibility is in our hands to do the same for rare diseases—many of which overwhelmingly affect children. For these young patients, doubling survival isn’t just about extending life; it’s about giving them a chance to grow up, to experience milestones their families once feared they’d never see. Now is the time to be bold, take risks, and invest in disruptive scientific platforms that can accelerate science with a purpose, so that rare disease patients don’t just survive, but have the opportunity to truly live.
My son, Caffrey, is only one of 350 million people worldwide that have a rare diagnosis. He is counting on us, and he does not have time to wait. Let’s get to work.
The opinions expressed in Fortune.com commentary pieces are solely the views of their authors and do not necessarily reflect the opinions and beliefs of Fortune.
Read more:
- I cared for my dad under ‘hospital at home’ in his final weeks. The program is missing one big piece
- Cancer made me a patient. Health care’s blind spots made me a CEO
- Misaligned incentives plague our health-care system. Here’s how to make America healthy again
- Americans finally got a rule protecting their credit scores from unexpected medical debt. Now Trump is attacking the agency behind it
