Canwen Jiang, Chief Development Officer and Chief Medical Officer at AskBio, shared on LinkedIn:
“During the first half of the year, I shared my thoughts on the potential of gene therapy in more common diseases. As the second half of the year advances, I’d like to reflect on another important aspect of our field and of AskBio’s work: the role patients play in shaping how we define meaningful innovation in rare diseases.
For people living with rare diseases, meaningful progress is often felt in the everyday moments – from making breakfast and spending time with family, to simply doing the things they love. Their lived experience reminds us that innovation is ultimately about improving life beyond the clinic. Yet for many, daily life continues to be shaped by disease. Treatment options are often limited, and when they are available, they may do little beyond managing symptoms while the burden of disease continues to affect patients and their families.
Today, more than 300 million people worldwide are living with one of more than 7,000 identified rare diseases. Behind those numbers is an important challenge for therapeutic development: understanding what meaningful progress looks like for people whose experiences are often underrepresented in research.
The Unseen Daily Realities of Living with a Rare Disease
Conditions such as Pompe disease, which impacts an estimated 5,000 to 10,000 individuals globally, illustrate one of the biggest challenges in therapeutic development: size. Small patient populations make it inherently more difficult to conduct clinical trials, generate robust datasets, and accelerate research.
For patients, those scientific challenges often translate into years of uncertainty. Receiving an accurate diagnosis can take 4 to 5 years on average and frequently involves multiple specialists and repeated misdiagnoses. During this time, symptoms may progress without a clear explanation or direction, adding to the physical and emotional burden. Around 39% of people living with rare diseases experience depression and more than 44% experience anxiety, considerably higher than in the general population.
These lived experiences provide insights that clinical data alone cannot. They help us understand which symptoms have the greatest impact on quality of life, where care falls short, and what ‘meaningful improvement’ truly looks like from a patient perspective.
Economic and Social Burdens
The impact of rare diseases extends far beyond healthcare settings. Conditions such as Pompe disease, limb-girdle muscular dystrophy, and multiple system atrophy – which are areas of focus for us at AskBio-place significant demands on patients, families, caregivers, and healthcare systems. In the United States alone, rare diseases are estimated to cost nearly $1 trillion annually.
Every statistic represents people who are balancing care, work, and uncertainty over many years. Understanding this broader impact helps ensure the goal of innovation is focused on improving everyday life, in parallel with advancing science.
How Patients Shape AskBio’s Innovation
Patient perspectives are not just valuable; they are essential, as they provide insights that cannot always be captured through clinical endpoints alone. They help us understand which outcomes matter most in everyday life and should therefore influence how we develop and evaluate new therapies.
That means designing clinical trials that better reflect patients’ experiences, incorporating patient-reported outcomes where appropriate, and engaging with patient communities throughout development.
Patient communities and advocacy groups also play an essential role by raising awareness, connecting patients with research opportunities, and ensuring lived experience continues to inform scientific progress. Earlier this month, Patient Advocacy Day was a valuable reminder of the contribution these communities make to advancing research and helping keep patients at the center of innovation.
At AskBio, these perspectives are integrated throughout development. They help inform how we design clinical trials, evaluate meaningful outcomes, and make development decisions, challenging us to think differently and innovate with purpose.
As gene therapy expands into more diseases and reaches more people, keeping patients’ experiences at the center of development will be essential to delivering innovation that matters most.”
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