BIO-Europe Panel Spotlights Urgent Need and Rising Optimism in Rare Disease Innovation

At a dynamic BIO-Europe session titled “Scaling the Melody of Innovation for Rare Disease,” leaders from across the biopharma ecosystem came together to share hard-earned insights and guarded optimism about the future of drug development for rare diseases. Laure Nas de Tourris of Clarivate moderated the discussion featuring Lori Badura (Ipsen), Dr. Hubert Birner (TVM Capital Life Science), and Dr. Hubert Trübel (Debra Research), who explored the science, financing, and human impact shaping this fast-evolving field.

Panelists began by grounding the discussion in key facts: a rare disease affects fewer than 1 in 2,000 people in Europe or fewer than 200,000 in the U.S. Yet with over 7,000 identified conditions, the collective prevalence adds up to more than 1 in 12 people worldwide, perhaps making rare diseases not so rare after all.

Despite that scope, only about 500 drugs have ever been approved for rare conditions by the FDA and EMA combined. “There is a lot left to do,” Nas de Tourris observed. For Trübel of DEBRA Research, a pediatrician turned rare-disease advocate, the field has been a throughline across his professional life. “In pediatrics, it’s impossible not to encounter rare diseases,” he said. “Most are diagnosed in childhood, and they shape every part of the medical journey.” His current focus, with DEBRA Research, is on Epidermolysis bullosa, a devastating skin disorder where early intervention is key for quality of life and to extend life expectancy.

Badura, who leads global partnering for neuroscience and rare disease at Ipsen, described the dual challenge of scientific complexity and commercial feasibility. “Rare disease is one of the toughest areas in which to work,” she said. “You’re developing a therapy for a very small population with the same costs as a common disease. You have to be first in class or best in class to make it viable.”

Furthermore, she drew focus on the need to reimagine how clinical trials are designed. “We need to innovate in trial methodology with smaller, faster studies, using new endpoints or real-world data to bring therapies to patients in a time- and cost-sensitive way.”

Birner voiced an investor's view on how the small scale of rare disease programs can make them ideal for targeted venture investment if approached wisely. “Big pharma often doesn’t care because the markets look too small,” he said. For venture capital, the combination of unmet need and scientific innovation is a perfect playground to make a real contribution, he explained.

Birner shared a cautionary tale from an early investment in Jerini, a company developing a treatment for hereditary angioedema that was later acquired by Shire. “We thought it would peak at $200 million in sales,” Birner recalled. “It ended up making $1.2 billion annually. We completely undersold it.”

So, market creation is part of rare disease value. “Often, you’re not just developing a drug – you’re building the market itself,” he said.

All three speakers underscored the critical need for faster, more accurate diagnosis. Trübel highlighted that early detection is not just about saving lives but enabling treatment, “by the time some diseases are diagnosed, the biological window for intervention may already be closing.”

Collaboration and Courage: Rethinking How Rare Drugs Are Made

The panel agreed that tackling rare disease requires new models of collaboration across pharma, biotech, patient groups, and academia. “We act as middlemen,” said Trübel, “we not only invest in biotechs, but we also build infrastructure like registries, disease atlases, and clinical trial networks to help translate innovative ideas into actual drugs.”

Badura emphasized the importance of patient and caregiver input from the start: “We need to understand what’s clinically meaningful to patients, not just statistically significant. A few months of longer survival isn’t always better if quality of life declines.”

New trial models are helping reduce the burden on patients. Trübel cited an example in which researchers visited people living with Epidermolysis bullosa at home instead of requiring travel to a trial site, which can be difficult, if not impossible, for many. Badura added that AI-driven remote assessments, for instance, using motion-sensing cameras to evaluate motor function, can further democratize access. “That’s innovation too,” she said. “Not just new molecules, but new ways to reach patients.”

The conversation highlighted frustrations with regulatory unpredictability, particularly recent U.S. FDA reversals on accelerated approvals. “That’s lethal to innovation,” Birner warned. “Developers need stability.”

Beyond drug development hurdles, systemic shortcomings in healthcare systems certainly make treatment more complicated. Even in wealthy countries like Germany, 24-hour nursing care for ALS patients isn’t always reimbursed. The infrastructure for supporting rare disease patients is still missing.

The most moving part of the discussion focused on children. Birner described witnessing the health of his son’s schoolmate decline rapidly from a rare disease. “He went from playing soccer in first grade to needing a wheelchair by third grade. It’s just terrible,” he said illustrating how devastating untreated rare disease can be for kids. Birner and Trübel agreed that including children in clinical trials is important to understanding disease progression and opening possibilities for better treatment.

As the discussion closed, each panelist offered one takeaway for rare disease innovators: Trübel noted that collaboration is everything. Each stakeholder – pharma, biotech, academia, patients – brings a piece of the puzzle. While Badura advised the packed room to “be bold, redefine what’s meaningful for patients and design around that.” Birner added, “understand your epidemiology. Know where the hidden patients are – because that drives both science and financeability.”

A Dazzling Future

Moderator Nas de Tourris ended on a poetic note: rare disease patients are often called zebras for their uniqueness—and a group of zebras is called a dazzle. “Dazzling can mean confusing,” she said, “but it also means extraordinary.” For this panel of scientists, investors, and advocates, that double meaning captured the rare disease field perfectly: difficult, complex, and dazzlingly full of purpose.