Growth in rare diseases is measured differently. It is not simply about launching new products, but about improving diagnosis, strengthening healthcare partnerships, and supporting patients throughout their journey. Those principles are shaping Orphalan's next chapter, as the company expands beyond its longstanding focus on Wilson disease into new rare diseases. Sybille Petersohn-Boschmann discusses the strategy, culture, and leadership philosophy underpinning that evolution.
What attracted you to rare diseases and ultimately to leading Orphalan across the DACH region?
My career has been shaped by transformation from the very beginning. I originally studied veterinary medicine during Germany’s reunification before moving into the pharmaceutical industry, where I discovered that specialty care appealed to me most because it demanded deeper scientific expertise and much closer collaboration with medical specialists.
That naturally led me into biotechnology and, ultimately, rare diseases at Genzyme. Working in markets where the rare disease ecosystem was still developing showed me that improving patient outcomes goes far beyond providing a medicine. It means working alongside physicians, patient organisations, and policymakers to strengthen the entire care pathway.
Although I later broadened my experience in larger organisations, I realised that rare diseases were where I could make the greatest contribution. That is what ultimately brought me to Orphalan. Rare diseases are not one part of what we do—they are our entire purpose. I was equally drawn by the opportunity to help grow the organisation while building strong teams and improving access for patients.
How have you shaped Orphalan’s development in Germany since taking over the affiliate, and what role does it play within the company’s broader ambitions?
When I joined Orphalan in 2022, the German affiliate was at an important turning point, offering an ideal opportunity to establish a clear long-term direction. In rare diseases, I believe mindset makes the difference. Technical skills can be learned, but qualities such as passion, resilience, and curiosity are what enable people to make a real difference for patients. We rebuilt the organisation around those values, uniting a focused team across medical, market access, and commercial functions. Over the past two years, this collective dedication has built strong, sustainable momentum, ensuring that more patients in Germany can benefit from our rare disease portfolio.
As our portfolio expands, we will continue to strengthen our capabilities while remaining an agile, dedicated rare disease partner.
An important milestone has been Orphalan’s acquisition of Orphelia Pharma, which expanded our portfolio into rare paediatric epilepsy and neuro-oncology. We are addressing important unmet medical needs by developing and marketing therapeutic options in these areas which are tailored for the paediatric population.
More broadly, this reflects Orphalan’s evolution. Founded in Paris in 2011 with a focus on Wilson disease, we have grown into an international rare disease company with a presence across Europe, the United States, the Middle East, China, and Latin America. Although our footprint has expanded, our purpose has remained the same. Success in rare diseases requires far more than bringing medicines to market. It demands strong capabilities in clinical development, market access, international expansion, and partnerships that improve care for small and often underserved patient populations.
How is Orphalan evolving its rare disease portfolio while building on its heritage in Wilson disease?
Wilson disease is a good example of why rare diseases can be so difficult to diagnose. It is often described as a clinical chameleon because it can present in many different ways. The clinical presentation can be heterogeneous, ranging from asymptomatic patients with abnormal liver enzyme tests to patients presenting with acute liver failure and advanced liver disease. Other patients may present with neurological or psychiatric manifestations. Such variability makes early diagnosis challenging and, as with conditions such as Fabry, Gaucher, or Pompe disease, many patients are only diagnosed after significant complications have already developed. Early recognition and diagnosis of Wilson disease is crucial since lifelong treatment should be initiated as soon as possible to prevent long term complications.
Wilson disease is a rare, autosomal recessive genetic disorder of copper metabolism, caused by mutations in the ATP7B gene, leading to progressive copper accumulation primarily in the liver and brain. A simple way to explain our treatment, which is a copper chelator, is that it binds to absorbed copper, forming a stable complex which is then excreted in the urine. D-penicillamine has long been an important treatment option for Wilson disease. However, treatment needs and tolerability can vary from patient to patient, and trientine is an established alternative which can address practical and tolerability issues which may be observed with other treatments for Wilson disease.
Beyond Wilson disease, following the Orphelia acquisition, we are working in the therapeutic area of infantile spasms, a rare form of paediatric epilepsy, for which we have an approved paediatric-appropriate formulation of vigabatrin. Our role in Germany is to work collaboratively with the relevant medical and healthcare stakeholders to support disease awareness, understanding and access to medication in this setting.
What makes Germany an attractive market for rare diseases, and where do you believe the ecosystem still has room to evolve?
Germany is one of Europe’s most important healthcare markets and has many strengths. Patients benefit from relatively rapid access to innovative therapies following regulatory approval, the scientific standards applied through the AMNOG benefit assessment are high, and Germany has an extensive network of specialised centres for rare diseases. In rare diseases, where diagnosis and treatment often require multidisciplinary expertise, that combination of scientific excellence and specialised care provides a strong foundation for innovation and patient outcomes.
At the same time, rare diseases present challenges that do not always fit conventional assessment frameworks. AMNOG places a strong emphasis on comparative clinical outcomes, yet generating that level of evidence is often difficult in very small patient populations, where randomised trials are not always feasible. In our view, greater recognition of single-arm studies, real-world evidence, patient registries and patient-reported outcomes would provide a more comprehensive overview of the value that these therapies deliver. In rare diseases, value extends well beyond a single clinical endpoint to include earlier diagnosis, better disease control, improved quality of life, fewer complications, and the support patients receive between clinic visits.
Achieving that broader perspective also depends on better data and closer collaboration across the healthcare ecosystem. Germany is moving in the right direction through initiatives such as the Health Data Lab at BfArM, the European Health Data Space, and the Medical Research Act, all of which should improve access to research data and streamline clinical research. While fragmented responsibilities across federal and state structures have historically slowed clinical studies, the reforms now under way should help create a more coordinated and innovation-friendly environment for rare diseases.
What role does Orphalan play in improving diagnosis and care for people living with rare diseases?
One of the defining characteristics of working in rare diseases is that you create value beyond the medicine itself. Raising awareness and supporting earlier diagnosis are essential parts of improving care. Wilson disease illustrates why it matters, as patients may present with hepatic, neurological or psychiatric symptoms and can easily be misdiagnosed. This is why scientific exchange with different medical specialties is so important. Improved disease awareness and appropriate use of diagnostic tools can help alleviate the burden of the patient journey and improve care for people with rare diseases.
The same philosophy shapes how we engage with the wider healthcare ecosystem. We see payers not simply as reimbursement stakeholders, but as important partners in understanding rare diseases, their impact on patients’ lives and the broader challenges along the care pathway. Structured dialogue with statutory health insurance funds helps build a shared understanding of disease burden, care gaps and the conditions needed for sustainable access.
We also recognise that patients need support beyond the clinic, which is why we have established a patient support programme to help them navigate challenges such as treatment adherence, the transition from paediatric to adult care, and living with a disability. Working with an experienced partner enables us to complement clinical care with practical support, because improving outcomes in rare diseases means supporting the entire patient journey.
How are you building Orphalan’s reputation within Germany’s rare disease ecosystem while preparing for future growth?
As our presence in Germany expanded, establishing open, trusted relationships with statutory health insurance funds became a personal priority. I have always believed that a rare disease company should be recognised as a long-term partner, not simply as a company seeking reimbursement. Every opportunity, whether at congresses or scientific meetings, became a chance to engage with stakeholders, provide medical education, and foster a deeper understanding of the diseases we work in. Over time, that collaborative approach has helped build trust because it demonstrates that we share the same objective: improving patient care.
That long-term mindset also shapes the evolution of our portfolio. The acquisition of Orphelia Pharma has expanded our focus beyond Wilson disease into additional highly specialised rare disease areas, including paediatric neurology and oncology. The portfolio includes a recently acquired product candidate currently under regulatory review, reflecting our commitment to developing innovative treatment options for patients with rare and highly specialised medical needs. This reflects our strategy of addressing highly specialised unmet needs and strengthening Orphalan’s position as a dedicated rare disease partner in Germany.
As Orphalan continues to expand, how do you ensure the organisation develops alongside its portfolio?
Every new product brings a different therapeutic area, different stakeholders, and new expertise, so in a small, rare disease affiliate every launch stretches the organisation. Some activities can be outsourced, but much of the capability has to be developed internally. When we expanded into paediatric epilepsy, we were fortunate to have relevant expertise through our medical director, but success also depended on having people who were pragmatic, curious, and willing to learn. I remember a colleague who had joined from a much larger organisation asking who would be responsible for a particular task. My answer was that, in a small organisation, people often have the opportunity to take ownership of responsibilities beyond their formal role. That willingness to step outside defined boundaries makes a real difference.
The same thinking shapes the way I recruit and lead. Expertise is important, but I have always believed that people can learn almost anything if they are open-minded, curious, and passionate about what they do. Rather than looking only at a CV, I try to understand how people think and whether they have the mindset to build something new. That entrepreneurial spirit has been one of the foundations of the affiliate’s development and, as our portfolio continues to evolve, I believe it will remain just as important as experience itself.
What are your ambitions for the DACH affiliate over the coming years, and what continues to guide your approach as a leader?
Over the next few years, my ambition is to bring our expanding portfolio to patients across the DACH region in a responsible way. We are not driven by volume, but by creating value in rare diseases through earlier diagnosis, better care pathways, improved monitoring, and, above all, listening to patients. Germany will remain central to that ambition, while Austria and Switzerland also offer strong scientific expertise, and I believe the experience we build across the DACH region can provide a valuable model for other European markets.
That same philosophy has shaped my own leadership. I have learned that people are often capable of far more than they believe, which is why my advice, especially to young women starting their careers, is to trust yourself, be brave, and not wait until you feel completely ready. Early in my career, I often questioned whether I was good enough, but I came to realise that growth comes from being willing to embrace new challenges, even when the outcome is uncertain. Ultimately, innovation in rare diseases is about much more than developing a new therapy. It depends on science, access, trust between stakeholders, meaningful collaboration around data, and a genuine understanding of the patient journey, including everything that happens between clinic visits. That is the kind of impact we want to create at Orphalan, and what continues to motivate us every day.
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