Primary Sclerosing Cholangitis: Patient Voices in Rare Disease Care
On Rare Disease Day, the global community comes together to shine a light on conditions that are too often overlooked. Primary sclerosing cholangitis (PSC) is one such disease — rare, progressive, and still without an approved therapy. Interactive discussion was conducted between Claudia Filozof, Vice President & Therapeutic Strategy leader of Fortrea, and leaders from two PSC patient groups, PSC Partners, Seeking a Cure and PSC Support, just before 2026 Rare Disease Day. This article will give the audience a clearer picture of growing momentum in rare disease patient care driven by science, advocacy, and, most importantly, patients themselves.
Life After PSC Diagnosis: A Rare Disease Marked by Uncertainty and Burden
Primary sclerosing cholangitis is a rare, chronic liver disease characterized by inflammation and scarring of the bile ducts. Diagnosis is often delayed, not because symptoms are absent, but because they are vague — fatigue, pain, or abnormal blood tests that can be difficult to interpret. As a result, many people with PSC experience what is commonly described as a diagnostic odyssey, sometimes lasting years.
The moment of diagnosis can be devastating, but the challenges do not end once a diagnosis is made. Information found online is frequently outdated or misleading, and the absence of approved treatments adds to the emotional burden. Disease progression is unpredictable and non‑linear, creating long‑term uncertainty for individuals and families alike.
Hope on the Horizon - Elevating the Patient Voice Earlier in Trials
After decades of limited progress, the PSC research landscape is beginning to change. Multiple late‑stage clinical programs are underway, alongside a growing pipeline of early‑phase studies exploring disease‑modifying approaches. For patients, this represents cautious optimism — shaped by past disappointments, but grounded in renewed scientific commitment.
While patient involvement in drug development is increasing, there is still room for improvement. For example, surveys undertaken by PSC patient group reveals a striking disconnect: while most patients are willing to consider clinical trials, only a minority are ever approached, and even fewer ultimately participate.1
The reasons are multifactorial, but trial burdens do matter. Trial sites are often geographically limited, requiring long travel times. Eligibility criteria may exclude patients who are otherwise highly motivated. Study designs can impose significant physical, logistical, and psychological burdens, particularly on people balancing work, family, and chronic symptoms.
The strongest impact occurs when patient perspectives are integrated early — at the concept and protocol‑design stage, not after decisions are finalized.1
There are practical solutions that can potentially transform participation by easing patients’ experiences in trials:
- Home or local study visits where feasible
- Digital tools for symptom tracking and quality-of-life assessments
- Wider visit windows, including evenings or weekends
- Remote or hybrid visits using telehealth, where appropriate
Patient Organizations: Bridging the Gaps in Patient Care and Enabling Research
In addition to bridging the space between diagnosis and long‑term care, patient organizations are increasingly acting as research enablers rather than passive advocates. Through registries, interactive trial maps, educational webinars, and direct outreach, they help patients identify relevant studies and understand what participation truly involves.
Beyond recruitment, these organizations also disseminate trial results and scientific updates, recognizing that patients are highly engaged stakeholders who want to understand progress across the entire research lifecycle.
Patient panels, advisory groups, and co‑creation workshops help identify feasibility issues, prioritize meaningful endpoints, and ensure patient‑facing materials are understandable. These contributions are not merely advisory; they directly improve study quality and relevance.1
Regulatory bodies are also reinforcing this shift, placing growing emphasis on patient‑focused drug development and real‑world outcomes that matter to those living with disease.
Collaboration: The Multiplier Effect in the Rare Disease
Perhaps the most powerful theme emerging in rare disease area is collaboration. In rare diseases, no single organization, country, or stakeholder can drive change alone. When patient groups, researchers, clinicians, regulators, and industry collaborators align on shared goals, impact accelerates.
Rare Disease Day serves as a reminder that visibility matters — but so does sustained action. By centering patient voices, simplifying access to research, and designing solutions that reflect real lives, the rare disease community can continue to move from awareness toward meaningful change.
Learn how Fortrea advances patient centric approaches in rare disease clinical development.
References:
- PSC clinical trial guidelines from AASLD ( https://journals.lww.com/hep/fulltext/2023/02000/aasld_practice_guidance_on_primary_sclerosing.29.aspx )