Léon van Wouwe, Clinical Innovation Director at Volv Global, has written on the valuation of rare disease treatment for the Autumn 2026 issue of European Biopharmaceutical Review (EBR).
The article appears on pages 58 to 60, under the Orphan Drugs heading, and the full issue can be read in the digital edition. Read the article in the EBR digital edition
What the article argues
Every orphan drug investment rests on estimates of the patient population, the biology and the value of treatment, and the article argues that all three tend to be incomplete in the same direction. It focuses on value: a 2022 analysis in the Orphanet Journal of Rare Diseases put the US economic burden of rare disease at $997 billion in 2019, built on diagnosed patients.
The cost of waiting for a diagnosis
Late diagnosis adds to that burden, as Fabry disease shows, and HTA frameworks have no standard way to capture the cost of delay.
Why current frameworks fall short
Health technology assessment was designed around common diseases, and the article argues that cost-per-QALY measures suit rare disease poorly.
A fuller valuation
The article proposes valuing the whole patient journey from the first symptoms and linking reimbursement to real-world outcomes. Machine learning can support this, as an analysis presented at ISPOR 2026 alongside Sanofi showed in mapping 46 of 67 Pompe disease endpoints to claims data.
What it means for developers and for those assessing treatments
The article concludes that evidence packages will need a fuller picture of disease burden, and that a broader standard would support investment where need is greatest, with treatments more likely to reach the patients who are waiting.
From the article to the white paper
This piece rests on published research and one conference analysis. Intended for a wider audience, it develops the third of the three “paradigm shifts” set out in our white paper Drive For Change, which was co-authored with leaders from Sanofi, Fondation Ipsen, Unitechpharma and brave2change.
The white paper gives the full argument and adds evidence from our own work on rare and difficult-to-diagnose diseases. That includes a prospective pilot in UK primary care in which diagnosis rates for Fabry and Pompe disease rose by 50% to 100%, after ten years in which they had been unchanged. In this work, as in all of ours, Volv Global’s outputs inform which patients clinicians consider for testing. Clinicians and care teams make the diagnostic and treatment decisions. Further examples are in our case studies.
About the author
Léon van Wouwe is Clinical Innovation Director at Volv Global SA, working with pharmaceutical partners on patient identification, care-gap analytics and real-world evidence in rare disease and oncology.
Links:
- van Wouwe, L. (2026) ‘Rare disease: the hidden costs no one is counting’, European Biopharmaceutical Review, Autumn 2026, pp. 58-60. Read the article in the EBR digital edition
- Download the Drive For Change white paper
- Drive For Change press release
- Interview with Léon Van Wouwe and Bernd Rosenbichler on Drive For Change in RARE Revolution.
Photo by Miljan Živković at iStock.
