Paris, November 2026 – Vivet Therapeutics and Putnam Associates have published a population-based study of 1,520 patients coded for Wilson’s disease in the French National Health Data System (SNDS). The open-access article appeared in Frontiers in Gastroenterology on 30 October 2026. It shows that how patients are identified in claims data strongly shapes what we learn about the disease and proposes an algorithm to identify true cases more reliably.
Why it matters
Wilson’s disease is a rare inherited disorder of copper metabolism. With lifelong copper-depleting treatment, most patients can expect a normal life; without it, they risk severe liver and neurological damage. Earlier claims-database studies in France and elsewhere suggested that fewer than half of patients received any specific treatment. That result raised a question: were these patients really untreated, or were some of them never Wilson’s disease patients at all?
Key findings
- The team followed patients identified between 2009 and 2019 and compared four groups, based on hospital coding, long-term disease (ALD) status and treatment.
- Nearly half of the patients (46%) were identified only by a hospital code. Most were never treated, and over 75% of untreated patients never had a copper test.
- These patients were older, often had other chronic conditions, and had almost three times the mortality of treated patients with ALD status (HR 2.87).
- Patients with both ALD status and treatment (31%) had the profile expected of confirmed Wilson’s disease, including regular copper monitoring.
The authors conclude that many hospital-coded cases may not have Wilson’s disease. They propose an exploratory algorithm that combines diagnosis codes, repeated copper or ceruloplasmin tests and Wilson’s-specific medication, to be validated against clinical records, for example through the French rare disease registry (BNDMR).
Reliable patient identification is a prerequisite for accurate real-world data on epidemiology, care pathways and outcomes. At Vivet, this work supports our commitment to understanding the needs of people living with Wilson’s disease.
Reference
Leboucher C, Daniel T, Benichou B, Barbier S, Combal J-P. A population-based study of patients with Wilson’s disease identified in the French national insurance claims database, with a proposal for an exploratory algorithm for improved case identification. Front. Gastroenterol. 2026;5:1901046. doi:10.3389/fgstr.2026.1901046
