FranceResearch and clinical trials
TRAPS in France's rare disease registry: some registered patients have no gene change
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In France, patients with TRAPS in the national rare disease registry were re-examined. Of the 101 patients whose gene tests were assessed, a disease-causing change was found in 69%. The remaining patients may belong to a different group of fever disorders. In France, the lowest frequency estimate is about one in 1.16 million people. The authors say the registry data need to be corrected.
What does it mean for patients and families?
Gene testing is very important in diagnosing TRAPS. If the test gives an uncertain result, you need to discuss it separately with your doctor. Registry data should be interpreted carefully.
Source
Scientific paper: Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS). Orphanet Journal of Rare Diseases, 2025. DOI: 10.1186/s13023-025-04086-4 · PubMed 41466287
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: TNF receptor-associated periodic syndrome (TRAPS)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.