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Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency
Caroline Galeotti1, Ulrich Meinzer, Pierre Quartier
1Department of Pediatrics and Pediatric Rheumatology, National Referral Centre of Auto-inflammatory Diseases, CEREMAI, CHU Bicêtre, Assistance Publique Hôpitaux de Paris, University of Paris Sud, Le Kremlin Bicêtre, , France.
Objective:
To describe the efficacy and safety of IL-1-targeting drugs, anakinra and canakinumab, in patients with mevalonate kinase deficiency (MKD).
Methods:
A questionnaire was sent to French paediatric and adult rheumatologists to retrospectively collect information on disease activity before and after treatment with IL-1 antagonists from genetically confirmed MKD patients. We assessed the frequency of crises and their intensity using a 12-item clinical score built for the purpose of the study.
Results:
Eleven patients were included. Anti-IL-1-targeting drugs were used continuously in all but one patient who received anakinra on demand. Daily anakinra (nine patients) or canakinumab injections every 4-8 weeks (six patients, in four cases following anakinra treatment) were associated with complete remission in four cases and partial remission in seven. The median score during MKD attacks decreased from 7/12 before treatment to 3/12 after anakinra and 1/12 after canakinumab. The number of days with fever during attacks decreased from 5 before treatment to 3 after anakinra and 2 after canakinumab. Marked decrease of C-reactive protein and serum amyloid A protein were recorded. Side effects were mild or moderate; they consisted of local pain and inflammation at injection site, infections and hepatic cytolysis.
Conclusion:
Continuous IL-1 blockade brings substantial benefit to MKD patients. Controlled trials are necessary to further assess the clinical benefit and treatment modalities in these patients.
Insights
Interleukin-1 (IL-1) inhibitors like anakinra and canakinumab significantly improve symptoms in mevalonate kinase deficiency (MKD) patients. These targeted therapies offer substantial benefits for managing this rare autoinflammatory condition.
Area of Science:
- Rheumatology
- Immunology
- Genetics
Background:
- Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease.
- IL-1 pathway dysregulation is implicated in MKD pathogenesis.
Purpose of the Study:
- To evaluate the efficacy and safety of IL-1 targeting drugs (anakinra, canakinumab) in MKD patients.
- To assess the impact of these therapies on disease activity and inflammatory markers.
Main Methods:
- Retrospective study collecting data via questionnaire from French pediatric and adult rheumatologists.
- Inclusion of genetically confirmed MKD patients treated with IL-1 antagonists.
- Assessment of disease activity using a 12-item clinical score, crisis frequency, and inflammatory markers.
Main Results:
- Eleven MKD patients showed significant improvement with anakinra or canakinumab.
- Complete remission in 4 patients and partial remission in 7 patients.
- Reduced crisis intensity, fever duration, C-reactive protein, and serum amyloid A levels; mild to moderate side effects observed.
Conclusions:
- Continuous IL-1 blockade provides substantial clinical benefit for MKD patients.
- Further controlled trials are needed to optimize treatment strategies and confirm efficacy.
