Genetic Disorders Daily Report: 01/23/2024

An open-label phase 2 and 3 study, conducted at three hospitals in Thailand, Türkiye, and the USA, and sponsored by Regeneron Pharmaceuticals and the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, investigated the effect of pozelimab in ten patients with CHAPLE disease and found that after pozelimab treatment, all ten patients had serum albumin normalization and improvement with no worsening in clinical outcomes (1). There was a complete inhibition of the total complement activity. Nine patients had adverse events; two were severe events, and one patient had an adverse event considered related to pozelimab.

Reference

Ozen A, Chongsrisawat V, Sefer AP, Kolukisa B, Jalbert JJ, Meagher KA, Brackin T, Feldman HB, Baris S, Karakoc-Aydiner E, Ergelen R, Fuss IJ, Moorman H, Suratannon N, Suphapeetiporn K, Perlee L, Harari OA, Yancopoulos GD, Lenardo MJ; Pozelimab CHAPLE Working Group. Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study. Lancet. 2024 Jan 23:S0140-6736(23)02358-9. doi: 10.1016/S0140-6736(23)02358-9. Epub ahead of print. PMID: 38278170.