Persistent hypoalbuminemia with intestinal lymphangiectasia and recurrent edema should prompt consideration of CHAPLE disease and genetic confirmation. Early recognition of CD55 deficiency with timely ...
Pemafibrate is being developed for patients with inadequate response or intolerance to ursodeoxycholic acid, as add-on or monotherapy. Pemafibrate (K-808) has been granted Breakthrough Therapy ...
The latest Rare Barometer poll from Eurordis showed that 68% of patients with rare disease and their family members report poor mental health. Larry Luxner, senior correspondent for Rare Disease ...
Researchers advanced the therapy with an AI platform that uses machine learning models trained on patient endotyping, multiomics, biomarker, and clinical data. The US Food and Drug Administration (FDA ...
Dr. Mclaughlin discusses the phase 3 ADVANCE OUTCOMES trial of ralinepag, a selective prostacyclin receptor agonist for PAH. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews ...
While further testing is needed in a larger sample of patients, spesolimab may be a promising option for the treatment of combined GPP and PPP. Spesolimab, an interleukin-36 (IL-36) receptor ...
Investigators are assessing STM-01 in a phase 1 trial in adults with heart failure; PPMD provided the funding to support clinical evaluation specifically for DMD. Parent Project Muscular Dystrophy ...
Tryptophan-kynurenine and arginine-polyamine pathways were strongly linked to severe neurotoxicity and poorer outcomes. Metabolomic pathway-based scores outperformed traditional inflammatory protein ...
Rh immunoglobulin is recommended only after small-volume (ie, ≤1 unit) RhD-positive low-titer group O whole blood or RBC transfusions in RhD-negative females of childbearing potential, with ...
The CAPTIVATE trial met its target of at least 20 responders among the first 40 participants before all 40 completed part A. Dianthus Therapeutics announced an early “go” decision for claseprubart for ...
Preclinical findings show DYNE-401 enables lower and less frequent dosing while targeting both skeletal muscle and the CNS in Pompe disease. Even when administered every other month, DYNE-401 ...
Kidney disease may be the initial manifestation of PNH, with renal tubular epithelial cellular hemosiderin deposition being the most common biopsy finding in PNH. A young adult female patient was ...
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