Raffaella Origa

TL;DR: A phase 3, randomized, double-blind, placebo-controlled study to determine the efficacy and safety of luspatercept in adult β-thalassemia patients requiring regular RBC transfusions in adults, finding that the drug binds to select TGFβ superfamily ligands to reduce aberrant Smad2/3 signaling and enhance late-stage erythropoiesis.

TL;DR: The exact molecular definition of the genotypes resulting from the interactions among the large number of α-thalassemia determinants and with β-Thalassemia, is important for a correct correlation of genotype-phenotype and to prevent underdiagnosis of carrier status which could hamper the effectiveness of a screening program particularly in those regions where a high frequency of hemoglobinopathies is present.

TL;DR: The high-resolution multiplex ligation-dependent probe amplification (MLPA) method revealed an extended duplication on the α-cluster in 19 patients, i.e. 15 males and 18 females with a thalassemia intermedia phenotype and a heterozygous state for β-thalassemia, which postulated that the reported duplication and other similar defects could be not uncommon in Sardinia and elsewhere.

TL;DR: The TIGET-BTHAL gene therapy protocol was well tolerated by all patients, with no product-related adverse events, no evidence of replication competent lentivirus nor of abnormal clonal proliferation on regular peripheral blood and bone marrow analyses.

TL;DR: Renal adverse events (AE) and increases in serum creatinine (SCr) have been reported in patients with transfusional hemosiderosis treated with deferasirox, and a retrospective chart review of SCr values, other renal parameters, and renal AEs in patients on iron chelation therapy for up to 13 years confirmed the overall acceptable renal safety profile of deferAsirox.