Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report.

Onasemnogene abeparvovec (OA) is the approved intravenous gene therapy for the treatment of spinal muscular atrophy (SMA). A functional copy of the human SMN1 gene was inserted into the target motor neuron cells via a viral vector, AAV9. In clinical trials, OA was infused through a peripheral venous catheter, and no data are available on central catheter use. Recently, we had a case where OA was administered directly into the right atrium via a peripherally inserted central catheter (PICC) instead of a peripheral line, as recommended. The patient was a female child aged 4 months, diagnosed as SMA type I. For practical reasons, a dose of OA according to the weight of the patient (1.1 × 1014 vectorial genomes/kg) was administered via PICC in 1 h, as the product information recommends. The drug was well tolerated, with no hypersensitivity reactions or initial elevation of transaminases or other adverse effects. To our knowledge, this is the first case reported where OA was administered via a central line. This type of administration is not contraindicated, but it is not specifically contemplated or recommended. It is unknown whether central line administration could have any implications for transduction efficiency and immunogenicity. Future studies should clarify these aspects, as each gene therapy has a specific optimal dose recorded that depends on the site and route of administration of the drug, the AAV variant and the transgene.

Evaluating the diagnostic performance of Liaison® chemiluminescence assay as screening tool for detection of acute Epstein-Barr infection: A comparative study.

The present investigation assessed the Liaison® diagnostic performance in detecting Epstein-Barr (EBV) IgM-VCA in a large patient cohort, considering age and symptomatology. VIDAS® were employed as a benchmark for acute EBV infection. The study also probed other coexisting conditions and potential cross-reactivity for error sources. A total of 1311 samples were analyzed, with notable associations found only among paediatric (kappa=0.75) and young adult (kappa=0.58) populations with compatible symptoms. ROC analysis revealed varying optimal cutoff values based on age and symptom categorizations. Logistic regression models identified age and patients from Oncology or Infectious Disease as significant factors for false positives. Potential interferences emerged with RF, ANCA, cytomegalovirus-IgM and VHS-IgM. Notably, Liaison® couldn´t distinguish EBV patients from Oncology, Haemathology or Internal Medicine. This study provides valuable insights, such as implementing ageand symptom-specific thresholds or reviewing test requests, for optimizing EBV serology in microbiology laboratories, leading to faster and more reliable responses.

Programa de Cribado Neonatal de Enfermedades Congénitas en la Comunitat Valenciana

Programa que tiene como objetivo detectar precozmente a los recién nacidos con hipotiroidismo congénito, fenilcetonuria, anemia de células falciformes o fibrosis quística para poder iniciar precozmente su tratamiento y mejorar su pronóstico.