Onasemnogene Abeparvovec: Post-infusion Efficacy and Safety in Patients With Spinal Muscular Atrophy (SMA)-A Fondazione Policlinico Gemelli IRCCS Experience.

Objective: The term Spinal Muscular Atrophy (SMA) identifies a group of genetic disorders affecting spinal motor neurons. It is caused by the loss of the SMN1 gene, resulting in degeneration of spinal alpha motor neurons and muscle atrophy. This study is focused on innovative gene therapies with onasemnogene abeparvovec approved in Italy in March 2021 with full reimbursement by the National Health Service. The objective pursued is verify, by means of the CHOP-INTEND scores obtained, whether therapy with onasemnogene abeparvovec led to an improvement in the clinical picture of the treated subjects and any adverse reactions that occurred. Methods: this study was conducted by evaluating the scores in the different re-evaluations of individual patients treated in our hospital (Fondazione Policlinico Universitario Agostino Gemelli IRCCS - Rome) and comparing them with the results of the CL-303 study described in SPC (Summary of Product Characteristics). The data were extracted from the patients' clinical records on the AIFA (Agenzia Italiana del Farmaco - Italian Medicines Agency) registries, also collecting information on any post-infusion ADRs. Everything was then represented graphically to have a clear comparison with the data from the study registered for drug approval. Results: from the data obtained, 7 out of 8 patients improved their health status post infusion with, in some cases, a significant increase in score. Conclusions: this result allows us to understand how crucial it is to start treatment as soon as possible after the diagnosis of the condition as the greatest improvements were seen in subjects who received treatment within 2 months of birth.

Safety of vaccines administration in hereditary fructose intolerance.

Patients with hereditary fructose intolerance need to follow a life-long fructose dietary and drug restriction to prevent symptoms of intoxication. Concerns about vaccines administration have been manifested overtime, for the risk of a life-threatening acute intoxication. For this reason, at Ospedale Pediatrico Bambino Gesù we performed a deepen research from open sources, datasheets and Pharmaceutical Companies informations from the most common Italian and European vaccines, which are carried out in infancy and childhood. As a safe threshold of 2.4 mg/kg/dose was recently established for oral and parenteral (other than i.v.) route, the manuscript clarifies the safe administration of majority of vaccines in patients with hereditary fructose intolerance.