2023-11-27 13:51:31
Olipudase alfa is now also available in Italy, the first and only specific enzyme replacement therapy for the treatment of non-neurological, non-central (non-CNS) manifestations of ASMD (acid sphingomyelinase deficiency) in pediatric and adult patients affected by this condition. rare and progressive genetic disease. Sanofi communicates this following the publication in the Official Journal of the reimbursement determination for the drug. The approval – explains a note – is also based on data from the Ascend and Ascend-Peds clinical studies, which demonstrated how olipudase alfa brings a robust and clinically relevant improvement in lung function (measured by the alveolo-capillary diffusion capacity of sodium monoxide carbon, or DLco) and a reduction in spleen and liver volumes, with a well-tolerated safety profile in adults and children with Asmd.
The pathology, also known as Niemann-Pick disease – divided into types A (infantile neurovisceral), A/B (chronic neurovisceral) and B (chronic visceral) – is a lysosomal metabolic disorder of genetic origin due to mutations in the Smpd1 gene, which determine a genetic defect in the enzyme acid sphingomyelinase (Asm) necessary for the metabolism of the lipid known as sphingomyelin. The latter, due to the genetic defect, accumulates in various organs, causing a series of damages and disorders. Olipudase alfa is an enzyme replacement therapy designed to replace deficient or defective acid sphingomyelinase. To date, the drug is the first and only therapy to be approved in a number of countries as a specific treatment for non-central manifestations of ASMD. The approval obtained in Japan in 2022 was followed by those of other regulatory agencies, such as the US Food & Drug Administration (Fda), the European EMA and then the Italian one (Aifa).
“In the spectrum of metabolic diseases caused by lysosomal storage – states Maurizio Scarpa, director of the Regional Reference Center for Rare Diseases of the University Health Authority of Friuli Centrale in Udine – ASMD presents an extremely complex clinical picture, which can vary from person to person. person, also based on the age at which it manifests itself and how the pathology progresses. The development of this innovative therapy not only offers us new clinical perspectives today, but enriches our knowledge and our experiences with Asmd. The molecule is was designed to replace the deficient enzyme and since the first clinical trials has demonstrated its effectiveness in counteracting the progression of the disease”.
The signs and symptoms of ASMD – explains the note – can appear during childhood, adolescence or adulthood and include, among other manifestations, enlargement of the spleen or liver, breathing difficulties, lung infections, bruising or hemorrhages. Until now, the treatment of this pathology included supportive care for the management of individual signs and symptoms, and careful monitoring to identify potential complications of the disease which has significant morbidity and mortality rates, especially among newborns and children.
“The patient community – underlines Alberto Lionello, president of the Italian Association Niemann-Pick Onlus and related diseases – still has to face a significant diagnostic delay. The issue of early diagnosis is closely linked to that of neonatal screening. Once the diagnosis has been received then, almost always, a new difficult adventure begins for families: finding a reference center that treats this pathology and guarantees adequate care of the patient. We believe, therefore, that the availability of a new therapy gives new hope and demonstrates an ongoing commitment to improving long-term treatment for those living with this rare genetic disease.”
Sanofi – the company recalls – has been committed for more than forty years to supporting people with rare pathologies, often difficult to diagnose and treat such as lysosomal storage diseases which, if not promptly treated, cause irreparable damage to various organs. The commitment is fueled by fruitful collaboration with doctors, healthcare institutions and patient associations, allowing scientific innovation to be translated into increasingly effective therapies for debilitating and often elusive pathologies.
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