2023-04-17 12:02:41
After the (conditional) approval by Ema in Europe, the green light from Aifa is awaited in Italy. 400,000 patients suffer from this genetic disease due to a blood clotting defectel world, about 5 thousand in our country
Improve assistance to patients with haemophilia, a rare genetic disease due to a blood clotting defect; strengthen the network of centers of reference for diagnosis and treatment of the pathology; favor the global takeover of sick people withactivation, in each Regionof the Diagnostic-therapeutic care pathways (Pdta) in all phases of the disease, from diagnosis to therapy, from the management of bleeding emergencies, to the prevention and treatment of the complications of the diseaseas expectedafter all, from
Agreement between State and Regionsin force since 2013, on the «Definition of regional or interregional assistance pathways for people affected by MEC-Congenital Hemorrhagic Diseases» (group which includes haemophilia).
This is the appeal made to the institutions on the occasion of World Haemophilia Day, April 17, by the Federation of Haemophiliac Associations (FedEmo), during a conference held in Rome, entitled “Gene therapy and therapeutic innovation: the new needs in assisting the MECs».
Treatments available
It is estimated that there are 400,000 in the world people suffering from haemophilia, approx five thousand in Italy alone. Based on the latest data from the Istituto Superiore di Sanità, in the «National registry of congenital coagulopathies» a total of 9,784 patients are present, of which approximately 30 percent have haemophilia A, 28.6 percent have von Willebrand disease, 7.2 percent have haemophilia B and 34.1 percent lacks other factors.
In recent years it is improved life expectancy of patients with haemophilia thanks to scientific advances. a «first progress it was obtained with long-life products that they allowed patients under prophylactic regimen (constant administration of the deficient factor to prevent bleeding, ndr) Of infuse intravenously fewer times – explains Flora Peyvandi, director of the “Angelo Bianchi Bonomi” Hemophilia and Thrombosis Center of the Milan Polyclinic -. Next, using a new drug, administered subcutaneously, has made prophylaxis even easier, especially in younger patients».
Gene therapy: soon also in Italy?
New prospectives can be glimpsed with the recent approval – albeit conditional – by the European Medicines Agency (EMA), of two gene therapy drugs – for hemophilia type A and for hemophilia type B – That, they can be really available in Italy at the expense of the National Health Service, only after the green light from AIFA, the Italian Medicines Agency. In practice, as Dr. Peyvandi explains: “With a single infusion it is possible to achieve protection from bleeding for several years”.
Qualified personnel
on the front ofassistance to the sickInstead, they remain gaps, with differences from one Region to anotherand also within the Region itself. «The post-Covid period has seen land Regions systematically reduce investments in haemophilia centers and professional resources who work there – reports Cristina Cassone, president of FedEmo -. We are at a crossroads: on the one hand, the research offers perspectives that were unimaginable until a few years ago and we see, with gene therapy, a cure for hemophilia; on the other, there was the d
support enhancement e, if you don’t invest in this context, there is the risk of no longer having professionals and specialized centers in Mec, who have to manage even very expensive therapies, as in the case of gene therapy. Many hematologists they are retiring and ours fear is that in the near future there won’t be equally qualified replacements. But – underlines Cassone – if the patient receives quality care from competent professionals, there will also be advantages for health care costs ».
Dr. Giancarlo Castaman, director of the Center for Haemorrhagic Diseases at the Careggi University Hospital in Florence, echoes her: «The management of new therapies
in the context of clinical trials requires one complex structure by not only the medical-nursing staff but also figures such as i data manager or research nurses, still largely not included in the workforce of the centres, if not for initiatives of the same. For the gene therapyfor example, are expected various administrative-managerial fulfilments which require time and perseverance and adequate personnel in terms of adequate numbers and qualifications».
You still don’t activate the Pdtas for global care
Another sore point is the failure to apply the Agreement throughout the national territory on the Mec, signed by the State and the Regions ten years ago.
«All the Regions have implemented the Agreement but without a commitment to spend – explains the president of FedEmo -. The transposition required, for its implementation, theadoption of dedicated diagnostic, therapeutic and assistance pathways (Pdta). Each Region should have activated these health organization tools to support Hemophilia Centers existing in the area. In fact, for the overall care of the patient, they must collaborate, with the haematologist, other professional figures such as, for example, an orthopedic surgeon, an infectious disease specialist, a dentist, as well as a pediatrician and general practitioner. When the patient goes to the haemophilia center for check-ups – explains Cassone – not only his coagulation status but also his general health conditions must be monitored especially if they are adults; for example, their articular and muscular condition should be checked, “stressed” over the years by continuous bleeding» (in particular, this happened before the new prophylaxis drugs were available, ndr).
Appeal to institutions
That is why, on the occasion of World Day, the Federation of Patients’ Associations is once again launching a appeal to the Regions to introduce the Pdta for congenital bleeding disorders.
“To encourage their adoption – reports the president of FedEmo – a working group of the scientific society Aice (Italian Association of Haemophilia Centers) is preparing a sort of guidelines on Pdta for taking care of patients with Mec, so that they can support the Regions that have not yet introduced these tools. FedEmo, then, forcefully asks all institutions, both nationally and regionally, to allocate more structural and human resources for assistance of people with MEC and that patients and their representatives are directly involved in the technical planning tables for congenital haemorrhagic diseases» concludes Cassone.
April 17, 2023 (change April 17, 2023 | 12:02)
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