On the occasion of the 2021 National Congress of Sifo (Italian Society of Hospital Pharmacy and Pharmaceutical Services), Ossfor-Orphan Drugs Observatory, together with the Tuscany Region and the Campania Region, previewed the PDTA model for hypophosphatemic rickets. With Ptda we mean the Diagnostic Therapeutic Assistance Path, that track along which the life of a person suffering from a specific pathology can proceed, in the safety of a complete care. From diagnosis to correct therapy, from monitoring of outcomes to organizing assistance in one’s own territory and in its living environment.
The Pdta, important tools of health administration, take on an even more relevant value in the context of rare diseases, more complex and less known and therefore more in need of clear paths. For hypophosphatemic rickets, a rare disease that has only recently seen a specific therapy arrive, these PDTAs are now being born in different regions – Tuscany and Campania, where they are already being developed, and soon also in Puglia and Sicily – catching some suggestions that come from the model conceived by Ossfor whose goal is to create a ‘standard’ in all Italian regions for the patient care process.
Hypophosphatemic rickets represent the most frequent forms of genetic rickets and are characterized by the presence of reduced plasma levels of phosphorus. These are rare and severe diseases that require complex multidisciplinary management coordinated by the pediatrician. The main manifestations of hypophosphatemic rickets include skeletal changes, deformities of the lower extremities, bone and tendon pain, growth retardation and dental abscesses. Treatment consists of oral intake of inorganic phosphate salts and metabolites of vitamin D, usually in the form of calcitriol, until the growth phase is complete. Patients should be carefully monitored during treatment to prevent hypercalciuria and nephrocalcinosis, possible complications secondary to therapy. For X-linked hypophosphatemic rickets, the monoclonal antibody burosumab, the first drug to act on the pathophysiological mechanism of disease by inhibiting the activity of excess growth factor Fgf23, has been approved in both Europe and the United States.
The Pdta are tools that allow to outline, with respect to one or more pathologies or a clinical problem, the best process of taking charge of the patient and his family / caregiver within an organization or different organizations. They require the contextualization of clinical and care guidelines, relating to a pathology or a clinical problem linked to the specific organizational reality in which they are developed – whether it is a region, a vast area or a healthcare company – in such a way as to consider the resources actually available. At the event organized as part of the Sifo Congress, the state of the art of programming the network’s activities was presented, with particular reference to pathways for rare diseases in the Tuscany and Campania regions.
“The Tuscan regional project on Pdta, launched in 2018, has structured a dedicated regional model and an established process of definition, sharing and consensus, which provides for the direct involvement of patient associations and other regional networks that may be involved (pediatric network and tumors, for example). The process also allows the updating of the roles of the individual principals in the network, in line with the requirements and defined in the diagnostic, therapeutic and assistance interventions outlined in the Pdta. After the regional consensus phase, the Pdta is implemented with regional decree and published automatically updating the network path published on the dedicated website – said Cecilia Berni, organizational manager, and Cristina Scaletti, clinical manager – The regional Pdta on hypophosphatemic rickets is currently in the phase of multidisciplinary sharing as Pdta dedicated to the pediatric patient (responsible Dr. Baroncelli, A ou Pisana). The Pdta model already defined in Tuscany can in fact be superimposed with some additions to the model proposed by Ossfor, therefore the goal is to arrive at the definition of the text proposal for the consensus by the end of the year, proceeding to completion with the Pdta dedicated to the adult patient currently being drafted (responsible Professor Gonnelli, Aou Senese) “.
“Since the approval of the Regional Plan for rare diseases and its implementation (2017-2018), we have begun the work of planning and implementing the diagnostic therapeutic assistance paths – said Giuseppe Limongelli, director of the Coordination Center for Rare Diseases of the Campania Region – It is a complex job , which requires the active participation of a series of actors, from the Region with the Directorate General and the Drug Unit, to the Regional Commission for rare diseases, to the specific working groups for pathology in which regional experts in the sector participate, to rare disease associations , with a human and professional effort essential to achieve important results for fragile patients and often in search of their path The drafting phase is preceded by the analysis of the context, highlighting the critical issues and strengths, as we are doing now for the Pdta on X-linked hypophosphatemic rickets, on which we will shortly begin the drafting work “.
The meeting also revealed the need to deepen the characteristics of the professional and technological resources useful for the realization of the Pdta and the importance of adopting an “integrated approach”, capable of supporting the patient in the face of daily difficulties due to the pathology. A method that has been applied with particular success, in Italy and abroad, in the management of various chronic diseases through the implementation of care models, such as the Chronic Care Model and Disease Management.