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It was presented today in the room of the refectory of the Chamber of Deputies, in collaboration with the Parliamentary Intergroup for Rare Diseases, MonitoRare – the IV Report on the The state of people with rare diseases in Italy carried out by the Italian Federation of Rare Diseases UNIAMO FIMR onlus and thanks to the unconditional contribution of Assobiotec the National Association for the Development of Biotechnologies which is part of Federchimica
Fundamental, also for this edition, the active collaboration of many actors of the rare community, beginning with the Ministry of Health, Regional Coordinating Centers of the MR, AIFA, CNMR-ISS, Orphanet, Telethon, BBMRI , TNGB, Chemical Pharmaceutical Chemical Plant, SIMMESN who provided updated data to draw the scenario of rare diseases in our country and deal with Europe
N Four years ago intuition was such a demanding challenge for the national health system that rare diseases could not even be treated without an instrument to measure and badess the magnitude of the problems. , MonitoRare provides a general framework with data on epidemiology, access to diagnosis, treatment, badistance, as well as the socio-sanitary, legal and environmental organization. economic. A useful tool for optimizing existing resources and intervening in critical areas for the overall sustainability of the system.
Many new features of this Report thanks to a rich news 2017 on rare diseases. On the scenario, adaptation by Regions / PPAA, to the new list of rare diseases referred to in art. 52 and Annex 7 of the DPCM "Definition and update of the essential levels of badistance, referred to in Article 1, paragraph 7, of the Decree-Law of 30 December 1992, No. 502", regional networks for rare diseases with the identification of relevant regional registries and rare diseases (RRMR). All regions / PPAA have fulfilled the task even if some after the 180 days of the entry into force of the decree, published in the Official Journal of 18 March 2017.
The list of LEA news is increased by 110 entities which they are distributed between individual rare diseases and groups. The update proposal was developed in collaboration with the Interregional Table for Rare Diseases. The list has therefore been completely reorganized: in particular, it provides that RM groups are "open" so as to allow the exemption of all rare diseases attributable to a group, even if they are not punctually listed. [19659004″Danscetermelesmaladiesraresoccuperontuneplacefondamentaleàlafoisencequiconcernelapublicationdesnouvelleslignesdirectrices(trèspeuattendues)etencequiconcernelesLEAmaisc'estdansl'attentionspécifiqueauxbesoinssociauxetsanitairesLesdroitsdespatientsraresnepeuventêtrediscriminantsenaucunecirconstanceàcommencerparledroitautraitementetautravailNousvisonsàbadurerlesmeilleurssoinsdisponiblesmêmepbadtrictementpharmacologiquesetnouspréparonsuneloiquibadureilspeuventtravaillersanspréjugés»ajoutelasénatricePaolaBinettiprésidentedel'intergroupeparlementairedesmaladiesrares9659004] In 2017, the implementation of neonatal screening extended to about 40 hereditary metabolic diseases was launched. The process has been long and complex but institutions, PAs and badociations of people with rare diseases have been working for a long time to reach the decree of the Ministry of Health of 13 October 2016 "Provisions for the launch of neonatal screening for early diagnosis Hereditary metabolic diseases "is happening with different speeds in the territories.
A very important step since every newborn born about 3000 born in Italy with one of more than 800 innate metabolic diseases and timely diagnosis allows you to adopt, from the first days of life, the necessary therapies for improve the course of the disease
"The 167 law, which extends to the whole of the national territory the neonatal screening extended to more than 40 pathologies puts Italy on the front line in Europe and it represents a step forward important in terms of reducing health inequalities, which is not enough though "- adds Prof. Giancarlo La Marca, President SIMMESN – In fact, even today, more than a year after the law came into force, there are regions that have not yet made the decision. operational law, in whole or in part. However, it should be emphasized that while the 2016 Italian report on the study of hereditary metabolic diseases and neonatal screening indicated that only 53% of Italian newborns had access to expanded screening, today estimates coverage is greater than 80%. The goal, however, is the total coverage that must be achieved as early as possible, also sensitizing prospective parents on what is a right of all born children.
Information in birthing places is still insufficient and the medical staff, often under-sized for specific needs, is not always able to spend the time necessary to explain what is the purpose of tax. Once the total coverage is reached, it will be essential to insert new diseases in the screening panels, I think lysosomal diseases, immunodeficiencies, certain leukodystrophies, creatine deficiencies, adrenobad syndrome, lympha AMS and hemoglobinopathies. For this we need funding, we hope to get them as soon as possible and start with the experimentation that normally precedes the extension to the national panel. "
The Regions have also engaged the broader field of intervention aimed at the disabled, represented by definition of the intervention programs of the Fund for Assistance to the Severely Disabled without Family Support, part of of the much wider law No. 112/2016, better known as the "After us" law: to date, the effective implementation of the care and protection measures provided by the Fund set up with a budget of 90 million euros for the year 2016 and 38.3 million The euros for the year 2017 are not yet tangible in all the territories.In fact, the interventions made possible by the allocated resources have only started in 4 regions.
Information on drugs for rare diseases is also encouraging and Italy shows some institutional sensitivity allowing access to treatment addiction various legislative instruments, in addition to those available at European and international level to try to meet as much as possible the needs of patients. Last but not least, the implementation of the competence of the Military Chemical Pharmaceutical Factory of Florence, an important non-profit public body, which allowed to respond quickly to the needs of citizens who had no longer access to their drug because of its disappearance or scarcity on the market
AIFA also plays its role with Law 486/2003, Article 48 through which 82 people have a rare disease (compared to 126 claims (65 , 1%)) who benefited from the fund for a total amount of more than 14 million euros (7.4 million euros in 2016, 1.1 million euros in 2015) for the use of orphan drugs and drugs that represent a hope but expect marketing.
Adds, Giuseppe Secchi – GDL Rare Diseases and Orphan Drugs Assobiotec – Federchimica, that rare diseases is an area in which the biotechnology industry, including national, has given and makes a huge contribution, both from the point of view of view of the research as investment. The number of available therapies continues to grow and our country is playing a leading role with 21 therapies from 14 national biotechnologies and the extraordinary research that led to the development of the first ex vivo stem cell gene therapy. for the treatment of patients with rare ADA-SCID disease. Figures and facts certainly positive but do not erase the various problems that still exist in this area. Among the most important of all, surely that of too many late diagnoses. It is therefore essential to work to ensure that all diseases for which there is effective pharmacological or dietary therapy can be included in neonatal screening. The commitment of research and dissemination of knowledge in this area remain strong in the biotechnology industry. And in this last direction, the support, confirmed for the fourth year, goes to UNIAMO in the project MonitoRare,
interesting and comprehensive information and education tool for all stakeholders of
In addition to the certainly positive aspects of the new regulatory and social framework,
some negatives remain. Of these:
– Failure to Establish the National Committee Under the National Disease Plan
Rare (PNMR) 2013-2016;
– failure of the 2013-2016 PNMR badessment,
– failure of the launch of the new national sectoral planning
"Although the first PNMR, carried out in collaboration with representatives of people with rare diseases, has borne fruit, The same document shows that rare diseases are not only a challenge but also an important laboratory of "health and public health" as shown by the MonitoRare data, "says Tommasina Iorno, president of the group. Uniamo Fimr onlus. "These are pathologies with a great complexity of care and the impact on people's lives does not only affect the health plan, but the psychosocial of the whole family: isolation, discrimination Poverty often accompanies the path of life of those living with pathologies. We need a common approach in all territories to support these families, which also includes the aspect of social badistance and tools for educational and vocational integration. The new RMNP is urgent and includes dedicated resources, including social badistance and the inclusion of education and work, as well as the delicate phase of follow-up, in order to be able to provide answers really adequate for the needs of families in terms of sustainability. . It is here that we strongly urge the new minister to start working on the 2017-2020 PNRR as soon as possible, with already a year behind schedule. We are ready "concludes UNIAMO President FIMR onlus
MonitoRare was presented at a conference that took stock of some chapters of the report: Social Responsibility, Research and Assistance. An important Registries issue was dedicated to an intervention by Clementina Radio for Orphanet Italy, Domenica Taruscio for the CNMR-ISS, Paola Facchin, coordinator of the Technical Interview Panel on Rare Diseases, Sandra Petraglia, Director of the Commission. Independent Research Representative AIFA, Maria Luisa Lavitrano, Coordinator BBMRI
MonitoRare 2018: presented the 4th report on rare diseases – The synthesis:
The Report is rich in data and offers a photograph of the national system and the different regional systems.The structure of the relationship is divided into 5 macro-regions A, B, C, D, E. In the first section, we have in particular, the large number of resources to support people with rare diseases, in the second presents the Italian situation in the European context where several forces of the Italian system are confirmed, even though they are often characterized by obvious territorial inhomogeneities, particular on the side of the badistance; the third section is the largest and provides a more specific focus on the national and regional context, while the last section is devoted to updating data on the status of implementation of the actions envisaged by the Plan. National Rare Diseases 2013-2016
In the last section the conclusions
Some examples of the confirmed strengths of the rare diseases system in Italy are:
-accessibility of the drug: the number of orphan drugs generally available in Italy at the end of 2017 is equal to 94 1. The new AIFA authorizations over the past year have been 14, in line with the average for the three-year period 2014-2016 (equal to 15),
– the consumption of orphan drugs, from 2013 to 2017, are 69.3% increase in absolute terms and 66.6% in relative terms of total drug use,
– Spending on orphan drugs increased from 917 million euros in 2013 to 1,599 million euros in 2003. 2016 (+ 74.4%): in the same period, the impact of spending in orphan drugs on total pharmaceutical expenditure rose from 4.7% to 7.2% (+ 54%);
– the number of drugs for rare diseases included in the list of law n. 648/1996 went from 13 in 2012 to 28 in 2017,
-in 82 people with rare diseases (compared to 126 applications (65.1%)) who used the AIFA fund (in accordance with Law 326/2003 , art 48), for a total cost of more than 14 million euros (7.4 million euros in 2016, 1.1 million euros in 2015),
– quality and coverage of surveillance systems:
– increases the coverage of regional rare disease registries: the estimated prevalence of the RRMR population increases to 0.51% 0.30% of MonitoRare 2015. Based on the RRMR data the total number of people with a rare disease in our country could exceed 740,000 units with an estimated prevalence of 1.22% on the population [19659031] – which probably underestimates the coverage that is not yet complete of the population by some RRMR)
– only 1 person with the disease in 5 to less than 18 years; higher prevalence, albeit slightly, of women compared to men (52% vs. 48%)
– research
– slightly increases the weight of licensed clinical trials on rare diseases Overall clinical trials: from 20.0% in 2013 to 25.5% in 2017, but in the context of an overall drop in the number of studies last year (144 in 2017 compared to 164 in 2016 )
– the weight increases active ingredients of biological / bio-technological nature which represent 37.5% of total clinical trials on rare diseases, while active ingredients of a chemical nature rise to 51, 4%;
– the presence of Italian research groups in projects related to rare diseases included in the Orphanet platform: 19.9% in 2017, slightly lower than 2016 but above 18.3% in 2014
– 268 projects ongoing research on rare diseases conducted by IRCSS in 2017 (8.4% of the total, down from the previous year) for a value of more than 11.5 million euros (9 , 1% of total),
– 7.6 million euros (18.2% of total) targeted health care research resources invested in rare disease projects (marked increase over Previous year),
– clinical laboratories
– steady growth over the last five years in the number of diseases tested in the clinical laboratories considered in the Orphanet database which increase by more than 35% (from 1,107 to 1,503)
– the quality of Competence
-L & # 39; Italy is in first place among the number of health care providers (FSS) members of European Reference Networks (ERN): 189 out of 942 (20.1%) and Italian PSHs are present in all but one ERN (only France, Holland and Belgium are present in 24 ERN). There are on average 6 Italian PSH for each ERN
– the active participation of patients
– the representatives of the Italian patients involved in the 24 European patient protection groups (ePAG) formally constituted are 36 out of 218 (16.5%, they were 25 in 2017); there are 15 ePAGs out of 24 (62.6%) in which at least one Italian representative is present
– 3 representatives of people with rare diseases are members of the "Coordination Center"
on neonatal screening "provided for by Article 3 of Law No. 167 of 19 August 2016" Provisions in
mandatory neonatal diagnostic tests for the prevention and treatment of diseases
Hereditary metabolism
– A representative of people with rare diseases has been identified as a member of the National Coordinating Center of Committees of Territorial Ethics provided by law 11 January 2018, n. 3 "Delegation to the Government on Clinical Trials of Medicines and Provisions for the Reorganization of Health Professions and for the Health Management of the Ministry of Health"
On the other side of the coin is represented by the critical problems that persist. as:
– Territorial inhomogeneities in access to health, social-health and social services of which they may be
example:
– inequality in the geographical distribution of Italian hospitals participating in ERN: 66.7% (n =
44) hospitals participating in at least one ERN is located in the northern regions, 19.7%
(n = 13) in the middle and just 13.6% (n = 9) in the south, …);
– the different degree of regulation of the administration of pharmacological and non-field therapies
school subject to a specific discipline in 11 regions / PPAA
o the absence of relief programs in competent non-hospital hospitals
people with rare disease expected or ongoing only in 9 Regions / PPAA
– inability to adopt the necessary administrative tools to recognize and ensure adequate remuneration of counseling services to distance by centers / centers of competence; 19659004] – the absence of administrative and management solutions to evaluate the feasibility of remuneration methods that take into account the complexity of the care of the rare person in a hospital and territorial environment, [19659004] – the lack of involvement of badociative representatives with rare disease in the Organization for coordination and monitoring for the development of ERN (Ministerial Decree 27/07/2015 referred to in Article 13, paragraph 2 Decree-Law 4/3/2014 No. 38).
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