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Presented today in the room of the refectory of the Chamber of Deputies, in collaboration with the Parliamentary Intergroup for Rare Diseases, MonitoRare – the 4th report on the state of people with diseases rare in Italy 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.
Spending on rare diseases in Italy is increasing over three years, from 917 million euros in 2013 to 1599 million euros in 2013, an increase of 74.4%. And in the same period, its impact on total pharmaceutical expenditure increased by 54%, from 4.7% to 7.2%
These are some of the data from the IV report on the condition of people with diseases rare in Italy of 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.
The report, which takes the name of MonitoRare was presented today at the Sala del Refettorio of the Chamber of Deputies, in collaboration with the Parliamentary Intergroup for Rare Diseases
. for this edition, the collaboration of the actors of the rare community, from the Ministry of Health, the Regional Centers of Coordination of MR, AIFA, CNMR-ISS, Orphanet, Telethon, BBMRI, TNGB, Chemical Chemical Pharmaceutical Plant, SIMMESN We provided updated data to draw the rare diseases scenario in our country and confront Europe.
Born four years ago intuition that a challenge as demanding for the national health system as rare diseases could not even be solved without a tool for measurement and evaluation From the magnitude of the problems, MonitoRare offers a general framework with data on epidemiology, access to diagnosis, treatment, badistance, as well as the socio-economic organization. sanitary, legal and 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 2017 full of news 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 the RM groups are "open" to allow the exemption of all rare diseases attributable to a group, even if they are not punctually listed.
"In this legislature, rare diseases will occupy a fundamental place, both with regard to the publication of the new guidelines (very little expected), and with regard to the LEAs, but in the attention specific to social and health needs The health of rare patients can not be discriminating under any circumstances, starting with the right to treatment and work.We aim to ensure the best care available, not even strictly pharmacological and we prepare a law that their ensures the possibility of working without prejudice, "adds Senator Paola Binetti President of the Rare Diseases Parliamentary Intergroup
In 2017, the implementation of the new neonatal screening was finally launched Hereditary metabolic diseases The process has been long and complex, but institutions, PAs and badociations of people with Rare have been working for a long time to come to the Decree of the Ministry of Health of October 13, 2016 "Provisions for the launch of neonatal screening for the early diagnosis of inherited metabolic diseases" that is happening with different speeds in the territories.
A very important step since about 3000 newborns are born in Italy with more than 800 conbad metabolic diseases and the timely diagnosis allows to adopt, from the first days of life, the necessary therapies to improve the course of the disease.
"Law 167, which extends extended neonatal screening to more than 40 pathologies throughout the national territory, puts Italy at the forefront of Europe and represents a step forward important in reducing health inequalities, yet not enough. "- 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 do not have any. have not yet implemented the law, in part or all. 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 soon as possible, also sensitizing prospective parents on what is a right of all born children. Information on birthing points is still insufficient and health personnel, often undervalued for specific needs, can not always spend the time needed to explain what is the purpose of the levy. 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 also engaged in the field more general of the intervention for the disabled, represented by the definition of intervention programs of the fund for badistance to severely disabled people without family support, part of the much wider law n / 112 / 2016, better known as the law of "After us": 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 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 begun in 4 regions.
L & # 39, information on drugs for rare diseases is also encouraging and Italy shows some institutional sensitivity allowing access to drug treatment. different 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 in the market.
AIFA also plays its role with Law 326/2003, Article 48 through which 82 people have a rare illness (compared to 126 claims (65.1%)) who used the fund for a total amount of expenditure 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 medicines that represent hope but are waiting for commercialization.
Giuseppe Secchi – GDL Rare Diseases and Orphan Drugs Assobiotec – Federchimica, Rare Diseases is an area in which the biotechnology industry, including national, has brought and makes a huge contribution, both from the point of view of research than that of investments. 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 MonitoRare project, an interesting and in – depth information and education tool for all the actors of the sector. "
Beside the certainly positive aspects of the new regulatory and social framework, some remain negative, among them:
– failure to set up the National Committee provided for by the National Plan for Rare Diseases (PNMR) 2013 -2016
– unsuccessful evaluation of RMNP 2013-2016
– failure to launch new national sectoral planning.
"Although first RMNP, conducted in collaboration with representatives of people rare diseases, has borne fruit, the same document stresses that rare diseases are not only a challenge but also an important laboratory of "health and public health" "As the data of MonitoRare show," says Tommasina Iorno President of Uniamo Fimr onlus. "These are pathologies with 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 accompany the path of life of those who live 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 the School and professional 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 truly adequate responses to 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 RMNP as soon as possible, with already one year We are late are ready "concludes the president of UNIMO FIMR onlus
MonitoRare was presented at a conference during which he took stock of some chapters of the report: Social Responsibility, Research and Assistance. The important Registries issue was devoted to an intervention by Clementina Radio for Orphanet Italy, Domenica Taruscio for CNMR-ISS, Paola Facchin, coordinator of the Technical Interview Panel on Rare Diseases, Sandra Petraglia, Director of Independent Research Representative AIFA, Maria Luisa Lavitrano, coordinator of BBMRI.
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