In Italy 100,000 patients are undiagnosed. ::. PH

They are sick, but they cannot name their diseases. They struggle to understand which centers of reference to turn to or to find other people who share the same experience, and also for their rights to be recognized. They are the people, about 100 thousand in Italy, “without a diagnosis”. For them, there is a dedicated world day, which falls on Saturday 30 April.

They are sick, but they cannot name their diseases. They struggle to understand which centers of reference to turn to or to find other people who share the same experience, and also for their rights to be recognized. They are the people, about 100 thousand in Italy, “without a diagnosis”. For them, there is a dedicated world day, which falls on Saturday 30 April.

To raise public awareness about this issue, the Bambino Gesu Pediatric Hospital and the Observatory for Rare Diseases, in collaboration with the Hoppen Foundation, organized a conference that gave voice to the needs and requests of these patients, but also of clinicians and researchers who were involved in the issue. The day they support them in their diagnostic journey (here to review the event). The conference was held thanks to the non-adaptive contribution of Farmindustria and Thermo Fisher Scientific.

According to the National Institute of Health, the undiagnosed are about 6% of the rare patients – hence the 100,000 estimate for Italy – which rises to 40-50% if we consider only rare pediatric patients with disabilities. Mental or picture syndromes (data from the National Institute of Health – NIH).

“Diagnosis is one of the mainstays in the path of those with a rare disease, but it is also the first major hurdle that must be faced: on average up to 4.8 years late, 1 in 3 patients receives a misdiagnosis with consequent lack of adequate treatment. , and even then there is still a segment of people who do not reach a diagnosis. The good news is that things are improving, especially thanks to the new tools of genetic and epigenetic analysis, which today cost up to 100,000 times less than 20 years – explained the professor. Bruno Dallapicola (Here is his speech), Scientific Director of the Bambino Gesu Children’s Hospital, a hospital that in 10 years has finally been able to provide a diagnosis to 1,000 children and adolescents – today, thanks to these investigations, we are able to provide a diagnosis for about 2 out of 3 cases, the goal now is to do so in shorter times since when “.

“The disease is there, but it has not been diagnosed, so it has no name. This makes the patient and his family invisible. Like POLIFEMO who asks Ulysses: Who are you? And this answers: None. Here those who have not been diagnosed are: Nobody, like this Federico Maspes, president of the HOPEN Foundation, described this case. “At first you were groping in the dark, not knowing what to do,” recalls Masps, who has lived through what he calls “endless ordeal” since the birth of his daughter Clementina in the 1990s. “When he was eight months old, he had a delayed weight gain that began a bumpy journey made up of misdiagnoses, denials, hasty hypotheses, and endless rounds between specialists. A common path for many — said Maspps — keep going until someone warns you of the possibility That your daughter’s illness remains undiagnosed. It took years to get out of the tunnel, and I only finally realized that my wife was right to devote her love to Clementina, while I frantically searched for an answer, not being able to enjoy it, to accept it.” With this in mind, the HOPEN Foundation was born, which decided to become the reference point for all those families who live without being able to rely on the certainty of the diagnosis, ensuring the essential starting point for taking charge, rationalizing treatment. Track and use the benefits provided by law.

HOPEN has been collaborating for years with the Bambino Gesù Children’s Hospital, where there has been an outpatient clinic for rare patients without diagnosis since 2016, within the Rare Diseases and Medical Genetics Operating Unit that he manages Andrea Bartoli. “Since the clinic opened, it has treated more than 1,670 patients, 400 of them in the last year alone, 10% of the total seen at the hospital – said Dr. Andrea Bartoli, Head of Rare Diseases and Clinical Genetics at Bambino University Children’s Hospital in Gesu – not from It is always possible to give a name to the disease, but tremendous progress is being made thanks to increasingly updated diagnostic tools and accumulated experience.Suffice to say that if 30% of patients presented to the clinic reach a diagnosis in 2016, the proportion in 2022 is almost 70% This is also more than doubled. This is also thanks to advances in exome sequencing, which we applied to 700 families between 2019 and 2022, arriving at 455 new diagnoses. Identifying the gene responsible for or implicated in disease development is important for families directly affected, but it is also It represents an advance for science and society.Thanks to the activity of the Medical Genetics Laboratory, directed by Dr. Antonio Novelli, and the field of research directed by Dr. Marco Tartaglia, it has become possible to discover new disease genes in these years, and this will also allow us to re-evaluate the “unresolved” cases In light of recent discoveries: It’s like working and trying to solve “colds” of rare diseases. Thanks to the creation of a specific database, it has happened repeatedly to call patients after years, and finally to be able to give them an answer, thanks to this new knowledge. However, diagnosis is not just an access point, but also a stepping stone to researching treatments, building animal models, and then moving on to real trials that hopefully will lead to effective treatments for these as well. rare cases. Because everyone should have a chance.”

It has happened several times, in fact, that people who did not receive a diagnosis in the past, after the discovery of new genes and diseases and greater knowledge of the associations between mutations and symptoms (genotype-association-phenotype) were called and were able to give a name to their pathology.

In addition to seeking a diagnosis, and thus the ability to hope for future treatments, people with rare, undiagnosed diseases also need a health and social care facility that is able to consider the needs of their particular condition. Of these, Federico Maspes, President of the HOPEN Foundation emphasized: “The diagnosis may never arrive, in the meantime we need a code that makes us known in the health system and gives us access to rights: first of all, the definition of the code from the exemption for undiagnosed diseases, completely Like many diagnosed rare and chronic diseases.The law will allow access to exemption from required genetic testing, facilitate applications for access to school support and Social Security, with traceable reference to activation of retirement and disability allowance practices.Temporary R99 code is currently in place, and is valid on hold. To check for a suspected rare disease, but it is applied in a way that is not completely standardized between regions.” The code is just one of the requests recently brought to the health department’s attention by the senator. Paula BennettiChairman of the Parliamentary Rare Diseases Group with a question But the needs of the “ghosts of rare diseases” are many. “There is a need – as the senator said – for a greater strengthening of genomics, including all of these diagnostic investigations at the LEA. Getting a diagnosis is often the key to accessing effective medical and social care, but ironically if there is no diagnosis there is not even code number and thus inaccessible to certain next-generation tests. Expensive but undoubtedly more accurate, like genetic tests, and not related to many other rights that belong, instead, to those with code.”

Therefore, the call for more investment in genomics, not just in the field of oncology, is being widely shared by patients, researchers, institutions and also by the business world. In fact, he also expressed himself in this case Marcelo Cattani, Coordinator of the Rare Diseases Working Group at Farmindustria. “In the field of rare diseases, it is necessary to share knowledge also at the international level, with the creation of networks between the different centers. Because to get approval for an orphan drug it is not enough to study the molecule, we must first understand how the disease works. From this point of view, companies occupy Leading medicines, where they are committed to advancing the field science from which extraordinary therapeutic innovations are expected A process that can be supported and accelerated by the European Orphan Drug Regulation thanks to the acquisition of more than 2,500 orphan drug designations and more than 200 rare disease drugs since their approval in 2000 until 2021. It has a positive impact on the health and lives of millions of rare disease patients in Europe. This is why it is imperative that any revision of the Regulations continues to favor research and development of new treatments in such a delicate and complex field.”

At the conclusion of the conference, Dr. Antonio GaudiosoHead of the Technical Secretariat of the Minister of Health who thanked the constant invitation, dialogue and discussion with the Observatory of Rare Diseases and said: “There is not always the possibility of providing a concrete answer to the needs of patients, but when science and technology give us options, it is our duty to make them usable. We realize that in many Cases There have been delays in making diagnostic and therapeutic innovation available to citizens and we are working to make sure these times disappear drastically. Thank you for our participation and for the ongoing discussion with the Ministry of Health, I hope that soon there will be an opportunity to come together to deepen these issues and work together if possible.”

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