CREATIVE CONVERSATIONS WITH CARMELO CAMMARDELLA
Publication FEBRUARY 2022 | FRI COMMUNICATION
LIVING WITH A RARE DISEASE: THE EVOLUTION OF MEDICAL RESEARCH.
IN EUROPE, THERE IS A CONTINUOUS GROWTH OF PEOPLE AFFECTED BY RARE DISEASES, AND THE NUMBER OF NEW CONDITIONS IS INCREASING, THANKS TO MORE ACCURATE DIAGNOSTIC TOOLS. IT IS ESTIMATED THAT APPROXIMATELY 20-30 MILLION PEOPLE ARE AFFECTED BY RARE DISEASES IN OUR CONTINENT, WITH ABOUT 2 MILLION OF THEM BEING IN PEDIATRIC AGE, ESPECIALLY IN ITALY.
Diagnosis is often challenging, and patients spend years of their lives not knowing the exact condition they have. The average time for diagnosis is around 4 years but can extend up to 7 years. For many individuals, receiving a diagnosis brings relief as they can finally put a name to their suffering and embark on a potential therapeutic path.
However, this path often proves to be quite challenging. It starts with the difficulty of finding a hospital center affiliated with the national network for rare diseases that can provide a diagnosis or proper care. It then extends to the complexity of locating local facilities that can meet the patients’ care needs, such as rehabilitation centers.
Thus, the management of rare diseases at the territorial level presents a significant challenge for the National Healthcare System. It is crucial to identify individuals with the highest vulnerabilities, regardless of the availability of pharmacological therapies, and ensure optimal management within their living context.
Patient associations and national observatories often come to the aid of patients with initiatives aimed at improving the quality of life for those affected. One example is the O.Ma.R – Rare Diseases Observatory. It benefits from the contribution of various pharmaceutical companies and is now recognized as one of the major and most reliable sources of information on rare diseases, rare tumors, and orphan drugs.
Through the technical table of the Rare Diseases Alliance (AMR), the observatory develops useful proposals to promote the development and full implementation of management and care policies for people with rare diseases and to support the development of orphan drugs. These proposals are inspired by principles of equality, gender parity, reciprocity, and mutual benefit.
The Higher Institute of Health (ISS) also institutionalizes its activities on rare diseases with the establishment, in 2001, of the National Rare Diseases Registry (DM279/01). This registry is the first significant surveillance tool to understand the epidemiology of these conditions and support national and regional planning.
With a view to strengthening the ISS National Centre for Rare Diseases, the Single Text on Rare Diseases came into force on 12 December 2021 (Law 175/2021) whereas it lays down provisions for the treatment of such diseases and for the support of research and production of orphan drugs.
However, the law is not yet in the implementation phase and patients are clamoring to be heard and welcomed. Annalisa Scopinaro, president of UNIAMO, Italian rare disease federation, calls for the approval of the tariff nomenclator of the LEA for 2023, which is holding firm for rare diseases and recognition of pathology; enactment of implementing decrees for the 175; national rare disease plan approval with dedicated funding, expansions of screening to other diseases; strengthening of rare disease departments.
There is also a long way to go on the treatment front because for many years rare diseases have been ignored by doctors, researchers and institutions.
Progress has been made over time, and both the EMA and AIFA have established a series of incentives for pharmaceutical and biomedical companies to help find remedies.
This has allowed important therapeutic advances such as, for example, spinal muscular atrophy, Duchenne muscular dystrophy and cystic fibrosis. In particular, of considerable interest and attention are the ATMP (Advanced Therapy Medicinal Products” – advanced therapy medicinal products). They include gene therapies, somatic cell therapies and engineered tissue medicines that are allowing and will increasingly allow in the future to transform the course of some diseases hitherto considered incurable.
For instance, ATMP can replace or correct defective genes in rare genetic diseases. Cellular therapies aim to replace diseased cells with healthy ones or corrected patient cells generated through genetic engineering, as seen in CAR-T therapies.
ATMP, along with other innovative therapies, are also attracting interest in treating more common conditions like cancer and neurodegenerative diseases (e.g., Alzheimer’s and Parkinson’s). The pharmaceutical industry itself recognizes the importance of finding new effective drugs for rare disease patients, stating, “For people with a rare disease, having a cure for the condition they have lived with since birth is an unforgettable moment of emotion. It is a first step toward a better quality of life. That new drug can bring a realistic hope for healing and living a life free from the disease.”
CONDIVIDI SUI SOCIAL