Rare Diseases: experimental approaches to diagnosis and therapy

A multidisciplinary team will follow the patient throughout the entire course of therapy. Abruzzo will be the first region in Italy to take part in this experimental and innovative approach to treating rare diseases, but the objective is to get other Italian regions involved as well.

The experiment begins with hereditary amyloidosis

The number of rare diseases known and diagnosed ranges from 7,000-8,000, but this number is destined to rise as advances are made in scientific research. According to Ansatwo million people suffer from rare diseases in Italy. The cause of many of them is still unknown, but it is certain that almost all of these diseases are serious and often chronic and progressive. The most well-known rare diseases include hemophilia, cystic fibrosis and multiple myeloma.

Hereditary amyloidosis is a serious pathology that mainly effects the nervous system. It is an autosomal dominant disease caused by mutations in the transthyretin gene (TTR). The mutation results in amyloid protein misfolding, causing amyloid fibrils to enter the nervous system, the heart and in the gastrointestinal tract. Symptoms in patients can vary. Some patients mostly experience symptoms of polyneuropathy or cardiomyopathy while many others experience a mixed phenotype that includes sensory-motor and autonomic neuropathy and heart symptoms. The first symptoms vary greatly among patients, even when dealing with the same mutation or cases in the same family. The average age of onset is around 39, but this can vary as some cases have even been diagnosed at 20. ATTR amyloidosis can bring about disability and death. 50,000 people worldwide suffer from hereditary amyloidosis.

What does experimentation entail?

The project was presented in Pescara on July 5 by Silvio Paolucci, the Assessor for Health of the Abruzzo Region, and Antonio Di Muzio, Head of the Regional Center for Neuromuscular Diseases at the Policlinico in Chieti.

The role of the general practitioner is fundamental to this project as they will be involved in training and awareness programs. The goal is to educate people about the main symptoms of the disease in order to direct patients immediately to a reference center where a multidisciplinary team will study the case, form a diagnosis and identify the most suitable plan of therapy. The team helps preserve the patient’s quality of life and avoid exams and treatments that are inappropriate, invasive or unduly expensive for the health system. A similar “on-site” concept is the “virtual multidisciplinary doctor” developed by Domedica through its Patient Support Programs. Multidisciplinary teams are in line with the holistic approach to patient care that considers a patient as a whole, made up of a body, mind, and spirit, with emotional and psychological needs too.

This experiment is also open to implement technological and pharmacological technologies that involve research on the disease, guaranteeing patients involved an excellent level of assistance. “Our main objective”, Silvio Paolucci explains, “is to provide patients very specific reference points which represent an important beacon in a moment of comprehensible disorientation when diagnosed with a rare disease… a protocol that can, in turn, be repeated for other diseases, not only in Abruzzo, but in other regions in Italy “.

The project’s centers of expertise for rare diseases is in line with programs focused on promoting Italian Excellence.

© Domedica s.r.l.

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