Our aim is to find therapeutic solutions for neglected orphan diseases: pathologies so rare that others have unfortunately deemed it difficult to implement a medicine development and registration plan.

Today in the EU, a rare disease is defined as a disease affecting less than one in two thousand people.

About 80% of recognized rare disease are pathologies of genetic origin, while the remaining 20% ​​are typically multifactorial diseases derived not only from individual characteristics, but also from other factors (for example: comorbidities, certain environmental factors, food) or from the interaction between genetic and environmental causes.

(source: https://www.iss.it/malattie-rare )

Our commitment today is geared towards two serious rare diseases: SBS (short bowel syndrome) and CDD (congenital diarrheal disorders). The first is a disorder caused by the reduction of the intestinal surface necessary for the absorption of liquids and nutrients. CDD, on the other hand, refers to a group of rare hereditary enteropathies characterized by severe chronic diarrhea in the first months of children’s life. Both SBS and CDD frequently cause chronic diarrhea, massive dehydration, metabolic acidosis or alkalosis, and malnutrition: symptoms that can occur quickly and be life-threatening for patients.

It’s estimated that SBS affects approximately between 1 and 9 people in every 100,000.
(Source: orpha.net | sigenp.org)

Focus: How rare are rare diseases?

300 million people around the world.

It is estimated that more than 300 million people worldwide suffer from a rare disease, including over 30 million in Europe. Of the around two million rare disease patients in Italy, approximately 1.4 million are pediatric patients. (osservatoriomalattierare.it).


Early Access Programs (EAPs) are programs offering access to experimental medicines – or to medicines not yet authorized in a particular country – for patients with rare or very serious diseases for which no other treatments exist. Access to these programs is regulated by ethical, compliant and controlled mechanisms. Only a doctor, under her/his responsibility, has the right to indicate whether a person suffering from a serious illness will be able to access these programs.

EAPs may be considered in the early stages of the development of medicines showing promising results for patients who cannot participate in clinical trials because, for example, the patients do not meet inclusion criteria. Sometimes, these programs are the only option to provide life-saving medicines to severely ill patients, considering that even the approval processes of these medicines can take years.