Malalties Minoritaries

A rare disease is a serious and uncommon disease that affects a low number of people: less than 5 out of every 10,000 people. Around 80% of rare diseases are genetic in origin.

They generally involve a number of organs and affect the sufferers' physical capacities, metal abilities and sensory and behavioural qualities. The condition may be visible from birth or childhood, but there are some that do not become apparent until adulthood. They are serious or very serious, chronic and usually degenerative diseases and they have great repercussions on the whole family.

There are currently more than 7,000 different rare diseases that directly affect the everyday lives of more than 30 million people in Europe alone. Living with a rare disease is a learning experience every day for the patients and their families. Although they have different names and symptoms, rare diseases affect the everyday lives of the patients and their families in a similar way.

The Hospital de Sant Pau is a member of the Rare Disease Platform

The European Reference Networks (ERN) enable specialist professionals and centres in different countries share knowledge.

ERNs have to apply the criteria of the European Union (EU) to deal with rare diseases that require specialist treatment, acting as research and knowledge centres that treat patients from other countries within the EU and ensure the availability of treatment facilities as required.

The Hospital de la Santa Creu i Sant Pau currently participates in:

  • ERN, European Commission 
  • Rare adult cancers
  • Rare neuromuscular diseases


Sant Pau is a benchmark center in the following rare diseases:

* Blood diseases – Allogenic hematopoietic progenitor cell transplantation in children. CSUR

* Rare neuromuscular diseases in adults. CSUR, XUEC, ERN.

* Sarcomas and other musculoskeletal tumors in adults. CSUR, ERN.

* Bladder exstrophy, epispadias, and cloacal exstrophy in children and adults. CSUR.

* Complex glomerular diseases in children and adults. CSUR, XUEC, ERN.

* Hereditary red blood cell disorders in children and adults. CSUR, ERN.

* Complex hypothalamic and pituitary disease in children and adults. CSUR, XUEC, ERN.

* Systemic autoimmune diseases. XUEC.

* Epilepsy/rare diseases in children and adults. CSUR, XUEC.