In order to improve the experience of our users, the Programme integrates both care and other areas with the goal of steadily improving not only treatment, but also appointment procedures and connections between services and with other healthcare facilities outside the hospital itself, such as primary care. The Rare Diseases Programme also aims to be open to patients and patient associations, enabling them to help us implement more user-centred care.

However, there can be no doubt that the cornerstone of the Rare Diseases Programme is formed by the specialists who attend to these users every day. Thanks are owed to their dedication and hard work aimed at enriching our knowledge of these illnesses.

The main lines of action in the Hospital de Sant Pau's Rare Diseases Programme are:

Endocrinology

• Complex hypothalamic-hypophysiological pathologies (adults).

• Genetic disorders of glucose and insulin homeostasis (adults).

• Rare thyroid disorders (adults).

Genetics

• Genetic-based behavioural cognitive disorders (adults).

Haematology

• Red blood cell disorders (hereditary erythropathology) (adults).

• Bone marrow failure and rare haematopoietic disorders (adults).

• Haemostasis disorders (adults).

Oncology

• Sarcomas and other musculoskeletal tumours (adults) .

Pneumology

• Diffuse interstitial lung disease (adults).

• Non-cystic fibrosis bronchiectasis (adults).

Nephrology (in collaboration with the Puigvert Foundation)  

• Autosomal dominant polycystic kidney disease. (adults).

• Alport syndrome. (adults).

• Autosomal dominant tubulointerstitial kidney disease. (adults).

• Fabry disease. (adults).

• Tuberous sclerosis. (adults).

• Von Hippel-Lindau disease. (adults).

• Tubulopathies. (adults).

• Glomerular diseases (ANCA-associated vasculitis, lupus nephropathy, IgA nephropathy, membranous nephropathy, membranoproliferative nephropathy and C3 dipopathy). (adults).

Neurology

• Rare neuromuscular diseases (adults).

• Rare diseases with epilepsy (adults).

• Rare diseases with movement disorders (adults).

• Hereditary ataxia and spastic paraplegia (adults).

• Rare diseases with cognitive disorders (adults).

Paediatrics

• Rare diseases with epilepsy. In collaboration with Hospital del Mar.

• Red blood cell disorders (hereditary erythropathology).

• Bone marrow failure and rare haematopoietic disorders. 

• Haemostasis disorders.

• Bladder exstrophy-epispadias complex and cloacal exstrophy. 

• Congenital anomalies of the urethra and urinary tract: urethral duplication, posterior urethral valves, neurogenic bladder, megabladder-megaureta syndrome, prune belly syndrome and VACTERL/VATER association. In collaboration with the Puigvert Foundation. 

• Complex hypospadias. In collaboration with the Puigvert Foundation.

• Alteration of sexual differentiation. In collaboration with the Puigvert Foundation

• Cystinuria. In collaboration with the Puigvert Foundation. 

• Urogenital tumours. In collaboration with the Puigvert Foundation. 

Rheumatology (in collaboration with the Puigvert Foundation)  

• Systemic autoimmune diseases (adults).

Urology (in collaboration with the Puigvert Foundation)  

• Bladder exstrophy-epispadias complex and cloacal exstrophy (adults). 

• Congenital anomalies of the urethra and urinary tract: urethral duplication, posterior urethral valves, neurogenic bladder, megabladder-megaureta syndrome, prune belly syndrome and VACTERL/VATER association (adults).

• Complex hypospadias (adults).

• Alteration of sexual differentiation (adults)..

• Cystinuria (adults).

• Urogenital tumours (adults).