Hospital Universitario “12 de Octubre” Madrid

Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network

The Unit of Inherited Metabolic Diseases (IMD) belongs to the “12 de Octubre” University Hospital and to the Hospital 12 de Octubre Health Research Institute in Madrid (“i +12”). The activity of the group started in the late ’80s and was focused on the clinical and biochemical characterization of the mitochondrial respiratory chain deficiencies and the identification and characterization of mutations in the mitochondrial DNA. Progressively, the healthcare provider’s area of expertise and contribution to care expanded, as the team did.

Currently, the area of expertise of the Healthcare Provider within the ERN covers all the IMD described so far and the multidisciplinary team includes paediatricians, internists, dieticians, neurologists and neuropediatricians, neuropsychologists, neuroradiologists, neuropathologists, biochemists, geneticists and molecular biologists, all of them with large expertise in inherited metabolic diseases.

Specific focuses are Mitochondrial disorders and pyruvate metabolism, Carbohydrate and fatty acid oxidation disorders, Urea cycle, amino- and organic acids related disorders, Lysosomal disorders, Porphyrin and hem metabolism disorders.

Since 2009, when the expanded neonatal screening was implemented in the Madrid region, the paediatric team is responsible for the detected cases born in the southern area of the region.

Since January 2015, the HCP has been designated as a National Reference Centre (CSUR) for the treatment of IMD by the Spanish Ministry of Health and for this reason receives and manages patients with IMD from all over the country. Since 2016, the center is also part of MetabERN.

Since 2020, the center rely on both pediatric and adult clinical trial units, infrastructures that are permitting the access to patients of more and new treatments, including gene therapies.

Hospital Universitario 12 de Octubre is one of the foremost health care complexes in Spain. It is a National Reference Center for several diseases, permitting the access to all Medical and Surgical paediatric and adults subspecialties, to Neonatal, Paediatric and Adult Intensive Care Units (with ECMO and hemodiafiltration availability) and solid organ transplantation program.

The patient is placed in the centre of the system, in order to improve the quality of care and therefore their quality of life. The team maintains a bilateral communication with the patients’ associations to ensure patient centred care and patient empowerment, performing joint research actions, disseminating the research results, organizing educational and training activities, as dietary workshops.

HCP participates in national and international stable research structures. It belongs to the “CIBER on Rare Diseases” (CIBERER – U723), to the National Genomics Medicine Program (IMPACT of Precision Medicine), to the research network for rare neurological diseases (RareGenomics), to the GENOMIT network (established national hubs for the biochemical and genetic diagnosis and care of patients with mitochondriopathies).