Andalusia has 29 Centres, Services and Units of Reference (CSUR) specifically related to rare diseases, following the Health Ministry’s recognition of four additional hospital services in recent months, said Antonio Sanz, the region’s first vice-president and minister for the Presidency, Health and Emergencies. He spoke at the 11th International Congress on Orphan Drugs and Rare Diseases, organised by the Spanish Federation for Rare Diseases (FEDER) and held in Seville.
Andalusia has 56 CSUR in total. The rare-disease services include care for congenital adrenal hyperplasia, shared by Virgen del Rocío University Hospital and Puerta del Mar University Hospital; diverse sexual development; and complex chronic paediatric ventilatory support, with the latter two services at Virgen del Rocío. Sanz also said Andalusia is part of 10 European Reference Networks. He estimated that half a million people in the region could have a rare disease.
Sanz cited the region’s 2025–2029 Plan for the Care of People with Rare Diseases (PAPER), which has a budget of €8.7 million and includes 109 measures in primary and hospital care. The plan aims to improve care for patients and families, including by speeding up diagnosis and reducing waiting times. Andalusia currently screens for 34 conditions through its newborn heel-prick test. Five more conditions have been approved for addition: biotinidase deficiency, congenital adrenal hyperplasia, severe combined immunodeficiency, spinal muscular atrophy and X-linked adrenoleukodystrophy. The national health system’s common service portfolio has set a target of 22–23 conditions.
A pilot screening programme for adrenoleukodystrophy at Virgen del Rocío has identified the first case, Sanz said. Preparations are under way at Málaga Regional Hospital to introduce the screening and extend it across Andalusia. The region is also working to add screening for galactosaemia, Pompe disease and familial hypercholesterolaemia. Sanz said early detection can make it possible to intervene in the first hours of life and prevent severe disabilities.
He said the amount spent on orphan medicines dispensed by hospitals in the Andalusian Health Service (SAS) had risen by 27.16% in six months. The region is administering Vyjuvek, which is used to treat wounds in patients with epidermolysis bullosa, to 13 patients, despite the Ministry’s refusal to fund it, according to Sanz. Omaveloxolone, a medicine for Friedreich’s ataxia, was added to the SAS pharmaceutical benefit in March 2026, and its use has been authorised for 70 patients.
Andalusia currently has 811 clinical studies related to rare diseases: 628 clinical trials, 172 observational studies and 11 studies involving medical devices. Sanz said these represent 20% of active clinical studies in the region’s health system. Of the trials, 261 are in Phase I or II. The regional health department has also allocated €1.2 million in 2026, co-funded by European Regional Development Fund money, for strategic rare-disease research projects.
The Andalusian School of Public Health provides training for health professionals on early detection and diagnosis. It also offers patient and family resources and is preparing a clinical guide to amyotrophic lateral sclerosis (ALS), with working groups developing guides on achondroplasia, Turner syndrome and pulmonary hypertension. Sanz announced that the Progreso y Salud Foundation, together with patient associations, is preparing an annual event on rare-disease research in Andalusia. Researchers, health managers, patients and families are expected to meet in Granada in February 2027.