Barcelona’s Sant Pau Research Institute is studying Alexandra Peraut’s progeria as part of long-term work on premature ageing. For readers in Barcelona following rare disease news, the key point is simple, this is research, not a treatment announcement.
According to Sant Pau Research Institute, the team led by Manel Esteller will look at Alexandra’s genome, epigenome and microbiome, along with metabolic markers, inflammation and other factors linked to biological age. The institute says Alexandra is Spain’s only child diagnosed with progeria.
The first results are expected in at least two years, according to Sant Pau. That means families in Barcelona should treat this as a long-term research project, not something that will change care straight away.
Progeria, also known as Hutchinson-Gilford syndrome, is a rare genetic condition caused by a mutation in the LMNA gene. The Cleveland Clinic says it affects about one in 20 million people worldwide, and around 140 children and young adults are currently living with it.
Alexandra’s early signs included poor weight gain, hair loss and thin skin at about age two. Her family was first guided towards genetic testing by a paediatrician familiar with rare diseases, then to Hospital Sant Joan de Déu, before Carlos López-Otín at the University of Oviedo confirmed the diagnosis within three days after receiving blood samples.
Alexandra also received support from the Progeria Research Foundation in the United States, and she travelled to Boston for tests and an experimental trial. Esther and Cédric Peraut founded the Alexandra Peraut Progeria Association in 2019 to support other families and raise funds for research.
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