Gene Correction for a Rare Disease


Angeles Guíllamón Fernandez, a patient with acute intermittent porphyria (AIP), shares her harrowing experience before gene therapy. AIP, which is caused by mutations in the PBGD gene in the liver, causes severe symptoms under stress, such as hormones and dieting. Traditional treatments provide only temporary relief, leaving patients like Angeles debilitated and anxious.

Researchers at the Centre for Applied Medical Research in Pamplona, Spain, have developed a groundbreaking gene therapy using a harmless viral vector. Initial trials since 2013 have shown promising results, with patients experiencing no side effects and healthy gene expression in liver biopsies. Researchers at UniQure in Amsterdam are optimistic about the therapy’s potential to significantly improve patients’ quality of life. Angeles herself expresses new hope for a future without AIP. Successful trials could soon make the therapy widely available, bringing hope to AIP patients worldwide.

The project was completed in 2015.


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