Peroxisome Biogenesis Disorders of the Zellweger Spectrum (PBD-ZSD) are a group of inherited genetic disorders caused by mutations in any one of 13 PEX genes. Individuals with the common PEX1-G843D mutation consistently develop a retinopathy that progresses to blindness. To test whether we could slow visual loss in these patients, we performed a proof-of-concept trial for PEX1 retinal gene augmentation therapy using our mouse model homozygous for the equivalent PEX1-G844D mutation.

With the imminent emergence of personalized medicine and the availability of costly targeted drugs comes the crucial allocation of ressources within the halthcare systems. Determining which treatment options should be funded has become an increasingly difficult task. Decision-makers are relying heavily on pharmacoeconomic (PE) evalutions to decide which of them will be most effective and safe—but also, which will most improve the quality of life of patients and which will be most valued by society.

Peroxisome Biogenesis Disorders of the Zellweger Spectrum (PBD-ZSD) are a group of inherited genetic disorders caused by mutations in any one of 13 PEX genes. Individuals with the common PEX1-G843D mutation consistently develop a retinopathy that progresses to blindness. To test whether we could slow visual loss in these patients, we performed a proof-of-concept trial for PEX1 retinal gene augmentation therapy using our mouse model homozygous for the equivalent PEX1-G844D mutation.