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UMC Utrecht discovers treatment for rare disease PXE

Photo: UMC Utrecht

UMC Utrecht has discovered an effective treatment for the rare, inherited disease PXE. Patients with this disease suffer from calcifications in the skin, the blood vessels and the retina in the eye. As a result, they may have to deal with skin damage, vascular diseases and severe visual impairment. Researchers at UMC Utrecht have now discovered that an existing drug, etidronate, causes the calcification to be inhibited.

In the Netherlands there are about 400 patients with PXE (pseudoxanthoma elasticum). Until now there was no treatment for them. "A total of 74 patients participated in the one-year study. By treating them with the existing drug etidronate, we saw that there was an inhibition of vascular calcification and fewer eye complications, "said Wilko Spiering, internist-vascular physician. "The latter is important because they are largely responsible for eventual serious visual impairment and thus reduced quality of life."

The TEMP study is the largest clinical study ever conducted among PXE patients. The aim of the study was to investigate the efficacy and safety of the bisphosphonate etidronate in PXE patients. "Patients with PXE reduce the levels of pyrophosphate," says Spiering. "Administration of this substance to people is technically not possible, but existing drugs, so-called bisphosphonates, resemble this substance and show an inhibition of (vascular) calcification."

Unfortunately for PXE patients, the drug is etidronate no longer available in the Netherlands. Spiering and his colleagues were able to obtain the drug through a manufacturer in Greece. "To our surprise, the manufacturer wanted to provide the means for the research. Now that the research is showing such positive results, we want to do everything we can to make the drug available again in our country. "Together with the Healthcare and Youth Inspectorate (IGJ) and the Medicines Evaluation Board (MEB), we look at how the medicine can become available again in the Netherlands.

Calcifications in the retina often lead to severe visual impairment and even social blindness. But the disease also causes typical skin damage and serious vascular disease such as shop window legs and strokes. This makes PXE patients often anxious about what awaits them in the future. Spiering: "Future studies should show the effects of an early start of this treatment and whether the feared complications can be prevented. We naturally strive for that. "

UMC Utrecht houses the National Expertise Center for PXE (LEP). Within this center several experts work, such as an internist vascular physician, ophthalmologists, radiologists, vascular surgeons and dermatologists. This unique collaboration enables patients within one center to contact all experts in the field of this rare disease. In one day, patients receive all the necessary examinations necessary to get the best possible picture of the possible damage to the eyes, blood vessels and skin. The center also promotes scientific research into PXE.

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