Hi everyone! I'm Sophie and I'm about to enter graduate school for public health. Both my dad and my aunt have PXE, but their lifestyles and the progression of their disease are quite different! I was surprised to learn that there haven't really been any formal studies that characterized the role of exercise and overall nutrition on PXE. So here are my humble thoughts!
It looks like many of the ideas on this discussion page center around patients' positive anecdotes about maintaining a healthy diet and exercise regimen as part of an effort to keep PXE and its associated effects under control. I think a general, baseline study on the effects of nutrition and exercise on PXE would be valuable and would pave the way for future, more specific studies. The broad hypothesis that nutrition and exercise play a role in slowing down progression of/potentially reversing PXE symptoms is compelling because PXE, which may be a metabolic disease itself, shares many similarities with other chronic, metabolic diseases (such as diabetes, cancers, hypertension, metabolic syndrome, and cardiovascular diseases) that have been shown to be affected by nutrition and exercise.
I think a potential study approach would be:
1) Develop an patient interview with questions about the severity and number of their symptoms, what they eat, what nutrient supplements or medications they take, how much they exercise, what other diseases/conditions they have, and other factors that could play into access to food and exercise, such as socioeconomic status.
2) Measure patients' height, weight, blood pressure, any quantifiable PXE symptoms, and other relevant characteristics
3) Possibly collect biological samples so that epigenetic or genetic markers may be identified.
I think this would be a very feasible study to carry out in the short term (maybe a longer-term study could be a longitudal cohort one), as PXE International already has a survey and biobank in place with hundreds of reponses/samples from PXE patients, so a lot of our data could come from there.