Study Status: RECRUITING
Recruit Status: RECRUITING
Study Type: OBSERVATIONAL
Official Title: Fabry Exercise Intolerance Study (FEISTY)
Brief Summary: Patients and healthy controls will undergo cardiopulmonary exercises and testing of the muscles strength to gain additional understanding of exercise intolerance as Fabry disease (FD) manifestation.
An additional needle muscle biopsy may be performed.
Tissue analysis from this biopsy will include evaluation of the lipidomics profile and mitochondrial function.
Results of the tests and any potential exercise intolerance will be compared against healthy, age-, sex- and BMI-matched volunteers.
The hypothesis is that patients with FD will have reduced exercise capacity due to changes in skeletal and cardiac muscle energy metabolism.