PCR135 Characterizing Most Bothersome Symptom and Minimal Clinically Important Difference to Establish Patient-Relevant Endpoints in Fabry Disease

Abstract

Fabry disease (FD) is a rare genetic disorder due to deficiency of lysosomal enzyme, α-galactosidase-A. The Fabry Disease Patient-Reported Outcome (FD-PRO) instrument consists of 19 items that measure neuropathic symptoms (pain, tingling, numbness and burning in upper/lower extremities), headache, abdominal pain, heat intolerance, swelling, tinnitus, fatigue, hearing/vision impairment, hypohidrosis, and difficulty engaging in regular physical activities. Each item is evaluated on a 0 (no symptom) to 10 (symptom at its worst) numeric rating scale (NRS).