an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research.
B M C Pediatrics, 2013, Vol 13
Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't