Standardising clinical outcomes measures for adult clinical trials in Fabry Disease: A global Delphi Consensus

MORENO MARTINEZ D; AGUIAR P; AURAY BLAIS C; BECK M; BICHET; BURLINA A; COLE D; ELLIOT P; ROZENFELD PA; HUGHES D

MOLECULAR GENETICS AND METABOLISM

ACADEMIC PRESS INC ELSEVIER SCIENCE

Lugar: Amsterdam; Año: 2021 vol. 132 p. 234 - 243

1096-7192

Consensus results of this initiative included: the selection of the adaptative clinical trial as the ideal study designand agalsidase beta as ideal comparator treatment due to its longstanding use in FD. Renal and cardiac outcomes,such as glomerular filtration rate, proteinuria and left ventricular mass index, were prioritised, whereas neurologicaloutcomes including cerebrovascular and white matter lesions were dismissed as a primary or secondaryoutcomemeasure. Besides, therewas a consensus regarding the importance of patient-related outcomes such asgeneral quality of life, pain, and gastrointestinal symptoms. Also, unity about lysoGb3 and Gb3 tissue deposits asuseful surrogatemarkers of the diseasewas obtained. The group recognised that cardiac T1mapping still has potentialbut requires further development before its widespread introduction in clinical trials. Finally, patientswith end-stage renal disease or renal transplant should be excluded unless a particular group for themis createdinside the clinical trial.Conclusion: This consensus will help to shape the future of clinical trials in FD. We note that the FDA has, coincidentally,recently published draft guidelines on clinical trials in FD and welcome this contribution.