Efficacy and safety of sebelipase alfa in children and adults with Lysosomal Acid Lipase Deficiency: results of a phase 3 trial

s 429 GD. 2) In this small trial, two novel mutations for FH were detected raising the possibility that many more mutations may be uncovered when GD becomes more widespread. 3) GD may justify advanced therapies for FH. 4) The clinical process for GD is technically simple, welltolerated and appreciated by patients but reluctance toward genetic counseling is a practical challenge. 5) Expense and insurance coverage may be further obstacles for GD of FH.