This happened, for example, for acetazolamide (for PMM2-CDG, NCT04679389), oral GlcNAc Supplementation (for NGLY1 deficiency, NCT05402345), ManNAc (for GNE myopathy, NCT04231266), AVTX-803 (for Leukocyte Adhesion Deficiency type II, NCT05462587O). This evidence concerns the gene PMM2 and GNE myopathy.