Recently, the Baylor Metabolic Institute completed a six-year clinical controlled study of triheptanoin oil for treating APBD. This oil is made from caster bean—containing seven carbon atoms whereas foods have an even number—that circumvents the GBE and provides 500 calories without producing more polyglucosan bodies. The results of the study have not yet been submitted to the FDA for approval.
Baylor Research Institute
With the guidance of a scientific advisory board, the APBDRF has sponsored multifaceted research to reach a cure. This includes the following three approaches: (1) Increasing GBE activity (by stabilizing the mutated GBE with a peptide and other small molecules); (2) Lowering the accumulation of polyglucosan bodies in the cells (by down regulating glycogen synthase with compounds and antisense oligonucleotides); and (3) Correcting the non-functioning gene itself in compound heterozygotes (by using antisense oligonucleotides). We anticipate that the cure will be a combination of different approaches.