What We’re Working On

February 2016

Potential DRUG


Anti-Sense approach: ASOs and RNase-H Decrease glycogen synthase -by targeting GS, PTG, and glycogenin  Effect is on p.Y329S exonic mutation. Animal model POC (Lafora/APBD) in progress. Expect results mid 2016. If successful, Ionis   needs to build

humanized GS mouse model

Ionis Pharma. Dr. Minassian
Anti-sense approach: Alternative splicing Reverse the intronic mutation responsible for compound heterozygote patients. Development of mouse model and POC proposed, reviewed by SAB, & recommended on (12/2015). Ionis, Dr. Akman
TGMO (2) Stabilize existing GBE 2nd Proposal received 12/2015-Waiting for manuscript Drs. Escriba, Kakhlon, Akman
Guaiacol Decrease glycogen synthase activity POST POC Proposal with SAB and grants being submitted Dr Akman, Dr Kakhlon
Terpin Decrease glycogen synthase activity Awaiting proposal. Dr Akman
Triheptanoin Alternative energy source Clinical trial ended 12/2015 – to be unblinded soon Dr Schiffmann/ Ultragenx -not funded by APBDRF
Peptide Stabilize existing GBE SAB review underway. Partners being sought Dr Kakhlon

Dr Yue


TFOs Decrease glycogen synthase activity Awaiting proposal Dr Kakhlon
PMI Project High Content Screening (HCS) A 3 year proposal received. SAB review underway. Partners being sought. Tel Aviv University, Dr Kakhlon
POC = Proof of Concept