VAL-1221 Pompe Disease (GSD-II)


VAL-1221 is a recombinant fusion of the proprietary delivery antibody 3E10 with GAA (acid glucosidase), the missing enzyme in GSD Type II (Pompe disease).

GSDII (Pompe Disease)

Glycogen storage disease type II (GSD-II) is a rare autosomal recessive disease caused by the deficiency of acid-glucosidase (GAA), which degrades lysosomal glycogen.  The established incidence of GSD-II in 1 : 9,000 births.  It is classified by age at onset of clinical signs and symptoms.

Myozyme is currently approved for treatment and has shown success in lyosomal replacement of GAA.  In many patients with Pompe disease, there is a buildup of glycogen in both cytoplasm and autophagic vacuoles that endocytic/lysosomal-targeted GAA (Myozyme) does not address.  This buildup of glycogen outside of lysosomes contributes greatly to disease pathology (in addition to lysosomal accumulation) and the damage it causes cannot be later addressed by re-addition of GAA simply to lysosomes.


Valerion has initiated clinical studies with VAL-1221 in Pompe patients in the US and in Europe.  The Phase 1/2 trial is a randomized, international, parallel active control, dose escalation study designed to evaluate the safety, pharmacokinetics, pharmacodynamics and immunogenicity of VAL-1221 in up to 12 patients with late-onset Pompe disease.  Results from this study are intended to not only show that VAL-1221 can treat Pompe disease by delivering GAA to muscle better than Myozyme, but to also validate that the antibody platform has the ability to deliver a functional cargo into cells where it is needed.  Top-line results of the study are expected in late 2018 and if successful, registration studies will be initiated shortly thereafter.

Valerion Pompe Fact Sheet