Phase I/II trial of diaphragm delivery of recombinant adeno-associated virus acid alpha-glucosidase (rAAaV1-CMV-GAA) gene vector in patients with Pompe disease

Document Type



Paediatric Surgery


A recombinant virus vector constructed from adeno-asso-ciated virus (AAV) has been engineered to carry the humanacid alpha-glucosidase (hGAA) gene expressed from thecytomegalovirus (CMV) enhancer/promoter. The constructhas been shown to produce hGAA in animal models ofPompe disease, which directly matches the proposed humanstudies. The proposed clinical trial is an open label, phase I/II study administering rAAV1-CMV-GAAgene vector in-tramuscularly into the diaphragms of human subjects withPompe disease. Safety parameters will be measurement ofchange in: serum chemistries and hematology, urinalysis,muscle function testing, whole blood assay for vector ge-nomes, immunologic response to GAA and AAV, as well asreported subject symptom history.


This work was published before the author joined Aga Khan University.

Publication (Name of Journal)

Human Gene Therapy Clinical Development