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.


Human Gene Therapy Clinical Development