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
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.
Human Gene Therapy Clinical Development
Byrne, B. J.,
Lawson, L. A.
(2014). 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. Human Gene Therapy Clinical Development, 25(3), 134-163.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_surg_paediatr/123