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AAV-mediated gene transfer for hemophilia.

Katherine High¹

¹University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, 19104, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|January 25, 2003

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Gene transfer using adeno-associated viral vectors shows promise for treating hemophilia. Long-term clotting factor expression was achieved in animal models and early human trials demonstrated safety and efficacy.

Area of Science:

Gene Therapy
Hematology
Molecular Biology

Background:

Hemophilia is an inherited bleeding disorder caused by deficient clotting factors VIII or IX.
Current treatments involve regular factor replacement therapy, which can be burdensome.

Purpose of the Study:

To establish an experimental basis for gene transfer as a treatment for hemophilia.
To evaluate the safety and efficacy of adeno-associated viral vector (AAV)-mediated gene transfer for hemophilia B.

Main Methods:

Utilized an adeno-associated viral vector (AAV serotype 2) for gene transfer.
Conducted studies in hemophilic mice and dogs, and a Phase I human trial.
Assessed gene transfer and expression using PCR, Southern blot, and immunohistochemistry.
Compared gene delivery via intramuscular injection versus portal vein infusion in dogs.

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Main Results:

Achieved long-term (>3 years) clotting factor expression in animal models, improving clinical symptoms.
Phase I trial of intramuscular AAV-F.IX showed no local or systemic toxicity.
Muscle biopsies confirmed gene transfer and expression.
Liver-directed gene transfer in dogs resulted in significantly higher circulating factor IX levels (5-14%) compared to muscle delivery (1-2%).

Conclusions:

AAV-mediated gene transfer is a viable strategy for long-term treatment of hemophilia.
Liver-directed gene transfer demonstrates superior efficacy for achieving therapeutic factor IX levels.
Further clinical trials of AAV-mediated liver-directed gene transfer for hemophilia B are warranted.