Journal paper reviews gene therapy in GSDs

Published on 22 June 2019, a paper in the journal “Human Molecular Genetics” reviews the current state of development of gene therapy for glycogen storage diseases (GSDs). It is a retrospective review so cannot be fully up-to-the-minute, but gives a good general overview.

As you know…

Glycogen storage diseases are rare genetic conditions which result in deficiency of enzymes involved in the storage of glucose as glycogen and conversion back to glucose when needed. Broadly, GSDs can be divided into types that affect the liver or muscles, or both.

Drive for gene therapies

The lack of good existing therapies for the GSDs has driven efforts to develop gene therapies. The objective of these gene therapies is to enable the production of the deficient enzymes in the target tissues, and this has guided the planning of gene therapy experiments.

Progress made on five GSDs

Various delivery methods for gene therapy have demonstrated some success in animal models for GSDs including the liver, heart, and skeletal muscle, replacing the deficient enzyme in each disease.

Gene therapy has advanced to early phase clinical trials in GSD1a and GSD2 (Pompe disease). Other GSDs, including GSDs 3, 4 and 5, have been addressed in proof-of-concept studies.

Future prospects are good

Gene therapy is a rapidly developing field of medical research. The future appears promising for GSDs, with the prospect of providing improved therapies for these disorders, perhaps within a decade.

Read the abstract

We understand that the full paper will be available with free public access in due course. In the meantime you can read the abstract or purchase a full copy:

Visit the journal web site to read the abstract or purchase the paper.

Photo: It is just a bit of fantasy, dreaming of the physical repair of a strand of DNA.