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A Gene Therapy for Fabry Patients, A Derelict Dream

Since the early 2000s, Fabry patients around the world have had access to an enzyme replacement therapy which requires biweekly transfusions at a considerable cost to governments, individuals, and institutions (Alegra et al., 2012). The enzyme replacement therapy treatment is administered via intravenous infusion (Alegra et al., 2012). These treatments are often accompanied by additional medications, such as antihistamines prior to infusion to lessen the chance of infusion related reactions (Alegra et al., 2012). Enzyme replacement therapies have been shown to make a considerable impact on the nerve fiber density, neuropathic pain, as well as reductions in GL-3 buildup in the heart, kidney, and skin, and most importantly, the quality of life of the patients (Alegra et al., 2012). However, they also act as a significant burden to patients and their families due to the necessity for regular treatments throughout the lifespan.

In 2020, to the excitement of Fabry patients, researchers in Canada announced that they had successfully used gene therapy in animal models of Fabry disease to raise the level of alpha-galactosidase A (Fabry Disease News, 2020). Alpha-galactosidase A acts to break down a fatty substance called GL-3 and therefore reduce problems in the kidneys, heart, skin, brain, nerves, and intestinal tract (Fabry Disease News, 2020). In theory, gene therapy would enable Fabry patients to receive a single treatment that would be more effective and free patients from the bi-weekly commitment to enzyme replacement therapies (Khan et al., 2021). In 2021, there was one patient who was nearly 3 years from his infusion date and was doing measurably better, and no serious safety concerns were identified in the early pilot studies (Khan et al., 2021).

This treatment, which was initially developed in a public setting in Canada, was soon sold to Avrobio. Avrobio is a clinical-stage biotechnology company that specialises in developing single-dose gene therapies and programs to resist and reverse the impacts of many rare diseases (Bloomberg, 2022). They are currently developing gene therapies for Gaucher’s Disease, Cystinosis, and Pompe Disease (Bloomberg, 2022). However, about one month ago, Avrobio announced that it was deprioritising the Fabry disease program as a result of various considerations. The company indicated that this decision was made due to “an increasingly challenging market and regulatory environment for Fabry disease” (Avrobio, 2022). Enrolment of patients in this clinical trial have now stopped and the company has committed to continuing the monitoring of previously dosed patients for 15 years, as required by regulators (Avrobio, 2022).

This announcement brought about great disappointment in the Fabry community, with many patients feeling abandoned, and others feeling as though they’ve lost hope for an alternative treatment for their lysosomal storage disorder. Others have privately stated that they wonder if the outcomes of this decision may have been different if the development of this gene therapy had stayed in the public setting.

Our hope is that by studying Social Pharmaceutical Innovation (SPIN), and through the understanding and development of alternative development pipelines, and the use of private-public partnerships, financial considerations will not be at the forefront of determining treatment for patients. Instead, through the empowerment of social pharmaceutical innovation, we hope that international collaboration will be better able to foster an environment for drug development to address the unmet needs of rare disease patients all around the world.



Alegra, T., Vairo, F., de Souza, M. V., Krug, B. C., & Schwartz, I. V.D. (2012). Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis. Genetics and Molecular Biology, 35(4), 947-954. 10.1590/s1415-47572012000600009

Avrobio. (2022, January 4). AVROBIO Reprioritizes Pipeline Programs. Investor Relations : AVROBIO. Retrieved February 18, 2022, from

Bloomberg. (2022, 2 17). Avrobio Inc - Company Profile and News. Bloomberg. Retrieved February 18, 2022, from

Fabry Disease News. (2020, December 27). Gene Therapy for Fabry Disease – Fabry Disease News. Fabry Disease News. Retrieved February 18, 2022, from

Khan, A., Barber, D. L., Huang, J., Rupar, C. A., Rip, J. W., Auray-Blais, C., Boutin, M., O'Hoski, P., Gargulak, K., McKillop, W. M., Fraser, F., Wasim, S., LeMoine, K., Jelinski, S., Chaudry, A., Prokopishyn, N., Morel, C., Couban, S., Duggan, P. R., … Medin, J. A. (2021). Lentivirus-mediated gene therapy for Fabry disease. Nature Communications, 12(1178), 1-9. 10.1038/s41467-021-21371-5

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