Fabry Disease Awareness Month: Looking to the Future of Treatment

When enzyme replacement therapy (ERT) for Fabry disease became available in 2003, it marked a major advance in the field. For the first time, people living with Fabry disease had a treatment option that provided some relief from their debilitating symptoms.

However, ERT brings with it some major burdens and also limitations. Patients must receive the bi-weekly treatment via intravenous (IV) infusion, which can take five hours or longer, causing a regular disruption to their lives. While ERT has been shown to slow disease progression , many people who receive long-term treatment still face kidney and heart complications.

As we acknowledge Fabry Disease Awareness Month, we also celebrate 20 years of scientific advancements and the relentless pursuit of a new, transformative medicine.

Now, there are new and exciting advancements on the horizon. Thanks to a better understanding of the genome, we are advancing a one-time investigational treatment designed to target the underlying cause of Fabry disease, rather than solely offering the symptom management of currently available treatments.

Patients with Fabry disease have a deficiency in a-Gal A, which is necessary for metabolizing Gb3, and build-up can cause serious damage to vital organs. Our developmental gene therapy isaralgagene civaparvovec, or ST-920, the cornerstone of our Fabry program at Sangamo, targets the GLA gene and aims to address this deficiency in a-Gal A.

People living with Fabry disease face an onslaught of symptoms and complications, including numbness and pain in hands and feet, gastrointestinal upset like abdominal pain and frequent bowel movements, and cardiac and kidney conditions. In addition, issues with blood flow in the brain can lead to strokes and similar conditions.

Physical symptoms and the burden of today’s treatment options are just part of what Fabry patients and their families face.?Depression is prevalent among this patient population. This emotional burden stems from a variety of sources, including how challenging it is to diagnose the condition, the difficulty in dealing with the symptoms daily, and concerns about how it will affect family members and the patient’s future.?

At Sangamo, we believe genomic medicines have the potential to make a difference for patients by changing the course of their disease and alleviating the burdens it brings. Our hope is that a single infusion of ST-920 will provide long-lasting relief for these patients.

The compelling data we shared last quarter from the STAAR study demonstrated a favorable safety profile and evidence of clinical benefit from strong biomarker data to kidney biopsies and improved SF-36 general health scores. Importantly, all patients who began the dose escalation phase of the study on ERT have since withdrawn from the therapy, suggesting that Sangamo’s ST-920 may offer a viable alternative to ongoing ERT treatments.

As we continue to carefully advance decades of scientific experience to deliver cutting-edge medicine, we are excited by this progress and hopeful for the future. We remain committed to fulfilling the promise of genomic medicine to transform patients’ lives.

Authored by Nathalie Dubois-Stringfellow , Ph.D., Chief Development Officer at Sangamo Therapeutics