Contributions to the gene therapy journey for the rare disease community

Huge strides have been made in the field of gene therapy over the course of a single generation, and momentum is growing, as we have been seeing at the annual meeting of the American Society of Gene & Cell Therapy (ASGCT) in May. I’m proud that Pfizer’s presentations are demonstrating the depth and breadth of our contributions to this important field.

Driven by a determination to achieve new breakthroughs for the benefit of patients, we are continually investing and innovating in emerging technologies such as gene therapy. At present, we have three ongoing gene therapy clinical trials, and anticipate adding a fourth this year, pending regulatory approval. Each such ongoing and anticipated trial is focused on monogenic diseases. What’s more, we have 10 gene therapy programs at a pre-clinical stage, across multiple therapeutic areas – including rare hematology, neurology, cardiology and metabolic diseases.

Among the updates we are presenting at ASGCT is one on our Phase 1b study of the safety and tolerability of a potential treatment for ambulatory boys with Duchenne muscular dystrophy. We will also present on our pre-clinical research into the potential of adeno-associated virus (AAV) mediated delivery for other genetic diseases such as Friedreich’s ataxia, hemophilia, complement component C2 deficiency, and galactosemia.

The use of custom-made or recombinant AAV vectors features in a number of our research programs. In simple terms, a potential treatment is delivered directly to targeted cells through an intravenous or intrathecal infusion, using a ‘vector’ – a protein shell that harbors the genetic elements that we plan to deliver. If successful, when it reaches the target cell the functioning gene is transferred into the nucleus and used to produce the missing or non-functioning protein, without directly affecting or permanently altering the patient’s own genetic material.

We believe innovative approaches such as this have significant potential, particularly for monogenic diseases, and are constantly looking for ways to broaden their application across different disease areas.

Pfizer’s Rare Disease Research Unit has tremendous bench strength, with around 250 employees dedicated to the research, development and manufacturing of gene therapy-associated medicines. However, collaboration is key. Here at the cutting edge of medical science, it’s vital that we continue to collaborate with external partners across several disciplines – we believe this will give us the greatest chance of developing successful treatments for the benefit of patients.

I’ve seen tremendous progress during my career, but this is a continuing journey and we still have much to learn. Of an estimated 7,000 rare diseases, just 5% have an approved treatment option. Importantly, behind each disease, there are individuals, families, care givers and health care professionals who are looking to us and others to provide effective treatments for life-changing conditions. Our mission is to develop and deliver disease-modifying solutions to these communities, in an urgent and deliberate manner.

This is what gets me and my colleagues up every morning, with renewed determination. I anticipate the message from ASGCT will be that we are making progress, we are continuing to learn, and we are actively collaborating to drive innovation forward.