Our ApproachHSC Gene Therapy

Gene Therapy 101

Gene therapy stems from a conviction that we can do better than the standard of care in diseases caused by a genetic mutation.

By delivering functional copies of the mutated gene, we aim to enable patients’ own bodies to produce a sustainable supply of the therapeutic protein they lack.

Our goal is to help patients live longer, spare them from painful and debilitating symptoms and untether them from the burden of chronic treatments.

Learn more by reading our gene therapy overview article.

Watch the video below to learn more about the science of gene therapy.

AVROBIO’s product candidates are investigational and their safety and efficacy have not been established.  None of AVROBIO’s investigational gene therapies has been approved by the U.S. Food and Drug Administration or any other regulatory agency.


Gene Therapies to Treat Rare Genetic Diseases

Lysosomal storage disorders

The human body is made of trillions of cells, each containing many organelles. Organelles have specific functions.

For example, lysosomes contain proteins responsible for digesting cellular waste.

These lysosomal proteins are encoded by genes that are made of DNA, and are responsible for how our cells and organs function.

Some people are born with a mutation in a certain gene, which can cause a genetic disease.

Lysosomal storage disorders are rare genetic diseases caused by mutation of a gene that codes for a single lysosomal enzyme.

The missing or defective protein in the lysosome impacts lysosomal function and can affect the whole body.

Because lysosomal storage disorders are caused by single gene mutations that result in specific enzyme deficiencies, AVROBIO is investigating the potential of using gene therapy to treat such disorders.

Function of gene therapy

Gene therapy seeks to use genetic material, instead of medication or surgery, to treat diseases caused by specific mutations.

Gene therapy aims to correct a genetic defect by delivering a normal gene to cells.

Therefore, rather than simply managing symptoms, gene therapy is designed to address the root cause of disease.

There are different ways to provide gene therapy.

To treat lysosomal storage disorders, AVROBIO is developing ex vivo gene therapy an investigational approach which allows for the gene to be integrated into the cell's DNA.

Let's explore this in more detail:

Investigational ex vivo gene therapy to treat lysosomal storage disorders

In the first step of AVROBIO's investigational ex vivo gene therapy, patients receive a medication that stimulates their bone marrow to release blood stem cells into the circulation.

These cells can produce all the different types of cells found in the blood.

Blood stem cells are then taken from the patient, and in the lab, a normal gene is transferred into the cells using a vector.

A vector is an inactivated virus that is unable to spread or reproduce.

A vector carries the functional gene to blood stem cells. The cells are harvested, frozen and thawed until time of infusion.

The patient then goes through a conditioning regimen to ensure adequate space is available in the bone marrow for new stem cells.

The patient's own modified stem cells are then delivered back to the patient in a one-time intravenous infusion.

The stem cells return to the bone marrow, reside in the newly created space, and divide.

Some stem cells stay in the bone marrow, while others differentiate to produce mature blood cells.

In this way, new blood cells that contain the functional gene are created, and move throughout the body via the blood.

These cells produce the lysosomal protein that was missing, thereby reaching all tissues in the body.

With greater scientific experience and hundreds of patients participating in clinical trials, ex vivo gene therapy may offer an innovative way to treat rare genetic diseases by aiming to correct the root cause of disease, leading to potentially life-long therapeutic effects.

While AVROBIO is conducting clinical trials to assess the safety and effectiveness of gene therapy in lysosomal storage disorders, this technology could also potentially be used to treat many other types of diseases caused by gene mutations.

Lentiviral gene therapy for lysosomal storage disorders is still investigational and has not been approved by the U.S. Food Drug Administration or any other regulatory agency.


Explore more

Our Pipeline

Learn more about our pipeline of investigational gene therapies.

The plato® Platform

Meet plato®, our proprietary platform for gene therapies.

Our Views

Read insights from our leadership team.