What Role Do Genes Play in Hemophilia?

To understand the science behind gene therapy research, we first need to understand the roles of genes. Genes are inside all of the trillions of cells that make up the human body. Think of genes as instruction manuals that tell the body how to make proteins, such as blood clotting factors.

Sometimes there are changes in genes that affect a person’s health. These are called mutations. In hemophilia, when the F8 or F9 gene has a mutation, it makes limited, dysfunctional, or no FVIII or FIX clotting protein. This results in delayed or deficient clot formation and the potential for increased bleeding.

Now that you understand the basic genetics behind hemophilia, you might wonder if there is a way to address hemophilia at its source—the gene? In fact, investigational gene therapy, an approach that aims to do just that, is being researched in hemophilia right now.

Explore the science of gene therapy research at HemophiliaForward.com.

Investigational Gene Therapy’s Potential Application for Hemophilia

Today, many clinical trials are underway to evaluate investigational gene therapy and its potential application for hemophilia. The goal of this research is to evaluate a transition in the treatment experience—aiming to move from recurrent treatment interventions with highs and lows in clotting factor levels to a potential single or infrequent intervention. The idea is to move to a continuously expressed factor level, with the hope of preventing spontaneous bleeding episodes.

The goal of investigational gene therapy is to address hemophilia at its source—the gene. One approach being studied is to deliver a new, functional copy of a gene into the cell by a vector with the aim of producing blood clotting factors.

You might be wondering, “What is a vector?” A vector is a modified virus. By removing the viral genetic information, the new functional gene can be placed inside the viral-based shell for transport. Once delivered into the body by IV infusion, the vector can travel to its target—the liver cells. If transferred into liver cells successfully, the new functional gene is intended to provide the correct instructions for making FVIII or FIX clotting protein.

Safety and efficacy have not been established. Studies of investigational gene therapy are ongoing, and participants continue to be followed. So, it is important to speak with your healthcare team, ask questions, and be informed.

Explore the science of gene therapy research at HemophiliaForward.com.