Gene Therapy

Latest News in Gene Therapy

Learn More About Gene Therapy

A comprehensive document identifies 50 various publications about gene therapy, much of it accessible for parents and patients. The list includes: FAQs, guides for patients and caregivers, a glossary. Download here.

Gene Therapy’s Slow Start (September 2024)

Multimillion-dollar gene therapies were long awaited and desired, but patients were unsure whether insurance would cover the costs. So far, very few patients are taking gene therapy — even as few as four or five people. Does the slow rollout show a disconnect between cutting-edge science and patient benefit? Read more here.

New Resource Compilation on Gene Therapy for Hemophilia (September 2024)

Learn about Gene Therapy for Hemophilia with NBDF’s new resource collection. Find answers, research, and support. The National Bleeding Disorders Foundation (NBDF) is excited to share a new collection of resources about Gene Therapy, especially for those in the Hemophilia community. This collection includes easy-to-understand scientific articles, answers to common questions, and a glossary of key terms.

Pfizer Announces New Data from Hemophilia A Gene Therapy Study (August 2024)

Pfizer has announced positive topline results from their phase 3 clinical study of giroctocogene fitelparvovec, the company’s investigational hemophilia A gene therapy. 

BioMarin to Narrow Its Commercial Focus for Hemophilia A Gene Therapy (August 2024)

BioMarin recently announced that they will be changing the scope of their efforts to manufacture and market their gene therapy product ROCTAVIAN.™ The product was first approved in the summer of 2023 for the treatment of adults with severe hemophilia A without antibodies to adeno-associated virus serotype 5 (AAV5) detected by an FDA-approved diagnostic test.

France Gets Gene Therapy (July 2024)

Hemgenix, the first approved hemophilia B gene therapy, was administered to two patients in France, marking the first time the treatment has been given in Europe. Hemgenix had already been approved in the US and in Canada, and most recently in Switzerland, for patients age 18 and older with severe or moderate hemophilia B. Read more here.

Defining Gene Therapy for Patients (July 2024)

Gene therapy is a welcome treatment for patients, which has been anticipated for decades. But how do parents and patients discuss this with their HTC staff, when they don’t know the language of science associated with gene therapy? A bleeding disorder gene therapy lexicon is currently being developed by various industry stakeholders, which is highly needed for dissemination of the complexities of gene therapy to patients, caregivers, and healthcare providers. Read MASAC Document 285.

What May Be on the Horizon for Hemophilia Treatment

Gene therapy research continues to evolve. As more information becomes available, the below may help you better understand gene therapy and shared decision making within an evolving treatment landscape. Read more.

An Update on Gene Therapy for Hemophilia (July 2024)

Answers to common questions about this potentially game-changing treatment. Read more.

Gene Therapy Candidates Face ‘Once in a Lifetime’ Choice (June 2024)

People with hemophilia considering gene therapy are wrestling with concerns including the cost of treatment and variations in results. Read more.

Green Bay Resident Became First Wisconsinite to Receive Gene Therapy Treatment for Hemophilia A (May 2024)

A Green Bay resident became the first Wisconsinite to receive a gene therapy treatment for hemophilia A since it was approved by the FDA in June. Read more.

First Sickle Cell Patient to Receive Gene Therapy Featured in NYT (May 2024)

Sickle cell disease is linked to an abnormality in the hemoglobin protein, which normally helps carry oxygen throughout the body via red blood cells. This causes red blood cells, normally disc shaped and flexible enough to travel smoothly in the body, to become rigid and misshapen to resemble a “C” or sickle. Read more.

FDA Approves Second Hemophilia B Gene Therapy Product (November 2022)

The U.S. Food and Drug Administration (FDA) has approved BEQVEZ™ (Pfizer, Inc.), a new hemophilia B gene therapy product. The therapy is administered as a one-time intravenous infusion to stimulate the long-term production of clotting factor IX (FIX) and prevent bleeding. This represents the second hemophilia B gene therapy product to be approved in the U.S. – the first was approved in the fall of 2022. Read more.

Gene Therapy

Genes contain DNA — the code that controls much of the body’s form and function. DNA
controls everything from hair color and height to breathing, walking and digesting food. Genes that don’t work properly can cause disease. Sometimes these genes are called mutations.

Gene therapy aims to fix a faulty gene or replace it with a healthy gene to try to cure disease or make the body better able to fight disease. It holds promise as a treatment for a wide range of diseases, such as cancer, cystic fibrosis, heart disease, diabetes, hemophilia and AIDS.

The U.S. Food and Drug Administration (FDA) has approved gene therapy products for several conditions, including cancer, spinal muscular atrophy, hemophilia and sickle cell disease. But for most people, gene therapy is available only as part of a clinical trial.

Clinical trials are research studies that help healthcare professionals find out whether a gene therapy approach is safe for people. Clinical trials also help healthcare professionals learn how gene therapy affects the body. (Source: Mayo Clinic, 2024)

What is gene therapy?

Gene therapy is a treatment where new working genes are introduced into a person’s cells to fight disease. In the case of hemophilia, the new genes give the body instructions on how to make factor. There are different kinds of gene therapy, including gene transfer, gene editing, and cell therapy.

How does gene therapy work in hemophilia?

A working gene has clear instructions that tell the cell how to make factor. In gene therapy, a working gene is carried into the liver cells of a person with hemophilia. Once the working gene reaches the cells, they should begin producing factor.

What is a Vector?

At this time, gene therapy focused on treating hemophilia uses viral vectors. A vector is a virus that has been changed to remove the illness-causing (viral) material. It is used as a carrier to bring the new, working genes into a person’s cells. Viral vectors are used in gene therapy because they are very effective at getting into cells.

What vectors are being used in gene therapy for hemophilia?

The most commonly used vectors in hemophilia are called adeno-associated viruses, or AAV. These vectors do not carry any infectious material, meaning they do not cause viral infections. They are used to deliver working genes into liver cells in the body so that they can start producing clotting factor.

What are the differences between gene editing, gene transfer and cell therapy?

Gene transfer puts genetic information into a vector, which then carries the working copy of a gene to a person’s cells. Once inside the cell, the new, working gene allows the cell to start making factor.

Gene editing tries to “fix” the part of a gene that isn’t working. By editing the genetic directions, the cell can then start to make factor.

Cell therapy transfers cells that work well into a person to treat disease. These cells are
created to produce clotting factors. They are contained in specific materials that prevent them from attack by the patient’s immune system. These cells are implanted inside the body and will help the individual make their own factor.

What is CRISPR?

CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats. CRISPR is a way to edit a non-working gene. Instead of bringing new copies of the working gene using a vector, as in gene transfer, CRISPR actually tries to fix the patient’s non-working gene within the cell.

One way to think about the difference between gene transfer and CRISPR is to pretend you have a table with two broken legs. With gene transfer, someone would bring you a new, unbroken table. The old table would remain without being of any use. With CRISPR, someone would fix the two broken legs still attached to your table. The table would still be the original table but now improved and working. While CRISPR is exciting science, federal laws currently prevent the use of CRISPR in humans.

Visit the National Bleeding Disorders Foundation website for answers to the most common questions asked about gene therapy for hemophilia including:

Source: National Bleeding Disorders Foundation, 2024