At Ultragenyx, we’re developing gene therapies for rare and ultrarare diseases because we want to make a real difference for individuals and their families. We focus on the root causes of diseases while also considering both the experiences of those living with rare conditions and experiences of their caregivers. This approach helps us develop new treatments that can really make a difference. We’re here to provide you with information about gene therapy, helping you and your family make informed choices about your health because your journey matters to us.
What Is Gene Therapy?
Our bodies are made up of cells that contain genes (DNA), which define who we are, including traits like our eye and hair color. Genes are like instruction manuals for making proteins that help our bodies function properly.
In some people with rare diseases, a gene may be missing or not working correctly, known as a gene variant or mutation. This can lead to cells making proteins incorrectly or not at all, affecting how the body works and causing symptoms related to the disease.
While traditional treatments often focus on managing symptoms, gene therapy offers an approach that targets the underlying gene variant to address the root cause of the disease. This innovative method has the potential to slow down or even stop disease progression, making a real difference in people’s lives.
Talk to your doctor to learn more about gene therapy treatments and clinical trials.
How is gene therapy given to patients?
Patients can get gene therapies in two ways — in vivo and ex vivo treatments.
| In-vivo treatment | Ex-vivo treatment |
|---|---|
| In-vivo treatment delivers new genetic material, such as a working copy of a missing or faulty gene, directly into the body through an injection or intravenous (IV) infusion. | Ex-vivo treatment takes a sample of a person’s own cells and modifies them with new genetic material outside the body in a lab. These modified cells are then returned to the person through a dedicated procedure. |
Most gene therapies use specially made carriers called viral vectors that efficiently deliver genetic material into the body’s cells, like cars transporting passengers. These vectors are based on viruses, modified and built without the parts that can cause infection. There are different viral vectors designed to target cells in specific parts of the body, like the brain and spine, eyes, heart, lungs, liver, muscle, etc.
Ultragenyx focuses on in-vivo treatment, using adeno-associated viral (AAV) vectors.
What are Ultragenyx’s gene therapies in development?
Our mission is to address the root cause of these genetic diseases, not just the symptoms, helping to slow down or stop disease progression.
We focus on gene replacement therapy, which involves targeting the missing or faulty gene responsible for the disease and delivering a fully functional copy to restore normal function. Our gene therapies are administered as in-vivo treatments — meaning they’re delivered directly into the body through an injection or IV infusion.
To ensure the gene therapy reaches the right cells, we use specially designed carriers called adeno-associated viral (AAV) vectors. These carriers are based on viruses that have been modified to stop them from replicating. They can’t duplicate or be passed from parent to child. Think of AAV vectors as vehicles transporting the new modified genes directly into specific cells, such as those in the nervous system, eyes, and skeletal muscles. These genes provide instructions for making the proteins the body needs to function properly.
We have several AAV gene therapy programs in various stages of development. While there’s more work ahead, we’ve gathered nearly a decade of evidence to support our commitment to bringing new gene therapy treatments to those who need them most.
Why can’t Ultragenyx gene therapy be considered a cure?
Safety, effectiveness and quality are our top priorities, and we strive to ensure any gene therapy we bring to patients can meet their needs and expectations. That includes sharing information on what gene therapy is and isn’t — as we learn more about how these potential new treatment works.
- The goal of gene therapy is to go beyond traditional treatments that only address symptoms. While it’s not a cure, it’s a one-time treatment designed to target the root cause of a disease, potentially stopping or slowing its progression.
- Gene therapy has been studied for decades and shows promise as a long-term treatment option. With a growing number of therapies approved recently, we’re continuously learning more about their potential long-term effects (durability), including how long they last, their effectiveness compared to other treatments, and potential side effects. It’s crucial to discuss the benefits, risks, and treatment goals with your healthcare team.
- The way gene therapies are developed, produced, and delivered is essential for ensuring safety and quality. At Ultragenyx, we adhere to strict regulatory standards with our manufacturing partners. Our state-of-the-art facility and proprietary platform allow us to conduct end-to-end research, development, and manufacturing, all aimed at bringing safe, high-quality gene therapies to those who need them most.
What should I expect if I’m considering a gene therapy trial?
We understand that considering a gene therapy clinical trial is an important and personal decision for you and your family. Knowing what to expect — the potential benefits and risks — can help you decide if gene therapy is right for you.
Here are some important considerations you can discuss with your doctor to make an informed decision.
| Determining eligibility | Taking immunosuppressants | Response |
|---|---|---|
| Some people might have antibodies in their system from previous exposure to the viral vector used in gene therapy. If these antibodies are present, it could prevent a person from receiving the treatment because they might trigger a strong immune response that could make the therapy not work. A simple blood test can check for these antibodies. | Even if a person does not have pre-existing antibodies to the viral vector, the body’s natural defense may react to the viral vector introduced during treatment, triggering immune system reactions. To reduce potential reactions, medications like steroids may be added to suppress the immune system. Talk to your doctor if you have questions about these medications. | Everyone responds to gene therapy in their own way based on things like age, how a disease has developed, and specific symptoms. Since we can’t predict how someone will respond, patients should work with their doctors. |
| Treatment durability | Getting treatment | Joining a clinical trial |
| Gene therapy is currently a one-time treatment that shows promise for long-term benefits (durability). In our clinical trials, some programs have been collecting data for more than seven years. We have ongoing studies to better understand the long-term impact and explore the potential for safely re-dosing to enhance its effects. | Patients receive gene therapies at specially trained hospitals. The treatment is given through an injection or IV infusion, which usually takes a few hours. | Clinical trials are important for developing gene therapies. When you join a trial, you help test new treatments that could make a difference. It’s important to think about both the benefits and risks before deciding. Also, being in one trial might affect your ability to join others later on. Talk to your doctor to see if a clinical trial is right for you. |
Why is gene therapy so expensive?
Bringing safe, effective and high-quality gene therapies to patients requires specialized expertise, technologies and materials, compliance with strict regulatory standards, and the right research, development and manufacturing capabilities. This can make gene therapies for rare and ultrarare diseases cost more than conventional medications for more common conditions.
When thinking about cost, we also consider the value of gene therapy in terms of its long-term impact. Unlike traditional treatments taken over a lifetime, gene therapies are currently one-time treatments that are designed to target the root cause of a disease to slow or stop disease progression. While we’re still learning about the effects of gene therapies, this difference means that they could have a meaningful impact on long-term health care.
How does Ultragenyx work with patient communities?
Our purpose and passion are the patients, families and care partners we serve. We strive to deliver meaningful treatments, valuable information and resources to people living with rare diseases and their loved ones — and to empower them to advocate for themselves and their communities. And we don’t do it alone.
We have long-standing partnerships with patient organizations around the world. Together, we support patient communities, who are our partners on the shared mission to find safe, effective treatments that can improve the lives of everyone affected by rare diseases.
As we work toward achieving that mission, we’re committed to transparent and ongoing communication to enrich our collective understanding of gene therapy opportunities and challenges. And it starts with giving a clear view of our gene therapy programs.
Following local country rules and regulations, we share clinical trial updates, company announcements and educational resources with patient communities. Along the way, we invite community feedback through a variety of forums to ensure meaningful and understandable information, address questions and concerns, and collaborate on how best to support community members.
Then we follow through by building into our programs what science alone can’t — the personal experiences of people living with rare diseases and those who care for them. We engage the broader community of patients, caregivers, advocacy groups, healthcare providers and others to understand their experiences, perspectives, needs and priorities. And whenever possible, we embed these learnings into our decisions across the entire drug development process to create new medicines that can lead to a better future for people living with rare diseases.
Interested in joining our patient advocacy efforts? Contact us at [email protected].
Additional Resources on Gene Therapy
- MedlinePlus (online health information resource from the National Library of Medicine)
- American Society of Gene + Cell Therapy
- National Organization for Rare Disorders: Gene Therapy Fact Sheet , FAQs , Gene Therapy 101 Podcast
- Global Genes: Guide to Gene Therapies, Understanding Gene Therapy Podcast
- Institute for Gene Therapies: About Gene Therapy , Understanding Value of Gene Therapies
References
Table of contents
- What Is Gene Therapy?
- How is gene therapy given to patients?
- What are Ultragenyx’s gene therapies in development?
- Why can’t Ultragenyx gene therapy be considered a cure?
- What should I expect if I’m considering a gene therapy trial?
- Why is gene therapy so expensive?
- How does Ultragenyx work with patient communities?
- Additional resources
