Cara Barnett, MS, CGC

An increasing number of gene therapies are in early development, many are currently enrolling participants in clinical trials, and several have already been approved for widespread use. Currently, the U.S. Food and Drug Administration (FDA) has approved gene therapies for conditions affecting the eyes (retinal dystrophy), muscles (spinal muscular atrophy), and blood (various hemophilias). Ongoing trials are exploring additional therapies for neuromuscular diseases, cardiovascular conditions, and more.

What is Gene Therapy?

Gene therapy is a way to treat certain diseases by correcting or replacing faulty genes. There are a few types, including gene replacement therapy and gene editing. If genes are like a blueprint for the body, gene therapy helps repair the faulty or missing parts of that plan.

Gene editing, often using a technique called CRISPR, is a newer approach that aims to repair mutations in a person’s DNA directly. Several CRISPR-based therapies are in clinical trials, and the FDA has already approved one to treat a blood disorder called beta thalassemia.

Gene replacement therapy is further along, with multiple FDA-approved treatments already available. It works by providing the body with a healthy copy of a gene that isn’t functioning properly. One example of an approved gene replacement therapy is Zolgensma for spinal muscular atrophy. To deliver the healthy gene, scientists use a vector, often a virus, that has been modified to be harmless. This vector acts like a delivery vehicle, helping the gene reach the cells that need it and giving them new instructions to function correctly.

What is a Clinical Trial?

A clinical trial is a strictly monitored, FDA-regulated research study designed to test whether a new medical treatment is safe and effective for people. Clinical trials typically happen in phases, with early phases focused on patient safety and later phases evaluating how well the treatment works for the disease or condition of interest. In gene therapy, this means determining whether the gene therapy can effectively fix or treat the genetic disease without causing too many adverse side effects. Patient participation in a clinical trial is essential to provide information to researchers and help shape future care for patients and families.

How are Participants Identified for Gene Therapy Clinical Trials?

There are many ways people can be identified for clinical trials. Your medical care team, such as genetic counselors, doctors, or other healthcare providers, might determine that you could be a good candidate and reach out to you directly. In some cases, genetic testing labs may contact you if you’ve given permission to be contacted about research opportunities. Patient advocacy groups and support organizations also share information about trials with patients. Additionally, information about ongoing clinical trials is available on clinicaltrials.gov for anyone to access. You can always ask your medical team directly if there’s a clinical trial that might be right for you.

What Questions Should I Discuss with My Medical Team?

If you have a genetic diagnosis and are eligible for a new or upcoming gene therapy clinical trial, there are many important considerations to discuss with your medical care team. Your medical team should be actively involved in the conversation, answering your questions and guiding you through the key considerations of clinical trial participation.

Here are some questions your medical team can help answer:

• What’s the science behind gene therapy? How does it work?
• What are the benefits and risks of joining this specific clinical trial?
• What do we know about the safety of this drug so far?
• What are possible side effects?
• If this clinical trial doesn’t work, will it affect my chances of getting other treatments later?

Here are some additional things you might want to think about:

• What are the inclusion criteria for the trial? Do I meet them?
• Where is the trial taking place? Will I need to travel or stay overnight?
• Will this new therapy help me? Is it better than the treatments I’m currently receiving?
• What costs will be covered? Will my insurance help with any expenses?
• How is the treatment administered during the trial? Is it a method I feel comfortable with?
• What will be expected of me throughout the trial? How many visits and medical tests will be required?
• Can I commit to long-term follow-up and monitoring after the treatment?
• What happens once the trial ends?

Learn More

Participating in a clinical trial can be meaningful and rewarding—it’s what helps move research forward. But it’s also important to know that clinical trial participation comes with potential benefits and risks. Deciding whether to join a trial is a personal choice, and what’s right for one person may not be right for another. Fortunately, there are many helpful resources available to support patients and families in making informed decisions along the way.

Speaking with a genetic counselor can help provide resources and guidance on the questions discussed above, and next steps to learning more.

Additional information on this topic is available at: The American Society of Cell and Gene Therapies https://patienteducation.asgct.org/patient-journey/considering-a-clinical-trial

Information regarding specific clinical trials is available on: https://clinicaltrials.gov/

Find a genetic counselor near you: https://findageneticcounselor.nsgc.org/

Note: This guide provides general information about clinical trials and is not medical advice. Please consult with healthcare professionals for specific advice related to your situation.

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