Caring mother embraces son who lives with a genetic disease; both smiling wide and laughing as they share a joyful, loving moment.

Additional resources
and support

Gene therapies are the result of decades of scientific, clinical, and manufacturing advances, all of which have begun to improve the lives of patients with various inherited genetic diseases. Talk with your doctor about approved gene therapies or ones currently undergoing clinical trials to see if gene therapy is an option for you and your family. Connecting with your healthcare provider will help you make the right decision.

There is a lot to consider when thinking about the potential of gene therapy. Talk with your doctor to learn more.

What is a clinical trial?

How therapies for rare diseases are approved

Clinical trials are research studies that test if a treatment is safe and effective in human patients. Through clinical trials, doctors and scientists can search for ways to potentially improve treatments and increase the quality of life for people with different diseases.

There are gene therapy clinical trials available for some individuals living with certain rare genetic conditions.

Gene therapy for rare diseases: Clinical trial timeline (3-5 years or more)

Because of the urgent need for treatment and the small number of potential patients, clinical trials for rare diseases may combine the steps of conventional clinical trials for more timely approval.

These trials may include adults and adolescents, young children, even infants, and smaller patient groups. Only patients with a confirmed diagnosis are enrolled; healthy volunteers are not eligible. Many studies include long-term follow-up to monitor patient safety.


Lab and animal studies

  • Using animal models of a particular disease, determine dose range and optimal administration factors, such as delivery (by mouth or injections) and timing
  • Establish the initial safety profile of the therapy

Phase 1&2

People with disease or condition

  • Determine safe and effective dose, plus patient benefit and safety

Phase 3

People with disease or condition

  • Establish safety and efficacy in patients with the disease or condition
  • Used by regulatory agencies to determine approval

Are clinical trials safe?

Connect with your healthcare provider to help you make the right decision. Your decision can only be made after you and your doctor discuss the goals of the trial, risks, benefits, and expectations. Before taking part in a trial, you will need to read and then sign an informed consent document, which also describes the potential risks of participating in a clinical trial.

Talking with your care team about participating in a clinical trial

If you are interested in learning more about participation in a clinical trial, reach out to your treatment team to get more information. Your healthcare provider can help find answers to questions you may have and help you decide if a trial is right for you.

Learn more about clinical trials

Find a support community

Rare does not mean alone

Some genetic diseases have severe impacts on patients and their families. Confronting a rare genetic disease can be overwhelming, stressful, and confusing for the patient and members of their family. But you are not alone.

Many people who have a rare disease in the family find that it is helpful to connect with others who are similarly affected. Patient and family support groups often provide disease-related webinars, self-advocacy pointers, and other ways to engage with the patient and caregiver community.

Consider starting a group if you cannot find a patient support or advocacy group in your area of interest.

Learn more