Caring for a child with sickle cell disease (SCD) can mean managing severe pain episodes, ER visits, school absences, and long-term health concerns. As you hear about breakthrough treatments in the news, you may be curious as to whether your child can participate. Gene therapy, in particular, is a potential one-time treatment for patients 12 and older with SCD experiencing severe complications.
Infectious diseases physician Sabrina Assoumou, MD, MPH, says we’re only beginning to dig into the causes and treatments of sickle cell disease in children. “The condition has unfortunately not received the same attention and research funding compared to other genetic conditions,” she explains. “It is only recently that significant breakthroughs in therapy have been discovered and are being implemented.”
Now that breakthroughs like gene therapy are emerging, Dr. Assoumou says that parents should discuss clinical trial opportunities with their child’s care team.
Sickle cell disease is a group of inherited blood disorders that affect hemoglobin and cause red blood cells to form a sickle shape, making it difficult for cells to carry oxygen properly. When oxygen cannot reach different parts of the body, it can cause chronic pain, anemia, jaundice, swelling in the hands and feet, and frequent infections.
Gene therapy involves modifying sickle cells and getting the immune system to produce healthier red blood cells. The process works like a stem cell transplant, except it uses the child’s cells. The cells are extracted and harvested, and then the child undergoes a high-dose chemotherapy regimen. After the cells are modified, they’re infused back into the child.
The treatment has been used to treat various conditions and has shown some success in improving vision loss, fighting cancer, and treating muscular atrophy. Sickle cell gene therapy was first approved in December of 2023 and is being rolled out with dozens of patients around the United States.
Even while exploring cutting-edge treatments like gene therapy, everyday preventive care is still critical for children with sickle cell disease. They are at a higher risk for serious infections, including pneumococcal disease, which can lead to pneumonia, meningitis, and bloodstream infections. Because SCD can damage the spleen, which helps fight bacteria, staying up to date on recommended childhood vaccines is especially important.
Pneumococcal vaccination is a key part of the routine sickle cell care and can help protect your child from potentially life-changing complications. Parents should consult their child’s pediatrician or hematologist to ensure that all recommended immunizations are up to date before participating in advanced treatments such as gene therapy.
Gene therapy for sickle cell disease may be especially beneficial for children and their families.
If effective, it may lead to:
Studies have shown that some patients can experience extended periods without severe pain episodes after undergoing gene therapy. While we’re seeing some success in the treatment, researchers are still studying the long-term outcomes.
RELATED: Sickle Cell Trait vs. Sickle Cell Disease: Why Black Parents Need to Know the Difference
Yes. The U.S. Food and Drug Administration (FDA) has approved two gene therapies for patients 12 and older with severe SCD. It’s important to note that eligibility will vary by study, as researchers may not only seek patients within a certain age range, but also those with recurring pain crises, specific treatment history, and current health status.
Here’s what you and your child can typically expect during a gene therapy clinical trial:
Like any treatment, participating in a gene therapy clinical trial may come with some risks.
These include:
Fortunately, clinical trials have safety oversight to ensure your child is well cared for if they experience any side effects. Plus, you can ask as many questions as you need before enrolling, and you can withdraw your child from the process at any time.
There’s been long-standing distrust of the healthcare system among many Black Americans since historical incidents like the Tuskegee Syphilis Study. Some parents may feel that researchers and providers do not have their child’s best interests in mind when treating them. In addition, Black people can face significant disparities when accessing specialty care, including transportation challenges, financial strain, and implicit bias from providers.
If you’re on the fence about having your child participate in a gene therapy clinical trial, it’s important to understand that many protections for patients have been put in place. Informed consent is an ethical and legal process that ensures patients are informed of all aspects of the study, thereby giving them peace of mind.
Black people are heavily underrepresented in what could be potentially life-saving treatment. While hesitancy about including your child is understandable, know that participating in clinical trials could give them access to treatments that can reduce symptoms and improve their overall quality of life.
RELATED: Faith Over Fear: How an Infant’s Family Treated Her Sickle Cell Disease
Clinical trials may give your child access to specialized care, extra monitoring, and advanced treatments that are not yet widely available. Many studies are conducted at large medical centers with teams experienced in treating SCD.
Dr. Assoumou explains that clinical trials must undergo extensive safety reviews before patients can participate. “Before being rolled out, clinical trials have to undergo rigorous evaluation by regulatory boards to ensure that the approach being proposed follows appropriate measures that will protect the safety of all participants.”
Research studies also play a significant role in helping providers better understand which treatments work best for children living with sickle cell disease. “Clinical trials are key to understanding which treatments or interventions work and should be pursued, and for Black patients, that can mean new discoveries that could benefit all patients with this condition,” Dr. Assoumou says.
Because sickle cell disease disproportionately affects Black Americans, representation in clinical trials matters. Increasing participation can help researchers develop safer, more effective treatments tailored to the communities most impacted by the disease.
Here’s what you can ask the clinical trial team about your child’s care:
If you’re considering a gene therapy trial for your child, start by speaking with their hematologist. They can help direct you to information about open trials your child may be eligible for.
You can also use the following resources:
Please note that not every family will qualify for gene therapy clinical trials, and the treatment itself may not be the right choice for everyone.
Gene therapy creates new possibilities for some children living with sickle cell disease. Clinical trials help researchers learn more about the safety and long-term effectiveness of new drugs and treatments. Families should work closely with trusted providers when considering treatment options.
By subscribing, you consent to receive emails from BlackDoctor.com. You may unsubscribe at any time. Privacy Policy & Terms of Service.
