Sickle cell disease is a group of inherited blood disorders that impact the hemoglobin and cause red blood cells to form a sickle shape. This shape makes it difficult for cells to carry oxygen properly. The “sickling” prevents oxygen from reaching different parts of the body, which often causes chronic pain and sometimes comorbid conditions and strokes. It is predominantly carried in Black people, with one in 13 Black babies born with the trait. One in 365 Black babies is born with sickle cell disease.
According to infectious diseases physician Sabrina Assoumou, MD, MPH, we’re only beginning to dig into the causes and treatments of sickle cell disease. She says, “The condition has unfortunately not received the same attention and research funding compared to other genetic conditions. It is only recently that significant breakthroughs in therapy have been discovered and are being implemented.”
Now that breakthroughs are emerging, Dr. Assoumou says that patients must seek out clinical trials. She practices at Boston Medical Center, and she often works with patients battling sickle cell disease.
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How Do Clinical Trials Work?
Clinical trials occur in four phases.
- Phase 1 tests safety and dosage with smaller groups, and it typically explores how to administer the treatment.
- Phase 2 is randomized and includes a larger group of participants. This phase can take months to a couple of years.
- Phase 3 is larger (in the thousands), and it tweaks the treatment and notes side effects and outcomes. Some participants will get the treatment, while others get a placebo. This stage confirms the efficacy of the treatment.
- Phase 4 is when the treatment is studied and approved for mass use. Side effects are confirmed as well as long-term risks and benefits. The drug is also given a price.
What is Gene Therapy?
Gene therapy involves wiping out the sickle cells and getting your own immune system to produce healthy, robust red blood cells. The process works like a stem cell transplant, except it uses the patient’s cells. The cells are extracted and harvested, then the patient undergoes a strong dose of chemotherapy. After the cells are modified, they’re infused back into the patient.
The treatment has been used to treat various conditions, and it has shown some success in improving vision loss and fighting cancer and muscular atrophy. Sickle cell gene therapy was first approved in December of 2023 and is being rolled out with dozens of patients around the US.
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Benefits of Participating in a Sickle Cell Gene Therapy Clinical Trial
According to Assoumou, “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.” With a disease that could shorten life expectancy, it is crucial to explore avenues. Black people participate in 15-19% of clinical trials, and with a disease that overwhelmingly impacts Black folks, low participation can be detrimental to finding cures and treatments.
Clinical trials are also a great way for patients to receive extra monitoring and get top-notch treatment, regardless of costs or their insurance. Assoumou explains that many clinical trials are carried out within large medical centers. “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.”
Finding a Clinical Trial
Assoumou endorses the trials being held at her hospital, Boston Medical Center, saying “They are definitely leading the way in providing access to treatment.”
She also recommends using resources available through local medical centers, which can be discussed with your treatment team. Patients can also seek out national databases. Centralized sources such as the National Institutes of Health (NIH) also collect information about clinical trials, and Assoumou explains that they are the main government agency that oversees them, and they are trustworthy.
BlackDoctor.org also maintains a database.
Considerations for Participation
The NIH explains that different trials have their criteria. For instance, there may be age cut-offs, or they may not accept patients with comorbidities. Meeting criteria may be a safeguard against poor outcomes. Before signing up for trials, patients and their doctors should have a clear idea of any risks.
Final Thoughts
Innovations in sickle cell treatment are on the horizon, but without trial participants, the path forward may take longer. By exploring options for care, such as gene therapy, patients can feel empowered and hopeful about their future living with sickle cell disease.
