Like time travelers Doc Brown and Marty McFly in Back to the Future, Jane Hankins, MD, has her focus firmly set on a day that is yet to come. But instead of relying on a supercharged DeLorean time machine, Hankins depends on research to propel her toward her lofty goal: a cure for sickle cell disease. The hematologist from St. Jude Children’s Research Hospital and her team are heading up a project that will extend decades into the future. And more than 450 children have already signed on for the ride.
It’s a high-tech study with a lengthy name: Sickle Cell Clinical Research and Intervention Program, or SCCRIP for short. Children in this study agree to return to St. Jude for periodic checkups throughout their lives.
Not only will participants learn more about their own health, but they will help scientists gain long-term insights into a cruel disease. In addition, scientists will sequence the patients’ genes to figure out how genetic changes affect disease severity.
“SCCRIP will help us understand how sickle cell disease progresses—what happens over time,” Hankins explains.
Chris and Nichole Bridges have two daughters with the disease. The couple enrolled both 11-year-old Khirsten and 7-year-old Kaitlyn in SCCRIP.
“This study may help not only our girls, but other kids in the future,” Chris says. “It could be next year, it could be 10 years, it could be 15 years down the line. But by following their growth, looking at their DNA, scientists can improve their quality of life and may actually find a cure.”
When Lightning Strikes
Individuals with sickle cell disease have a lifelong illness that can affect their blood, organs and bones, causing severe pain crises and increasing their risk of infections, anemia and stroke. Health problems for these patients generally escalate during young adulthood. Scientists do not know how to predict which children are destined for specific complications or who will be affected most severely.
The average life expectancy for a person with sickle cell disease remains in the mid-40s. For Hankins, that’s simply unacceptable.
“They shouldn’t be dying at that age,” she says. “We need to understand why one person dies at 25 of kidney disease, and another at 40 of heart disease. If we follow a large number of patients long enough, we can start to understand that. Then we’ll be able to pick out the kids who are at risk for certain complications 10 years down the line, 20 years down the line. We’ll be able to find the early signs of trouble and take preventive action.”
Helping Tomorrow's Kids
St. Jude has created a comprehensive plan to help patients manage their disease. Until age 18, children and teens receive treatment—as well as education and counseling for their families—at St. Jude. At age 18, care transfers to one of the adult hospitals in Memphis, such as the Methodist Adult Comprehensive Sickle Cell Disease Center or the Regional One Health Diggs Kraus Sickle Cell Center. Clinicians in the adult program work with St. Jude staff to ensure that patients continue to receive the same level of care and those who enroll in SCCRIP will return to the hospital for medical follow-up every six years.
Data from this study will be used to help improve the health of future generations of children as well as provide information about the best way to make the transition from pediatric to adult care.
The Sky's the Limit
Underlying the clinical program is a basic research question: How do genes affect the progression of disease or a patient’s response to treatment?
That’s what scientists aim to discover. By sequencing the genes of children with sickle cell disease, scientists expect to identify pivotal genetic changes and find out how they influence patient outcomes and complications.
“Not every patient with sickle cell disease gets every problem,” says Mitch Weiss, MD, PhD, Hematology chair. “Some patients are sicker than others, and there’s a strong genetic component to that.”
Hankins says those findings could be the culmination of her life’s work.
“Can I find one little marker, one gene, that tells me which child is going to die of heart disease at age 20?” Hankins says. “If we find those genetic markers, then we can work on fixing it.”
Hankins is encouraged by the number of patients who have agreed to participate in SCCRIP. Her goal is to enroll every St. Jude sickle cell patient in the study. She is also extending the study to other Memphis hospitals and St. Jude affiliate programs.
“The sky’s the limit, because the power is in the numbers, especially if you’re doing genetic studies,” she says. “If you’re looking at DNA and trying to understand mutations, you really need a lot of patients to understand those changes.”
It's the Power of Hope
Hankins says the SCCRIP study is different from sickle cell studies done elsewhere. Other programs generally follow children only until age 18 or 21, in spite of the fact that health complications skyrocket after that age. The genetic elements add depth to the study.
“I’m not sure you could pull this off anywhere else,” Hankins says. “Now that we’re following patients through adulthood, our numbers are growing very large. We have the infrastructure here at St. Jude to do the genome studies; we have a fantastic clinic infrastructure to collect all the clinical data. We have it all.”
Chris and Nichole Bridges rely on St. Jude for their daughters’ medical care, but they respect the value of long-term research and they keep their eyes on the future.
“My wife and I are always looking and waiting for the day that they call us and say, ‘We’ve found the way to turn that sickle cell gene off,’” Chris says.
“Of course, as a dad, I want my children to outlive me, to live normal lives. With this study, we can be hopeful that this disease can someday have a safe and accessible cure for all.”
From Promise, Winter 2016