How St. Jude research is transforming lives for patients with sickle cell disease

Courtney is an Ivy League–educated investment banker on Wall Street. She loves to travel, enjoys Broadway musicals and lives in New York City with her two best friends from college.

At 25, she is living her best life — all while managing sickle cell disease, a genetic blood disorder she was diagnosed with before she was born. 

Sickle cell disease affects hemoglobin, the protein in red blood cells that carries oxygen throughout the body. In people with the disease, red blood cells become stiff and crescent-shaped instead of flexible and round. Those misshapen cells can block blood flow, leading to severe pain, infections, organ damage and other life-threatening complications.

As a toddler, Courtney became part of a groundbreaking St. Jude research study that shaped how sickle cell disease is treated in young children. At age 3, she enrolled in the BABY HUG study, which tested whether a medication called hydroxyurea — previously used mainly in adults — could safely help infants and young children with sickle cell disease. 

The study showed that hydroxyurea reduced hospitalizations, pain crises and organ damage. The medication works by increasing production of fetal hemoglobin, a form of hemoglobin babies naturally make before birth that helps prevent red blood cells from “sickling” of red blood cells in individuals with sickle cell disease. Courtney took the medicine daily, helping her manage symptoms during early childhood.

Today, more than two decades later, Courtney has transitioned to adult care outside of St. Jude, but she is now a participant in another St. Jude study — one designed to answer a different set of questions. 

Following patients over time 

 Sickle Cell Clinical Research and Intervention Program, or SCCRIP, is a long-term study that follows people with sickle cell disease over many years to better understand how the condition affects patients throughout their lives. 

Although sickle cell disease is caused by a single genetic mutation, its effects can vary widely from person to person. Some patients experience frequent, severe complications, while others face milder symptoms. SCCRIP was created to help researchers understand why.

Launched in 2014, SCCRIP collects clinical information, lab data and biological samples from patients ranging in age from infancy through adulthood. To date, the study includes more than 1,800 participants from St. Jude and select affiliate locations, generating data that has supported dozens of research papers and is expanding what clinicians know about the disease. 

“When you follow patients over time, you begin to see patterns that simply aren’t visible in shorter studies,” said Deepa Manwani, MD, medical director of the St. Jude Comprehensive Sickle Cell Disease Program and principal investigator of SCCRIP. “That kind of longitudinal data helps us understand not only how the disease progresses, but how different treatments affect patients over the long term and if there are clues early in life that might predict worse outcomes.”

The study captures far more than traditional clinical information. Researchers analyze genetic data, gene activity, proteins and other biological signals to build a more complete picture of how sickle cell disease affects each individual patient. 

Making sense of those massive data sets requires powerful tools. Manwani and her colleagues are working to use advanced computational approaches, including artificial intelligence, to identify patterns that may help predict who is at higher risk for severe disease and which treatments are most likely to benefit specific patients.

St. Jude has seen the value of this tailored-treatment approach in other areas, including pediatric brain cancers such as medulloblastoma. Once treated as a single disease, medulloblastoma is now understood to include multiple subtypes that respond differently to therapy — an insight that has led to more precise treatments and better outcomes. Researchers hope a similar strategy can help transform sickle cell care. 

Data To Guide Decisions 

Knowledge about how sickle cell disease impacts patients differently is particularly important as new treatments, including gene-based therapies, emerge and become available to patients. Gene therapies aim to correct or counteract the faulty gene responsible for sickle cell disease, potentially offering long-term relief or even a cure. However, current gene therapy approaches are not without risks. 

Before treatment, patients often must undergo “conditioning,” a process that uses chemotherapy or radiotherapy to clear out their existing blood-forming cells. Conditioning can carry serious side effects, including risks of infection, organ damage and infertility.  This means that gene therapy may be a poor fit for some patients, but data is lacking to show which patients would experience the most benefit from the gene therapy options currently available and when. 

It is in this uncertainty where insights from SCCRIP could change the game, with data to guide families and their medical care teams early to the right decision for each patient.  

“Predicting disease severity in childhood will allow for transformative therapies to be administered before the cumulative organ damage from the disease adds to the risk of intensive treatments,” said Manwani.

There is also hope that SCCRIP data will uncover new strategies for treating or curing SCD that carry less side effects.  Researchers at St. Jude are already studying alternative gene-based approaches that could make treatment safer and more accessible. One promising strategy, known as in-vivo gene therapy, would deliver treatment through an intravenous medication that alters blood-forming cells inside the body — potentially eliminating the need for conditioning altogether. 

For patients like Courtney, progress in research brings hope — not just for better treatments, but for a different future.

She dreams of traveling to Greece, South Africa and Southeast Asia. She wants to be a wife and a mother. 

“I really want to have a family,” Courtney said. “I want to talk to my kids about sickle cell—about the fact that it’s hereditary. And I hope that by then, I won’t know just one person who’s been cured. I hope I’ll know many.”