Early Sickle Mortality Prevention

The Laboratory of Early Sickle Mortality Prevention, led by Dr. Courtney Fitzhugh, is exploring new avenues of hematopoietic cell transplantation (HCT) for sickle cell disease.

Courtney Fitzhugh, M.D.

Senior Investigator Research Interests

Research Interests

Dr. Fitzhugh is exploring new avenues of hematopoietic cell transplantation (HCT) for sickle cell disease (SCD), while also studying the long-term health effects of curative therapies for SCD.

Currently, HCT offers the only real cure for patients with SCD, though the transplantation procedure can only be applied to select people and carries its own health risks. One risk is that traditional stem cell transplants involve high-dose chemotherapy, which many adults with SCD cannot tolerate due to pre-existing organ damage. Dr. Fitzhugh and her team have been developing an alternative approach where patients receive agents that focus on eradicating the immune system and making space in the bone marrow while avoiding high-dose chemotherapy. Dr. Fitzhugh has demonstrated the efficacy of this non-myeloablative procedure in both mice and human volunteers and is currently participating in a long-term follow-up study with patients to see if they remain free of SCD.

Dr. Fitzhugh is also conducting a half-matched protocol to increase the number of people eligible for HCT. The current procedure requires a fully HLA-matched sibling donor, and less than 15% of patients with SCD would qualify. Through a half-matched donor protocol, 90% of patients have parents, children, and siblings who could serve as stem cell donors. However, the immune system barriers and potential complications are greater. Dr. Fitzhugh is currently examining the feasibility of this approach in a clinical pilot study that includes patients with compromised organ function.

Dr. Fitzhugh is also interested in learning more about the long-term health effects of curative therapies in patients with SCD. Her team has shown in small studies that heart morphology improves, tricuspid regurgitant jet velocity decreases, and kidney function remains normal after non-myeloablative HCT with follow-up of up to 3 years. Dr. Fitzhugh is collaborating with investigators to study the impact of curative therapies on organ function and also leads an NIH study to deeply phenotype major organs in patients with SCD who undergo HCT or receive standard treatment.

Lastly, myelodysplastic syndrome and acute myeloid leukemia incidence is higher than expected after graft rejection and gene therapy for SCD. Dr. Fitzhugh and her team have shown that TP53 mutations found at the time of myeloid malignancy diagnosis were present at baseline in a few patients. Further, the incidence of myeloid malignancies is higher after graft failure and mixed donor/recipient chimerism. They are now interested in exploring genetic risk factors for myeloid malignancy development after curative therapies for SCD. The goal of the clinical HCT protocols is full donor chimerism and not mixed chimerism. Altogether, Dr. Fitzhugh’s group seeks to develop a personalized approach to curative therapies for SCD.

Clinical Trials and Studies

All Ages
All Genders
Accepting Healthy Volunteers
Do you or your child have sickle cell disease and a relative willing to donate stem cells? This study is giving a second blood stem cell transplant to people with sickle cell disease who have had their disease return after one stem cell transplant. To participate in this study, you must be 4 years old or older, have sickle cell disease, and have had your disease return after receiving a blood stem cell transplant. You must also have a relative who is older than 2 years and can donate stem cells via a blood draw. This study takes place in Bethesda, Maryland.
Adult, Older Adult
All Genders
Not Accepting Healthy Volunteers
Are you at least 18 years old and have sickle cell disease? People with sickle cell disease often have problems with their heart, brain, kidneys, liver, and lungs as they age. These problems may improve after transplant. Researchers in this study are trying to learn how and why this happens. To participate in this study, you must be at least 18 years old and have sickle cell disease. You must also have a history of problems with your heart, lungs, or other criteria that the study doctor will discuss with you. This study is taking place at the National Institutes of Health Clinical Center in Bethesda, Maryland.

Meet the Team

Courtney Fitzhugh, M.D.

Courtney Fitzhugh, M.D.

Lasker Clinical Research Scholar

Courtney Fitzhugh received her B.S. magna cum laude from the University of California, Los Angeles in 1996, and her M.D. from the University of California, San Francisco in 2001. During medical school, Dr. Fitzhugh participated in the NIH Clinical Research Training Program, where she studied with Dr. John Tisdale in NIDDK/NHLBI. After receiving her M.D., Dr. Fitzhugh completed a joint residency in internal medicine and pediatrics at Duke University Medical Center, and in 2005 she did a combined adult hematology and pediatric hematology-oncology fellowship at the NIH and Johns Hopkins Hospital. Dr. Fitzhugh returned to the NHLBI in 2007 and was appointed as Assistant Clinical Investigator in 2012 and Lasker Clinical Research Scholar as a Clinical Tenure Track Investigator in 2016. She is a member of the American Society of Hematology and the American Society of Transplantation and Cellular Therapy.