Published
February 23, 2024
Case Study: UPMC Children’s Hospital Researchers Successfully Use Umbilical Cord Blood to Treat Rare Genetic Disorders
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A new study led by UPMC Children’s Hospital of Pittsburgh has successfully treated 44 children born with rare genetic disorders using umbilical cord blood (UCB), a readily available source of stem cells.
Led by senior author Paul Szabolcs, the division director of bone marrow transplantation and cellular therapies at UPMC Children’s Hospital, the study included children from 20 states with a variety of diseases, such as sickle cell, thalassemia, Hunter syndrome, Krabbe disease, and metachromatic leukodystrophy (MLD). Published in the journal Blood Advances, this study marks the largest trial of its kind to date.
The treatment, which involves intravenous cord blood donated from healthy babies' umbilical cords and placentas, was designed to create a universal therapy for multiple diseases rather than individualized treatments. This approach offers potential cost savings and broader accessibility.
Szabolcs emphasizes the importance of minimizing procedure-related mortality and achieving near-zero percent mortality due to complications. The regimen developed by the team balances low-intensity chemotherapy with effective immunotherapy to prevent rejection of the transplanted cells.
Notably, the regimen is designed to be non-toxic to vital organs and has resulted in mild post-infusion complications. Importantly, none of the children experienced chronic graft-versus-host disease.
A unique aspect of the treatment is the use of a "plug-in" immune boost with a fraction of the cord blood, administered one to two months after transplantation to jumpstart immune recovery. This approach allows for mismatches between donor and recipient immune profiles, making it particularly beneficial for ethnic minorities.
The trial included 30 children with metabolic disorders, all of whom experienced neurological improvements within a year of receiving cord blood. This represents a significant advancement in a field that has seen stagnation in outcomes.
Since the study's submission, the researchers have expanded the use of this approach to treat other diseases, including those in adults. There is growing interest in adopting this regimen worldwide, with centers in Europe already showing interest, and potential adoption in the Americas and Asia on the horizon.
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