Related Experiment Video
Updated: Nov 6, 2025
CRISPR/Cas9 Gene Editing of Hematopoietic Stem and Progenitor Cells for Gene Therapy Applications
Published on: August 9, 2022
Stable to improved cardiac and pulmonary function in children with high-risk sickle cell disease following
Deborah Friedman1, Allen J Dozor1, Jordan Milner1
1Department of Pediatrics, New York Medical College, Valhalla, NY, USA.
Insights
Haploidentical stem cell transplants stabilized or improved heart and lung function in children with sickle cell disease (SCD). This treatment offers a promising option for managing SCD complications.
Area of Science:
- Pediatrics
- Hematology
- Pulmonology
- Cardiology
Background:
- Children with sickle cell disease (SCD) face significant risks of progressive pulmonary and cardiac dysfunction.
- High-risk SCD patients often experience severe complications including stroke, vaso-occlusive crises, and acute chest syndromes.
Purpose of the Study:
- To evaluate the efficacy of myeloimmunoablative conditioning followed by haploidentical stem cell transplantation in children with high-risk SCD.
- To assess the impact of this transplant on cardiopulmonary function in pediatric SCD patients.
Main Methods:
- A prospective, multicenter Phase II trial involving 19 children (2.0-21.0 years) with high-risk SCD.
- Patients received haploidentical stem cell transplants from parental donors.
- Centralized cardiac and pulmonary cores were established to analyze function at 2 years post-transplant.
Main Results:
- Pulmonary functions, including FEV, FEV1/FVC, TLC, and DLCO, remained stable or improved compared to baseline at 2 years.
- Specific airway conductance showed significant improvement (p < 0.004) at 2 years.
- Left ventricular systolic function and tricuspid regurgitant velocity remained stable at 2 years.
Conclusions:
- Haploidentical stem cell transplantation is effective in stabilizing or improving cardiopulmonary function in children with high-risk SCD.
- This therapeutic approach shows promise for mitigating chronic pulmonary and cardiac complications associated with SCD.
Abstract:
Children with sickle cell disease (SCD) are at high-risk of progressive, chronic pulmonary and cardiac dysfunction. In this prospective multicenter Phase II trial of myeloimmunoablative conditioning followed by haploidentical stem cell transplantation in children with high-risk SCD, 19 patients, 2.0-21.0 years of age, were enrolled with one or more of the following: history of (1) overt stroke; (2) silent stroke; (3) elevated transcranial Doppler velocity; (4) multiple vaso-occlusive crises; and/or (5) two or more acute chest syndromes and received haploidentical transplants from 18 parental donors. Cardiac and pulmonary centralized cores were established. Pulmonary function results were expressed as percent of the median of healthy reference cohorts, matched for age, sex, height and race. At 2 years, pulmonary functions including forced expiratory volume (FEV), FEV1/ forced vital capacity (FVC), total lung capacity (TLC), diffusing capacity of lung for carbon monoxide (DLCO) were stable to improved compared to baseline values. Importantly, specific airway conductance was significantly improved at 2 years (p < 0.004). Left ventricular systolic function (fractional shortening) and tricuspid regurgitant velocity were stable at 2 years. These results demonstrate that haploidentical stem cell transplantation can stabilize or improve cardiopulmonary function in patients with SCD.
Related Concept Videos
01:22Bone Marrow Sampling and Transplants
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
01:22iPS Cell Differentiation
01:21Stem Cell Therapy for Tissue Regeneration
Types of Stem Cells used in Stem Cell Therapy
The two main cell...
01:19Multipotency of Hematopoietic Stem Cells