This study is being done to test the safety of a new treatment called gene editing in Sickle Cell Disease (SCD) patients and to see if a single dose of this genetically modified cellular product will increase the amount of a certain hemoglobin called fetal hemoglobin (HbF) and help reduce the symptoms of SCD. Primary Objective * To assess the safety of autologous infusion of clustered regularly interspaced palindromic repeats (CRISPR)/ CRISPR associated protein (Cas9)-edited CD34+ hematopoietic stem and progenitor cells (HSPCs) in patients with severe SCD. Secondary Objective * To assess the efficacy autologous infusion of CRISPR/Cas9 genome-edited CD34+ HSPCs into patients with severe SCD.
Participants will receive a daily subcutaneous (under the skin) dose of motixafortide for up to 3 consecutive days to mobilize their hematopoietic stem and progenitor cells (HSPCs) into peripheral blood. Participants who cannot tolerate motixafortide may receive a daily subcutaneous dose of plerixafor as an alternative for 3-5 consecutive days. The collection of HSPCs will be done via apheresis. The collected HSPCs will be sent to a lab to genetically modify them using CRISPR/Cas9. In the lab, the researchers will take the stem cells and purify them. The stem cells will then be mixed with the CRISPR-Cas9 gRNA ribonucleoprotein (RNP) complex to change (edit) the genes in the cells and produce the new gene edited cellular product. This gene edited drug product will be frozen until ready for infusion. Once the cellular product is ready, participants will be given Busulfan (a chemotherapy medicine) intravenously (IV) for 4 days. The thawed gene product will be given IV about 48 hours after the completion of the last dose of busulfan. Participants will be followed for 3 years on this study. After the three years, participants will be followed for 12 more years on a long-term follow-up study.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
25
Given Subcutaneous (under the skin)
Given Intravenous (IV)
Given Intravenous (IV)
Given Subcutaneous (under the skin)
St. Jude Children's Research Hospital
Memphis, Tennessee, United States
RECRUITINGIncidence of neutrophil engraftment by day +42 after infusion of the CRISPR/Cas9-edited CD34+ HSPCs.
Upon completion of the trial, summary statistics will be computed for the time to neutrophil engraftment.
Time frame: Within 42 days of the cellular product infusion
Incidence of platelet engraftment by day +60 after infusion of the CRISPR/Cas9-edited CD34+ HSPCs.
Upon completion of the trial, summary statistics will be computed for the time to platelet engraftment.
Time frame: Within 60 days of the cellular product infusion
Sustenance of multi-lineage engraftment and polyclonal hematopoiesis as measured by counts of different clones of myeloid cells, T cells, B cells, and NK cells at 1 year after infusion of the CRISPR/Cas9-edited CD34+ HSPCs.
Sustenance of multi-lineage engraftment will be described using descriptive statistics.
Time frame: Within 1 year of the cellular product infusion
Frequency of off-target editing after infusion of the CRISPR/Cas9-edited CD34+ HSPCs.
Frequency of off-target editing will be described using descriptive statistics.
Time frame: Within 3 years of the cellular product infusion
Occurrence of secondary graft failure, clonal hematopoiesis, MDS, or AML
Occurrence will be described using descriptive statistics.
Time frame: Within 3 years of the cellular product infusion
Estimate the change in the annualized rate of SCD-related vaso-occlusive events (such as pain crises and acute chest syndrome events), starting at 3 months after the infusion of autologous CRISPR/Cas9-edited CD34+ HSPCs.
We will evaluate the change in the annualized rate of SCD-related vaso-occlusive events starting at 3 months after the infusion of autologous gene-edited CD34+ HSPCs relative to the annualized rate calculated during the 2-year period before study enrollment. The changes will be summarized using descriptive statistics and displayed graphically.
Time frame: From 3 months post the cellular product infusion to 3 years post infusion
Compare the change from baseline in the total blood hemoglobin concentration.
The change from baseline (at the time of screening) in the total blood hemoglobin concentration will be calculated at various timepoints as described in the protocol. The changes will be summarized using descriptive statistics and displayed graphically.
Time frame: From time of screening to 3 years post infusion
Compare the change from baseline in the fraction of red blood cells (RBCs) containing HbF.
The change from baseline (at the time of screening) in the fraction of RBCs containing HbF by immunostaining will be calculated at various timepoints as described in the protocol. The changes will be summarized using descriptive statistics and displayed graphically.
Time frame: From time of screening to 3 years post infusion
Change in incidence of packed RBC transfusions.
The change from baseline (at the time of screening) in the incidence of packed RBC transfusions will be calculated at various timepoints as described in the protocol. The changes will be summarized using descriptive statistics and displayed graphically.
Time frame: Within 1 year prior to infusion and within 3 months to 1 year post infusion
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