Safety and Efficacy Evaluation of β-globin Restored Autologous Hematopoietic Stem Cells in β-thalassemia Major Patients
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ClinicalTrials.gov Identifier: NCT04592458 |
Recruitment Status :
Not yet recruiting
First Posted : October 19, 2020
Last Update Posted : October 19, 2020
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Condition or disease | Intervention/treatment | Phase |
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β-Thalassemia Major | Biological: β-globin restored autologous HSC | Phase 1 |
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 10 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | A Single Center, Open Label Study to Evaluate the Safety and Efficacy of β-globin Restored Autologous Hematopoietic Stem Cells in ß-Thalassemia Major Patients |
Estimated Study Start Date : | November 1, 2020 |
Estimated Primary Completion Date : | November 30, 2022 |
Estimated Study Completion Date : | November 30, 2024 |

Arm | Intervention/treatment |
---|---|
Experimental: Experimental
10 transfusion dependent β-thalassemia major subjects who are 8-16 years older will be transplanted with β-globin restored autologous hematopoietic stem cells that are modified with lentiviral vector LentiHBBT87Q encoding the human β-globin gene.
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Biological: β-globin restored autologous HSC
β-globin restored autologous HSC modified with lentiviral vector LentiHBBT87Q |
- Frequency and severity of adverse events (AEs) and serious adverse events (SAEs) [ Time Frame: 0-100 days ]The number and the percentage of adverse events related to transplantation in 100 days will be summarized according to NCI CTCAE 5.0.
- Overall survival [ Time Frame: 0-24 months ]Number of patients alive through the whole trial will be record.
- Proportion of engraftments [ Time Frame: 0-24 months ]Neutrophil count [ANC] >=500 /mm3 for 3 consecutive days and platelet count [PLT] >20,000/mm3 for7 consecutive days.
- Replication competent lentivirus (RCL) [ Time Frame: 0-24 months ]The percentage of RCL should be negative in the 24 months after transplant.
- Dynamics of viral integration sites (VIS) [ Time Frame: 0-24 months ]Evaluation of the percentage of participants without abnormal clonal proliferation and polyclonal engraftment at 6, 12, 18 and 24 months after transplant. More than 1000 VIS retrieved from peripheral blood should be checked.
- The average Insertion copy number (VCN) in peripheral blood mononuclear cells [ Time Frame: 18-24 Months ]The average insertion copy number (VCN) should be ≥0.1 in peripheral blood mononuclear cells.
- The expression level of exogenous adult hemoglobin [ Time Frame: 18-24 Months ]Exogenous adult hemoglobin will be evaluated by globin chains and hemoglobin synthesis on peripheral blood by HPLC and the exogenous adult hemoglobin level is ≥2.0g/dL.
- Change from baseline in annualized frequency and volume of packed RBC transfusions [ Time Frame: 18-24 Months ]Compare the annualized number of pRBC transfusions before gene therapy with the Month 6 and Month 24 period after transplant, the percentage change will be recorded.

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Ages Eligible for Study: | 8 Years to 16 Years (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- 8-16 years old. Subject and/or subject's legal guardian fully understand and voluntarily sign informed consent;
- Clinically diagnosed as transfusion-dependent β-thalassemia major;
- With sufficient RBC infusion, subjects must maintain hemoglobin ≥9g/dL, serum ferritin threshold ≤ 3000 ng/mL and the liver iron overload mild or absent for at least 3 months before mobilization of hematopoietic stem cell;
- Follow the arrangements for treatment and regular medical checks within two years post-transplantation.
Exclusion Criteria:
- The physical condition does not meet the requirements for hematopoietic stem cell mobilization and transplantation myeloablation;
- Received gene therapy and allogeneic HSCT in the past.
- Have an available HLA matched donor.
- Enrolling in another clinical trial.
- Other unsuitable conditions identified by doctors.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04592458
Contact: Jing Li, PhD | 13510560664 | lijing4@genomics.cn |
China, Guangdong | |
Beijing Genomics Institute At Shenzhen | |
Shenzhen, Guangdong, China, 518083 | |
Contact: Jing Li, PhD +8613510560664 lijing4@genomics.cn | |
Principal Investigator: Chao Liu, PhD | |
Principal Investigator: Sixi Liu, Professor |
Principal Investigator: | Chao Liu, PhD | BGI-research | |
Principal Investigator: | Sixi Liu, Professor | Shenzhen Children's Hospital |
Responsible Party: | BGI-research |
ClinicalTrials.gov Identifier: | NCT04592458 |
Other Study ID Numbers: |
A-SOP-CT-001 |
First Posted: | October 19, 2020 Key Record Dates |
Last Update Posted: | October 19, 2020 |
Last Verified: | September 2020 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
β-thalassemia major β-globin restoration autologous HSCT |
Thalassemia beta-Thalassemia Anemia, Hemolytic, Congenital Anemia, Hemolytic |
Anemia Hematologic Diseases Hemoglobinopathies Genetic Diseases, Inborn |