Gene Therapy for Patients With Transfusion-Dependent β-Thalassemia

NCT07721480 | Not Yet Recruiting Phase 2

• 1 other identifier: CREC2025.659
• Study Type: interventional
• Target: 6
• Locations: 0 countries
• Sites: N/A

Brief Summary

Thalassemia is a group of recessively inherited hemoglobin disorders characterized by reduced or no production of hemoglobin and chronic anemia of varying severity. Severe β-thalassemia is transfusion-dependent thalassemia (TDT) and requires life-long transfusion, iron overload is a common complication of TDT. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a curative option currently available for TDT, but it carries significant acute and long-term risks. In this study, the autologous HSCT-based gene therapy (referred to as "gene therapy for thalassemia, " by using HGI-001) is based on the principle that the autologous haemopoietic stem cells (HSCs) collected from the patient him/herself are transduced outside human body, which will restore the function of RBCs, so as to achieve the effect of treating or even curing thalassemia. Currently data suggests that gene therapy for TDT patients has shown remarkable therapeutic effects, avoiding immune rejection, and is widely accepted by the medical community, positioning it as a highly promising treatment approach. To date, the efficacy and safety of HGI-001 have been evaluated through both in vitro and in vivo studies. In an early-phase clinical study of HGI-001 conducted in China, five patients achieved transfusion-independent post-treatment. Among them, four have maintained this state for over two years, with the longest duration reaching 3.5 years. The study noted no severe adverse events. The long-term safety and efficacy of HGI-001 continue to be under active surveillance.

Conditions

Beta Thalassemia Transfusion Dependent

Keywords

transfusion dependent, beta thalassemia, gene therapy

Outcome Measures

Primary Outcomes (1)

• achieve transfusion independence (TI)for at least ≥12 months after HGI-001 Injection infusion

  Subjects achieve transfusion independence (TI), which is defined as a weighted average Hb ≥9 g/dL without any pRBC transfusions at any time for a continuous period of ≥12 months during the study after HGI-001 Injection infusion

  12 month after injection of study drug

Study Arms (1)

single arm study of gene therapy

EXPERIMENTAL

gene therapy product will be used to correct the genetic defect of thalassemia major

Drug: HGI-001 Injection

Interventions

HGI-001 Injection DRUG

HGI-001 Injection is the transduction of autologous CD34+ HSPCs by the lentiviral vector, named LentiHBBT87Q

single arm study of gene therapy

Eligibility Criteria

• Age: 12 Years - 45 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Subjects between 12 and 45 years of age at the time of consent and are able to provide written informed consent.
• Diagnosis of TDT, also known as β-thalassemia major, without genotype restriction, and a valid test report can be provided.
• A history of at least 100 mL/kg/year of pRBCs transfusion or ≥ 8 transfusions of pRBCs per year for previous 2 years.
• Sufficient blood transfusion for at least 3 months before screening (transfusion records can be provided), and Hb is maintained ≥9.0 g/dL before each transfusion.
• The level of ferritin \<5000ng/mL; Cardiac magnetic resonance imaging (MRI) T2 and liver MRI T2 findings suggest iron overload at a moderate level or below.
• Clinically stable, and eligible for autologous hematopoietic stem cell transplant (auto-HSCT).
• Adequate organ function for the conditioning with busulfan.

You may not qualify if:

• Uncorrected bleeding disorder;
• Uncontrolled epilepsy or mental disorders;
• Received hydroxyurea, ruxolitinib, decitabine, or cytarabine within 3 months prior to enrollment;
• Usage of psychoactive substance, drug, or alcohol abuse within six months prior to screening.
• Pulmonary hypertension without effective intervention.
• Persistent toxicity (≥ CTCAE grade 2) induced by previous treatment.
• Positive for anti-RBC antibodies.
• Positive for hepatitis B surface antigen (HBsAg) and HBV DNA copy number \> upper limit of normal (ULN) (HBV DNA test not required for patients negative for HBsAg), positive for hepatitis C virus (HCV) antibody, unless HCV RNA is negative (HCV RNA-negative subjects are not excluded), positive human immunodeficiency virus (HIV), or positive for Treponema pallidum antibody (TP-Ab) (subjects who are positive for the antibody due to vaccination can be enrolled).
• Has or has had malignant tumors or myeloproliferative disease or immunodeficiency disease;
• Clinically significant and active bacterial, viral, fungal, or parasitic infection.

Sponsors & Collaborators

• Prince of Wales Hospital, Shatin, Hong Kong: lead

MeSH Terms

Conditions

beta-Thalassemia

Condition Hierarchy (Ancestors)

Thalassemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Chi Kong Li, MBBS MD

CONTACT

+85235051019; ckli@cuhk.edu.hk

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: July 17, 2026
• First Posted: July 23, 2026
• Study Start (Estimated): September 1, 2026
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2030
• Last Updated: July 23, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: ICF
• Time Frame: five years
• Access Criteria: researchers in the field