AUTOLOGOUS CD34+ CELLS TRANSCRIBED WITH LENTIVIRAL VECTOR ENCODING THE HUMAN BETA-GLOBIN GENE for Transfusion-dependent beta-thalassemia

Inclusion criteria

• {"criterion_text":"- Male and female adults/adolescents/children diagnosed with transfusion-dependent β-thalassemia (homozygous or compound heterozygous). At least 2 out of the 9 patients must have B0/B0 or B0/B0- like genotype. In case the genetic diagnosis available at screening wasn’t performed in a certified laboratory (check under PI’s or delegated investigator’s responsibility), the genetic diagnosis will be repeated at clinical sites during the screening phase\n- Documented history of at least 100 mL/kg/year or 10 U/year of packed red blood cell transfusions in each of the 2 years prior to signing informed consent.\n- Age ≥ 18 years and ≤ 35 years for Group 1, Age ≥ 3 years and ≤ 35 years for Group 2.\n- Karnofsky Index or Lansky ≥ 80%\n- Adequate cardiac, renal, hepatic and pulmonary functions resulting in eligibility to undergo autologous HSCT\n- Low risk thrombophilic screen and negative history of significant previous thrombotic events"}

Exclusion criteria

• {"criterion_text":"- Use of other investigational agents within 4 weeks prior to study enrolment (within 6 weeks if use of long active agents)\n- Severe, active viral, bacterial or fungal infection at eligibility evaluation\n- Current or prior malignant neoplasia (except local skin cancer or cervical intraepithelial neoplasia) or exceptional family history of familial cancer syndromes\n- Current or prior immunodeficiency disorder.\n- For patients until the age of 14 years only: availability of an HLA-matched family donor\n- Previous allogeneic hematopoietic stem cell transplantation.\n- Previous gene therapy treatment (gene addition or gene editing)."}

Primary endpoints

• {"endpoint_text":"- Proportion of Subjects achieving transfusion independence defined as a weighted average Hb ≥ 9.0 gr/dL without any red blood cell transfusion for a continuous period of ≥ 12 months (TI12) at any time during the study after the drug product administration. The assessment of TI12 starts 60 days after last RBC transfusion for post-transplant support or BTHAL standard of care.","definition_or_measurement_approach":"Transfusion independence (TI12) defined as a weighted average hemoglobin ≥ 9.0 g/dL without any red blood cell transfusion for a continuous period of ≥ 12 months. The TI12 assessment period begins 60 days after the last RBC transfusion given for post-transplant support or standard of care."}

Secondary endpoints

• {"endpoint_text":"- Overall survival at 12 and 24 months post GT.","definition_or_measurement_approach":"Overall survival measured at 12 and 24 months after gene therapy (post GT)."}
• {"endpoint_text":"- Evaluation of the safety of treatment","definition_or_measurement_approach":"Safety evaluation as per protocol-specified safety assessments (not further specified in the provided metadata)."}
• {"endpoint_text":"- Evaluation of biological correlates of safety","definition_or_measurement_approach":"Assessment of biological correlates of safety as defined in the protocol (details not provided in the metadata)."}

Italy

Earliest CTIS Part Ii Submission Date

22-07-2025

Latest Decision Or Authorization Date

18-12-2025

Processing Time Days

149

Number Of Sites

2

Number Of Participants

9

Primary sponsor

Full Name

Fondazione Telethon Ets

Organisation Type

Patient organisation/association

Country Of Registered Address

Italy

Co-sponsors

• San Raffaele Hospital