In short
Clinical trials are investigating AUTOLOGOUS HAEMATOPOIETIC STEM AND PROGENITOR CELL POPULATION CONTAINING CD34+ CELLS TRANSDUCED WITH A LENTIVIRAL VECTOR ENCODING THE TCIRG1 CDNA EX VIVO EXPANDED in children with autosomal recessive osteopetrosis caused by TCIRG1 gene mutations. These studies aim to assess safety, feasibility, and efficacy. The trial data focus on paediatric patients with this rare condition.
Key points
- Clinical trials are studying AUTOLOGOUS HAEMATOPOIETIC STEM AND PROGENITOR CELL POPULATION CONTAINING CD34+ CELLS TRANSDUCED WITH A LENTIVIRAL VECTOR ENCODING THE TCIRG1 CDNA EX VIVO EXPANDED in children with autosomal recessive osteopetrosis caused by TCIRG1 mutations. The trial is a Phase 1/2 study, so it is an early-stage trial focused on both safety and possible benefit. It is an open-label, interventional study with 8 planned participants. The main outcomes include overall survival after the first ATMP infusion and blood recovery measures such as severe neutropenia, thrombocytopenia, and red blood cell transfusion need. The study is authorised and is designed to assess safety, feasibility, and efficacy in a paediatric population.
Trial overview
This clinical trial is an open-label, interventional study of AUTOLOGOUS HAEMATOPOIETIC STEM AND PROGENITOR CELL POPULATION CONTAINING CD34+ CELLS TRANSDUCED WITH A LENTIVIRAL VECTOR ENCODING THE TCIRG1 CDNA EX VIVO EXPANDED in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
The study brief says the goal is to evaluate safety and efficacy of autologous TCIRG1 LVV-transduced, ex vivo-expanded HSPC in paediatric patients with ARO-1.
Who is being studied
The target population is paediatric patients, meaning children, who have autosomal recessive osteopetrosis caused by TCIRG1 gene mutations.
The trial data do not list broad adult participation; the study is specifically described as a children’s study.
Trial design and phase
This is a Phase 1/2 trial, which means it is an early-stage study that first looks at safety and then also begins to measure whether the treatment may help.
The study is open label, so the treatment is not hidden from the study team or the participants.
It is also an interventional trial, meaning researchers are giving a study treatment and then watching the results.
The planned enrollment is 8 patients.
What is being measured
The first primary outcome is overall survival after the first ATMP infusion.
The second primary outcome looks at whether patients have no severe neutropenia or thrombocytopenia and do not need regular red blood cell transfusions compared with baseline, in patients with long-term engraftment of TCIRG1 LVV-transduced cells.
For this outcome, long-term engraftment is defined in the trial data as vector copy number (VCN) greater than 0.2 in total blood or myeloid cells at 12 months after the first ATMP infusion, and this is measured in the absence of rescue treatments such as allogeneic transplantation with or without autologous back-up infusion.
In simple terms, the study is checking whether the treated cells stay in the body, help blood counts recover, and reduce the need for transfusions.
Trial status and size
The trial status is Authorised.
The study plans to include 8 participants.
Key patient terms
ATMP means advanced therapy medicinal product, a term used in the trial data for this type of treatment.
Neutropenia means a low number of neutrophils, which are white blood cells that help fight infection.
Thrombocytopenia means a low platelet count, which can raise the risk of bleeding.
Red blood cell transfusion means receiving donor red blood cells to treat anemia or low blood counts.
VCN, or vector copy number, is a measure used in the study to show how many copies of the vector are present in cells.
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