A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
This research study is looking for children with a rare bone condition called autosomal recessive osteopetrosis, specifically when it's caused by problems with the TCIRG1 gene. The study is trying out a new type of treatment where doctors take some of the child's own blood-forming cells, change them in the lab to fix the genetic problem, and then give them back to the child. The main goal is to find out if this new cell therapy is safe, if it helps to improve the child's health, and how well it works over time. This is an early-stage study, meaning it's one of the first times this specific treatment will be given to people.
At a glance
What is this study about?
This study is about a very rare condition called osteopetrosis, sometimes known as 'marble bone disease'. It’s a genetic condition where bones become unusually dense and brittle, which can cause serious health problems. In this particular study, we're focusing on children whose osteopetrosis is due to a faulty gene called TCIRG1.
The research is testing a new and experimental treatment called gene therapy. This involves taking some of the child's own special blood-forming cells, called stem cells, from their body. In a lab, scientists then carefully introduce a working version of the TCIRG1 gene into these cells. The hope is that these 'corrected' cells can then be put back into the child, where they will grow and produce healthy cells that can help improve the bone problems.
The study aims to see if this new approach is safe for children, whether it can be successfully carried out, and most importantly, if it helps to make the children healthier and improve their quality of life. This is a "Phase I/II" study, which means it's an early step in testing a new treatment in people, focusing on safety first, and then looking at how well it works.
Key takeaways
- This study is for children with a specific genetic bone disease.
- It tests a new gene therapy using a child's own stem cells.
- The goal is to improve bone health by correcting a faulty gene.
- It's an early-stage study focusing on safety and how well the treatment works.
- Participation involves cell collection, body preparation, cell infusion, and long-term follow-up.
Who may be eligible?
To be considered for this study, patients must meet certain criteria that the researchers have set. The study is specifically looking for children who have been diagnosed with autosomal recessive osteopetrosis that is known to be caused by a fault in the TCIRG1 gene.
There are no specific age limits mentioned beyond being a child, and the study is open to both boys and girls. However, there will be other medical checks to make sure that taking part in the study would be safe and appropriate for each child. This might include ensuring they are generally well enough to undergo the treatment procedures involved.
It's important to remember that not everyone with this condition will be able to join. The medical team will carefully review each child's health records and conduct further tests to decide if they are a good match for the study.
- Is my child diagnosed with autosomal recessive osteopetrosis?
- Is my child's condition known to be caused by a fault in the TCIRG1 gene?
- Is my child generally healthy enough for intensive medical procedures?
- Am I, as a parent/guardian, willing to commit to long-term follow-up appointments?
This is a guide only — the research team will confirm whether you can take part.
What does participation involve?
If a child joins this study, it would involve several steps. First, doctors will collect some of their blood-forming stem cells. This process typically involves medication to encourage the stem cells to move from the bone marrow into the bloodstream, where they can be collected, similar to donating blood. These cells are then sent to a special lab to be 'corrected' with the new gene.
Before the corrected cells are given back, the child will receive some medication (like TEPADINA and Trecondi) to prepare their body. This part is called 'conditioning' and helps to make space for the new, corrected cells. Then, the corrected cells are given back to the child through an infusion, much like a blood transfusion. Afterwards, there will be regular check-ups and tests, likely over several months and possibly years, to monitor their health, see how well the new cells are working, and check for any side effects. Mozobil is another medication used to help collect the stem cells. The total duration of participation, including follow-up, will be extensive to fully understand the long-term effects of the treatment.
Potential risks and benefits
Locations (1)
- —Italy
Common questions
What is 'autosomal recessive osteopetrosis'?
It's a rare genetic condition where bones become unusually dense and brittle, making them prone to breaks and other health issues.
What does 'gene therapy' mean in this study?
It means doctors are taking a child's own cells, adding a correct version of a faulty gene (TCIRG1) in the lab, and then giving those corrected cells back to the child.
Is this treatment a cure?
This is an early-stage study (Phase I/II) to see if the treatment is safe and effective. It's too soon to say if it's a cure, but researchers hope it will improve the condition.
Will my child have to stay in hospital?
Yes, parts of the treatment, like receiving the corrected cells and the conditioning medication, will require hospital stays and close monitoring.
Who is funding this research?
The study's details don't mention the specific funder, but clinical trials are typically sponsored by pharmaceutical companies, government agencies, or research institutions.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Discussion
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