Australian researchers will conduct a stem cell gene therapy trial for children with severe immunodeficiency.
As part of the trial, stem cells from the child’s bone marrow will be given a healthy copy of the RAG-1 gene in a laboratory.
Genetically modified stem cells will then be injected into the child’s bloodstream where they will transform into healthy white blood cells to hopefully build a new, functional immune system.
Children born with the genetic defect are vulnerable to life-threatening infections and can die in the first year or two of their lives if they are not treated.
Murdoch Children’s Research Institute associate professor Rachel Conyers said this new stem cell-based gene therapy could provide a life-long cure.
“Following the gene therapy, the child’s immune cells are regrown and the immune system restored, allowing the child to fight off infections,” Ms. Conyers said.
“Given the patient is their own donor, we avoid the major problems that can come with stem cell transplants.
“The children can live a normal life, play with friends, go to school, and fight off the common colds and normal infections that in the past could have made them extremely unwell or been life-threatening.”
The gene therapy will provide a “life-saving” alternative to stem cell transplants. Researchers noted that while stem cell transplants from healthy donors can already cure RAG-1 SCID, the new gene therapy could avoid and reduce lifelong complications from transplants.
The first and only gene therapy trial for RAG-1 SCID is already taking place in the Netherlands at the Leiden University Medical Centre (LUMC).
LUMC stem cell professor Frank Staal has now partnered with Ms. Conyers to broaden this trial to Australia for the first time.
Professor Staal said his team at the LUMC were the “first in the world” to produce a stem cell gene therapy for this severe combined immunodeficiency disorder.
“With the addition of the Melbourne site, we will reach two important milestones. We make this life-saving therapy available for the first time to Australian babies, but we will also tick over the 10 patient mark of those who have completed our trial to show its efficacy,” Mr. Staal said.
While the trial will be led by the Murdoch Children’s Institute, it will take place at the Royal Children’s Hospital with support from the Novo Nordisk Foundation Center for Stem Cell Medicine. Melbourne Children’s Trials Centre is also a partner in the trial.
Professor Melissa Little, CEO of the Novo Nordisk Foundation Center for Stem Cell Medicine, described the trial as a “momentous step” towards delivering the next standard of care to Australian patients.
“We are excited to bring the RAG-1 SCID trial to Murdoch Children’s,” she said.
“It demonstrates the strength of the Novo Nordisk Foundation Center for Stem Cell Medicine international collaboration and provides an ongoing pathway for clinical translation in Australia of gene and cellular therapies.”
The trial received DKK 6.2 million or A$1.38 million in funding from the Novo Nordisk Foundation Center for Stem Cell Medicine.
