Claire Booth, a gene therapy researcher in London, had hoped that a biotech company would take her team’s work on an experimental medication for an ultra-rare children’s disease and get it to market. It didn’t happen. Now, in an unusual step, the hospital where she works is trying to get the medicine approved on its own.
Booth, who leads the stem cell gene therapy program at London’s Great Ormond Street Hospital for Children, is trying to overcome the fact that many biopharma companies have abandoned promising genetic therapies for ultra-rare diseases or halted their research programs in these conditions.
The snag isn’t one of science. Rather, it’s that drug companies often don’t see a possibility of making a return on these medicines, which are immensely expensive to design, treat diseases that only a small number of patients have, and require lengthy regulatory approvals. As a result, many patients with ultra-rare diseases are left without treatment options.
Great Ormond Street Hospital is one of a growing number of hospitals that are taking matters into their own hands. By developing and testing their own treatments, these hospitals are providing hope to patients who would otherwise have none. However, it is a challenging and expensive endeavor, and it is unclear how many hospitals will be able to follow in Great Ormond Street Hospital’s footsteps.
Booth’s team is currently working on a gene therapy for a condition called X-linked severe combined immunodeficiency (XSCID), which affects about one in 50,000 male infants. XSCID is a life-threatening condition that leaves patients without a functioning immune system. The gene therapy that Booth’s team is developing would insert a healthy copy of the gene that is mutated in XSCID patients into their stem cells. This would allow the patients’ bodies to produce a functioning immune system.
The gene therapy is still in the early stages of development, but Booth’s team has already seen promising results in animal models. They are now hoping to start clinical trials in humans within the next year.
If the clinical trials are successful, the gene therapy could provide a life-saving treatment for XSCID patients. It would also be a major step forward in the development of gene therapies for ultra-rare diseases.
