"Things look really hopeful right now, but Ollie was the first human to receive this therapy and it's only been nine months out, said Prof Simon Jones, consultant in paediatric inherited metabolic disease at the Manchester Centre for Genomic Medicine (MCGM) at Saint Mary's hospital. We have four more boys scheduled in and we will need to prove the benefit is long lasting, said Jones, the joint leader of the trial."
"Oliver was born with a condition called Hunter syndrome. It is caused by a faulty gene that prevents the body from making a crucial enzyme that breaks down complex sugar molecules. Over time, these molecules accumulate in organs and tissues, causing an array of symptoms from joint stiffness and hearing loss to heart problems and cognitive decline, resembling dementia. Life expectancy is typically 10 to 20 years."
A one-off gene therapy collected stem cells from a three-year-old with Hunter syndrome, replaced the faulty gene with a working copy, and re-infused the corrected cells. The corrected stem cells began producing high levels of the missing enzyme, which reached the brain. The treated child has not required weekly Elaprase infusions since the procedure. The therapy is part of an ongoing clinical trial with four more boys scheduled and long-term benefit remains unproven. Hunter syndrome causes complex sugar accumulation, multi-organ damage, cognitive decline and typically short life expectancy. Existing enzyme replacement does not reach the brain and is lifelong and costly.
Read at www.theguardian.com
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