A Groundbreaking Gene Therapy Offers New Hope for Children with Devastating Inherited Disorder
In a major breakthrough, doctors are cautiously optimistic about the effectiveness of a groundbreaking gene therapy for children suffering from Hunter syndrome, a devastating inherited disorder that affects one in 100,000 males worldwide. The treatment, which was first administered to three-year-old Oliver Chu from California nine months ago as part of a clinical trial, has shown promising results so far.
The gene therapy involves collecting stem cells from the patient's blood and replacing the faulty gene with a working copy. The corrected stem cells are then re-infused back into the bloodstream, where they begin producing high levels of the enzyme needed to break down complex sugar molecules that accumulate in organs and tissues, leading to a range of symptoms including joint stiffness, hearing loss, and cognitive decline.
According to Dr. Simon Jones, consultant in paediatric inherited metabolic disease at the Manchester Centre for Genomic Medicine, "things look really hopeful right now," but it's still early days and more patients need to be treated to confirm the benefits. The trial has already shown that Oliver no longer requires weekly Elaprase infusions, a sign that the treatment is working.
Oliver was born with Hunter syndrome, which has a typically short life expectancy of 10-20 years. However, his father Ricky says he feels like "it's gone very, very well" since having the therapy, and Oliver's speech, agility, and cognitive development have all improved dramatically.
While the gene therapy is not yet licensed for widespread use, its potential to treat other genetic disorders that impair vital enzymes such as Hurler syndrome and Sanfilippo syndrome is being explored. To increase access to this treatment, researchers are working on developing a newborn screening program using a heel prick test, which is already standard in some countries.
The trial has involved five boys from the US, Europe, and Australia, but due to the rarity of the condition in the UK, no local patients have been recruited yet. However, doctors are hopeful that with continued research and development, this groundbreaking gene therapy could one day provide new hope for children suffering from Hunter syndrome and other devastating inherited disorders.
In a major breakthrough, doctors are cautiously optimistic about the effectiveness of a groundbreaking gene therapy for children suffering from Hunter syndrome, a devastating inherited disorder that affects one in 100,000 males worldwide. The treatment, which was first administered to three-year-old Oliver Chu from California nine months ago as part of a clinical trial, has shown promising results so far.
The gene therapy involves collecting stem cells from the patient's blood and replacing the faulty gene with a working copy. The corrected stem cells are then re-infused back into the bloodstream, where they begin producing high levels of the enzyme needed to break down complex sugar molecules that accumulate in organs and tissues, leading to a range of symptoms including joint stiffness, hearing loss, and cognitive decline.
According to Dr. Simon Jones, consultant in paediatric inherited metabolic disease at the Manchester Centre for Genomic Medicine, "things look really hopeful right now," but it's still early days and more patients need to be treated to confirm the benefits. The trial has already shown that Oliver no longer requires weekly Elaprase infusions, a sign that the treatment is working.
Oliver was born with Hunter syndrome, which has a typically short life expectancy of 10-20 years. However, his father Ricky says he feels like "it's gone very, very well" since having the therapy, and Oliver's speech, agility, and cognitive development have all improved dramatically.
While the gene therapy is not yet licensed for widespread use, its potential to treat other genetic disorders that impair vital enzymes such as Hurler syndrome and Sanfilippo syndrome is being explored. To increase access to this treatment, researchers are working on developing a newborn screening program using a heel prick test, which is already standard in some countries.
The trial has involved five boys from the US, Europe, and Australia, but due to the rarity of the condition in the UK, no local patients have been recruited yet. However, doctors are hopeful that with continued research and development, this groundbreaking gene therapy could one day provide new hope for children suffering from Hunter syndrome and other devastating inherited disorders.
I think it's amazing that there's a treatment on the horizon for kids like Oliver who've got to deal with such an awful condition. I mean, 10-20 years is just heartbreaking - it's like, what do you even do? 
But if this gene therapy works out, and it's not too expensive or hard to access, that'd be a total game-changer for families like Oliver's. It's crazy that they're already seeing improvements in his speech, agility, and cognitive development... I hope more patients get to experience that! 
they take stem cells from the blood & replace faulty genes with healthy ones now oliver's been treated 9 months ago & his symptoms are GONE 
he dont need weekly injections no more! the doc says its still early days but things look super hopeful 
researchers r also exploring this tech 4 other conditions w/ similar enzyme issues 
I've got some tea on this gene therapy - it's like, super promising! I know someone who has a cousin with Hunter syndrome and it's heartbreaking to see them struggle. But hearing that Oliver's speech, agility, and cognitive development have all improved dramatically since the treatment is insane! I'm not surprised though, doc's been saying some hopeful things about this therapy for ages 
. I'm keeping my fingers crossed that this treatment becomes widely available ASAP 
I mean omg can u believe it?? they're actually making progress on treating hunter syndrome?! it's like a miracle 
the fact that oliver's speech & agility have improved so much since the therapy is mind-blowing! I've been following this story for ages and i'm so hyped that they might be able to help other kids too 
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it's just not right. so yeah, let's celebrate this breakthrough and keep pushing forward, but we can't lose sight of the fact that there's still so much work to be done 