{"id":424687,"date":"2026-04-30T06:13:08","date_gmt":"2026-04-30T06:13:08","guid":{"rendered":"https:\/\/www.newsbeep.com\/ie\/424687\/"},"modified":"2026-04-30T06:13:08","modified_gmt":"2026-04-30T06:13:08","slug":"irish-baby-among-worlds-first-to-receive-experimental-gene-therapy-the-irish-times","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/ie\/424687\/","title":{"rendered":"Irish baby among world\u2019s first to receive experimental gene therapy \u2013 The Irish Times"},"content":{"rendered":"

An Irish child is among a small group whose progress is being monitored internationally after receiving a potentially life-saving experimental gene therapy in the United States<\/a>.<\/p>\n

It was not a move to be taken lightly as a catheter was fed directly into the baby\u2019s brain during the procedure. <\/p>\n

But her parents brought her to the administering clinic in Dayton, Ohio, last summer with hope, having received the devastating news that she had Canavan disease<\/a>. <\/p>\n

Babies with Canavan usually show no signs at birth but suffer delayed development as their brains deteriorate over time due to one faulty enzyme.<\/p>\n

The family were told in Ireland that they should take their baby home and make her comfortable because there was no treatment available.<\/p>\n

Fortunately, they were offered an alternative when their daughter entered a clinical trial in the US. <\/p>\n

The experimental treatment sees a surgeon insert a catheter to deliver virus particles. These particles act as vehicles to transfer a specific gene \u2013 which acts as a recipe for an enzyme \u2013 directly to the brain cells. The cells then follow the recipe and manufacture the enzyme. <\/p>\n

The surgery took just 30 minutes, but follow-up care and check-ups meant the family stayed in Ohio for three months with their daughter who was aged about five months at the time. <\/p>\n

The initial results looked promising and the family travelled back recently for a six-month evaluation. <\/p>\n

Infants with Canavan may show poor head control, listlessness and later develop feeding difficulties, seizures and life-threatening health issues. <\/p>\n

Previously, getting a diagnosis for Canavan disease could be difficult and parents would then be told there was no treatment. <\/p>\n

This is something Dr Lee Coffey, a lecturer and molecular biologist at South East Technological University<\/a> in Waterford<\/a>, experienced when his twin brother had two children who received the devastating diagnosis.<\/p>\n

\u201cIt took months of persistence for them to finally find out, and in the meantime the symptoms were accumulating,\u201d Coffey recalls. They had to pay privately for their own genetic sequencing. <\/p>\n

The family live in Melbourne, Australia and the oldest child is now about 10 years of age so it is sadly unlikely that the new therapy will help.<\/p>\n

The faulty enzyme leads to a toxic build-up of a compound in the brain, which causes the child\u2019s brain and health to deteriorate. There was no treatment offered for Coffey\u2019s nephews after their diagnosis. <\/p>\n

Coffey changed the direction of his research as a direct result of seeing what his brother and his family were going through.<\/p>\n

\u201cI had never heard of it [Canavan disease]. I was Googling like everyone else,\u201d Coffey recalls. <\/p>\n

He began collaborating with US scientists who were working on viruses to deliver a gene therapy by intravenous injection. This research was led by scientists at the University of Massachusetts in Boston, a separate group to the Ohio trial. <\/p>\n

Coffey aimed to make a \u201csuper enzyme\u201d in his lab by developing variations of the natural enzyme. In animal studies, his modified enzyme was more active than the natural version and therefore could be considered for a future therapy.<\/p>\n

It could mean a lower dose of the therapy and fewer copies of the modified enzyme gene achieving the same effect \u2013 potentially lowering costs and minimising any side effects. <\/p>\n

The earlier you can get a working copy of the gene into the brain cells of patients the better. <\/p>\n

This will result in production of the functioning enzyme, called aspartoacyclase (Aspa), which does the job of clearing away N-acetyl-aspartic acid (NAA). <\/p>\n

NAA is a natural compound in the brain but without the working enzyme it piles up to harmful levels and impacts the insulation (myelin) around nerve cells. This insulation is crucial for the speed and integrity of nerve signals. <\/p>\n

A child\u2019s health will then deteriorate as they age and the condition is often fatal by the age of 10. Gene therapy aims to land a working gene into enough brain cells so that adequate quantities of the Aspa enzyme are made for the child\u2019s life. Stopping damage to the brain as early in life as possible is the best scenario. <\/p>\n

Back in Ohio, neurosurgeon Dr Rob Lober at Dayton\u2019s Children Hospital carried out the procedure on the Irish baby. He was satisfied with how it went. <\/p>\n

\u201cWithin the first month she was laughing in our clinic and there were changes that the family could see,\u201d he says. There were also positive signs of reduced swelling on brain scans. <\/p>\n

The surgeon had been apprehensive after the very first procedure. \u201cI sat there thinking: \u2018Oh God, what have I done? I\u2019ve just injected trillions of viral particles into this brain,\u2019\u201d Lober recalls. <\/p>\n

Our small community hospital probably has the most experience in the world in Canavan disease, because we\u2019ve seen so many patients. But you don\u2019t want to give false hope. This is still an experiment<\/p>\n

\u2014 \u00a0Dr Rob Lober, neurosurgeon at Dayton\u2019s Children Hospital, Ohio<\/p>\n

Patients\u2019 families have travelled from Ireland, Chile, Argentina and Slovakia and stayed in Dayton for months to allow for follow-up. <\/p>\n

\u201cI didn\u2019t expect to see much of a result for the first one to three months,\u201d says Lober. \u201cWhat we\u2019re seeing is that within a couple of weeks they\u2019re brighter, they\u2019re more alert.\u201d <\/p>\n

It is still uncertain what dose to give \u2013 whether one injection will be enough or when children might be too old to benefit as they deteriorate over time, accruing damage to their brains that might not be recoverable.<\/p>\n

\u201cOur small community hospital probably has the most experience in the world in Canavan disease, because we\u2019ve seen so many patients,\u201d says Lober. \u201cBut you don\u2019t want to give false hope. This is still an experiment.\u201d <\/p>\n

The family, who have asked not to be named, say they were delighted with the care provided by the medical team at Dayton\u2019s Children\u2019s Hospital. <\/p>\n

\u201cWhile it is still early days, we are already beginning to see some positive impacts of the treatment and we can say without doubt that we have a happier, more content little baby,\u201d the family told The Irish Times. <\/p>\n

The therapy was developed by Prof Paola Leone, a neuroscientist at Rowan-Virtua College of Medicine and Science in New Jersey. <\/p>\n

\u201cCanavan disease is an ideal candidate for gene therapy. It is caused by a single gene and it affects a single organ,\u201d says Leone. <\/p>\n

She spent three decades working on a therapy for the disease, after publishing a small study on the condition in the 1990s. This led to parents showing up at Yale University lab carrying their three-month-old baby who had just been diagnosed with the disease. <\/p>\n

\u201cI was a junior researcher at the time and I didn\u2019t even have funding,\u201d she recalls. \u201cCanavan found me, rather than me finding Canavan.\u201d <\/p>\n

Her group last year reported positive results from eight children with the condition, including the baby from Ireland, in the scientific journal Nature Medicine. The procedure can be more straightforward with babies, since they have a natural soft spot on their head that a surgeon can sneak a catheter through. <\/p>\n

The biotech company Myrtelle, based in Wakefield, Massachusetts, is leading the trial. <\/p>\n

Jordana Holovach, head of communications and community at the firm, says it plans to submit a biologics licence application to the US Food and Drug Administration<\/a> this year, with potential approval in 2027. <\/p>\n

Holovach set up a non-profit organisation to fund research and raise awareness of Canavan after her first child, Jacob, was diagnosed with the condition. <\/p>\n

Lober admits he had some worries about the experimental procedure. \u201cI came to this late. I didn\u2019t really know what to expect,\u201d says Lober. <\/p>\n

\u201cYou walk this tightrope as a surgeon, with the stress of potentially causing adverse side effects. But it\u2019s been an amazing experience.\u201d <\/p>\n

Aside from Canavan disease, there are other rare genetic disorders called leukodystrophies that also cause damage to the oligodendrocytes \u2013 the support cells around nerves that assist with critical white matter insulation. <\/p>\n

It is hoped the gene therapy techniques being developed for Canavan babies may also prove helpful in treating children with these other conditions.<\/p>\n","protected":false},"excerpt":{"rendered":"An Irish child is among a small group whose progress is being monitored internationally after receiving a potentially…\n","protected":false},"author":2,"featured_media":424688,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6],"tags":[76750,25879,61,60,155264,80,115,6513],"class_list":["post-424687","post","type-post","status-publish","format-standard","has-post-thumbnail","category-technology","tag-children-s-health","tag-food-and-drugs-administration","tag-ie","tag-ireland","tag-south-east-technological-university","tag-technology","tag-united-states","tag-waterford"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts\/424687","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/comments?post=424687"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts\/424687\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/media\/424688"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/media?parent=424687"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/categories?post=424687"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/tags?post=424687"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}