{"id":338832,"date":"2025-12-09T11:21:14","date_gmt":"2025-12-09T11:21:14","guid":{"rendered":"https:\/\/www.newsbeep.com\/us\/338832\/"},"modified":"2025-12-09T11:21:14","modified_gmt":"2025-12-09T11:21:14","slug":"giant-step-forward-for-huntingtons-the-scientist-behind-the-first-gene-therapy","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/us\/338832\/","title":{"rendered":"\u2018Giant step forward\u2019 for Huntington\u2019s \u2014 the scientist behind the first gene therapy"},"content":{"rendered":"\n

On a video call in early September, Sarah Tabrizi first saw the data that she and other researchers studying Huntington\u2019s disease had been chasing for decades: compelling evidence<\/a> that a gene-targeting therapy could slow the relentless progression of the neurodegenerative brain disorder.<\/p>\n

Before these results, \u201cI was beginning to get a little bit worried that maybe, by the time people develop symptoms, that it was going to be too late to treat\u201d, says Tabrizi, a neurologist who directs the Huntington\u2019s Disease Centre at University College London. But here was powerful validation that the window for treating the rare, hereditary condition remains open \u2014 offering a chance for meaningful, disease-modifying interventions.<\/p>\n<\/p>\n

\u201cIt\u2019s a giant step forward,\u201d says Tabrizi, who was the trial\u2019s lead scientific adviser. \u201cThe dial has been shifted.\u201d<\/p>\n

The first-in-class gene therapy \u2014 called AMT-130 and developed by uniQure, a biotechnology company in Amsterdam \u2014 uses a harmless virus to deliver strands of genetic material into affected brain regions. Once there, the therapy switches off production of the faulty mutant huntingtin protein that slowly destroys brain cells.<\/p>\n

The clinical data set was small, involving just 12 people who received a high dose of the therapy. And the treatment is invasive, requiring lengthy brain surgery. But t<\/a>he results were striking<\/a>. On a standard rating scale used to assesses motor and cognitive functions and other measures of daily living, the scores of participants receiving the high dose dropped by just 0.38 points over three years. That\u2019s compared with a reduction of 1.52 points for people in a control group, meaning that the treatment slowed the rate of decline by 75%. That clinical benefit was reinforced by molecular validation: spinal-fluid levels of a protein linked to dying brain cells had gone down in the treatment recipients, the opposite of what typically occurs as the disease progresses.<\/p>\n

After digesting the findings, Tabrizi and her close collaborator Ed Wild, a fellow neurologist at University College London, shared what Wild describes as a \u201cmassive hug\u201d. But, after that, it was right back to the daily demands of patient care and research. \u201cWe\u2019ll celebrate very unreservedly \u2014 but briefly,\u201d Wild says. \u201cWe\u2019re like an episode of The West Wing: it\u2019s always, \u2018What\u2019s next?\u2019\u201d<\/p>\n

Next for Tabrizi and Wild are leading roles in evaluating five other huntingtin-lowering therapies in clinical development, along with several others poised to enter human trials soon. Tabrizi is also spearheading laboratory studies into the mechanisms of neurodegeneration \u2014 work that could yield many other drug candidates in the future.<\/p>\n

\u201cSarah is amazing,\u201d says Hugh Rickards, a neuropsychiatrist at the University of Birmingham, UK. \u201cShe\u2019s the spider in the middle of the web. You name a disease-modifying therapy in HD \u2014 she\u2019s got her hand on it somewhere.\u201d<\/p>\n

Plus, \u201cshe\u2019s one of the nicest people you\u2019ll ever meet\u201d, says Samuel Frank, a neurologist at the Beth Israel Deaconess Medical Center in Boston, Massachusetts, who, like Rickards, has worked with Tabrizi on Huntington\u2019s trials.<\/p>\n

Playing a part in nearly every important clinical advance means that she also carries the scars of the field\u2019s most agonizing disappointments. Only four years ago, another p<\/a>romising huntingtin-targeted therapy<\/a>, tominersen, faltered in late-stage trials. Overall, the drug failed to improve people\u2019s outcomes compared with those of the control group and it came with dangerous side effects at higher doses. As principal investigator of the nearly 800-person study, the unenviable task of explaining the results to participating families fell to Tabrizi. \u201cIt was heartbreaking,\u201d she says.<\/p>\n

She recalls her message to the distraught community: \u201cTrials are scientific experiments,\u201d she says. \u201cThrough failure, as painful as it is, is often how you learn.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"On a video call in early September, Sarah Tabrizi first saw the data that she and other researchers…\n","protected":false},"author":2,"featured_media":338833,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[34],"tags":[3615,13056,97,1159,10545,1160,18371,79,5965],"class_list":{"0":"post-338832","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-health","8":"tag-brain","9":"tag-gene-therapy","10":"tag-health","11":"tag-humanities-and-social-sciences","12":"tag-medical-research","13":"tag-multidisciplinary","14":"tag-neurodegeneration","15":"tag-science","16":"tag-therapeutics"},"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/338832","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/comments?post=338832"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/338832\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media\/338833"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media?parent=338832"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/categories?post=338832"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/tags?post=338832"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}