Latest news with #MECP2
News.com.au
6 days ago
- Health
- News.com.au
Hope grows as cannabis contender enters the Rett syndrome fight
Rett syndrome is rare but relentless Neuren struck biotech gold with Daybue Neurotech brings cannabis to the fight Rett syndrome is the kind of diagnosis that hits hard and lingers long. It affects around one in 10,000 girls, and typically appears after what seems like a normal start to life. Then comes the regression - loss of speech, hand skills, mobility - followed by the onset of seizures, bone fragility, gut issues, scoliosis and, often, a haunting silence that replaces early babble. It's caused by mutations in the MECP2 gene, which plays a crucial role in brain development. While it's classed as rare, the ripple effects through families are enormous. Sleep disturbances are common. Breathing irregularities, like breath-holding spells, can leave caregivers powerless. And while most girls survive into adulthood, it's with round-the-clock support and complex medical needs. AussieRett and InterRett studies Professor Helen Leonard, principal research fellow at the Kids Research Institute, has spent decades studying the condition. Leonard's long-running AussieRett and InterRett studies have helped establish how Rett symptoms evolve over time, and her team has also created global care guidelines for things like nutrition, scoliosis and bone health. 'Rett syndrome is an unusual condition in that it mainly affects girls who, following a period of apparent normal development, gradually show signs of regression," she told Stockhead. "Between the ages of 6 and 18 months they lose skills, particularly in relation to hand function and communication. 'As well as loss of hand function, these individuals develop unusual patterns of hand movements, such as hand-wringing or clapping known as stereotypies." Neuren's moonshot moment Until recently, there was no approved treatment for Rett, only a patchwork of management strategies and hope. That changed when ASX-listed Neuren Pharmaceuticals (ASX:NEU) struck gold with its drug trofinetide, now marketed as DAYBUE in the US. Approved by the FDA in March 2023, DAYBUE became the first and only drug for Rett syndrome, unlocking a commercial windfall for Neuren. Since 2019, Neuren's stock has surged over 1,200%, and the company now commands a $2 billion market cap. Thanks to a savvy licensing deal with Acadia Pharmaceuticals, Neuren pockets royalties and milestone payments with no royalty outgoings - every dollar drops to the bottom line. 'The FDA approval of trofinetide for Rett syndrome is very exciting, and represents the first ever treatment for the disorder,' said Leonard. For investors, it was a reminder that rare paediatric disorders, long overlooked, are now a serious biotech frontier. And that's where Neurotech (ASX:NTI) enters the frame, with a somewhat different approach. Cannabis steps into the ring Neurotech's lead therapy, NTI164, is a full-spectrum cannabis extract containing a cocktail of cannabinoids like CBDA, CBC and CBN. But it only contains 0.08% THC, meaning it's non-intoxicating and suitable for children. The company recently published results from its Phase I/II study in the Journal of Paediatrics and Child Health. This report shows the therapy was well tolerated and offered signs of clinical improvement across neurological, behavioural and functional domains. The drug's unique formulation is designed to reduce neuroinflammation, support synaptic function and modulate glial cells - factors believed to play a key role in Rett's progression. NTI164 is gaining traction internationally. It's already secured Orphan Drug Designation (ODD) in the US and European Union. This unlocks a range of incentives, including market exclusivity, reduced regulatory fees and access to research funding. It's the kind of support that can help fast-track rare-disease drugs through the system. Meanwhile, data from the same study was presented by lead investigator Professor Carolyn Ellaway at the World Rett Syndrome Congress. That put NTI164 front and centre in a growing global conversation about next-gen Rett treatments. Caution, hope and next steps Research into cannabis for Rett is still early, and Leonard urges caution when interpreting results from small, open-label trials. 'I think that we need a larger national double-blind placebo-controlled study before making any judgement,' she said. 'I would hope that this would use an alternative outcome measure to the RSBQ.' Her research has shown that Rett's behavioural symptoms - like those measured by the RSBQ - tend to decrease with age; unlike its clinical severity, which often worsens. That disconnect, she believes, can muddy trial results, and partially explains why she urges a broader toolkit for measuring impact in future studies. Still, she acknowledged that apart from the Rett Syndrome Symptom Severity (RTT-SIS) scale, some of the other measures used in the NTI164 study 'were showing positive changes'. She's not easily swayed by early signals but she recognises momentum when it's building. And regulators seem to agree. A closer look under NTI's hood From a clinical standpoint, NTI164 is ticking key boxes. Its pharmacokinetic (PK) data shows rapid absorption, minimal THC exposure and consistent dosing with no cannabinoid build-up - making it suitable for chronic paediatric use. NTI164 has also shown promising results in other paediatric neurological conditions like autism and PANDAS/PANS, potentially supporting its use in Rett by building a broader safety and efficacy profile. Perhaps most notably, its primary cannabinoid, CBDA, doesn't just convert into CBD like many assume. It appears to act directly on the brain, interacting with receptors linked to mood and inflammation. That matters because Rett isn't just neurological, it's deeply inflammatory. 'The clear validation of systemic stability, safety and targeted therapeutic action highlights NTI164's potential as a disease-modifying therapy,' said Neurotech CEO, Dr Anthony Filippis. Whether that turns into a commercial home run is still to be seen, but NTI164 has already demonstrated solid safety and early signs of symptom relief. In Rett, that bar is high. So are expectations. And that's what makes Neurotech's path an interesting one to watch. At Stockhead we tell it like it is. While Neurotech is a Stockhead advertiser, it did not sponsor this article.
Yahoo
24-05-2025
- Health
- Yahoo
The Story I Never Got To Report: A Medical Breakthrough That Could Have Saved My Son
Journalists, by profession and nature, look for stories. We search for what's new, important, long-awaited, surprising or hidden so we can share it and help people understand the world. There is no better job. We're also competitive, scanning headlines and bylines, looking at what others have found to see if we've been scooped. Last week I read a headline in the New York Times that stopped me in my tracks. It was the story I wished with all my soul I could have written myself a few years ago, before it was too late for my son Henry. I'd already written it in my head. And yet there it was in front of me. 'Baby Is Healed With World's First Personalized Gene-Editing Treatment.' The sub-headline declared: 'The technique used on a 9½-month-old boy with a rare condition has the potential to help people with thousands of other uncommon genetic diseases.' Henry, who passed away two years ago this summer, had one of those other uncommon genetic diseases. It is called Rett syndrome and is caused by a tiny mutation of a gene called MECP2 in our DNA. I didn't know what MECP2 was until the diagnosis. The names of genetic diseases are codes. More specifically, they are coordinates that locate on the genetic map the exact spot where an error is located. Henry's problem, the root of the issue that prevented him from walking, talking and breathing properly, was right there in the MECP2 gene. Yet it remained unreachable. Genetic diseases tease you. You stare into a glass box. You can see the culprit, but can not touch him. If only that little genetic quirk, that typo among billions of coded characters could be repaired, then everything else would fall into place. 'The baby, now 9 ½ months old,' The New York Times reported, 'became the first patient of any age to have a custom gene-editing treatment, according to his doctors. He received an infusion made just for him and designed to fix his precise mutation.' I wished I could have broken the story with Henry as patient zero. I had imagined the roll-out too, coming back on the set of TODAY with Henry and his mother Mary, who has written about Henry's life and losing him for We'd sit with Savanah Guthrie, who has been supporting ongoing research using Henry's cells, and talk — cautiously, hopefully and thankfully — about the progress we were seeing. I allowed myself to imagine saying that Henry was starting to speak. He had been awakened, cured and reborn. There wouldn't be a dry eye in the studio. I never got to do that story about Henry. Sometimes our timelines don't overlap with scientific progress. They rarely do. Mary and I are full of nothing but joy that from now on, so many other families will be able to write new and wonderful stories of their own. This article was originally published on
Time Magazine
08-05-2025
- Business
- Time Magazine
Alvin Luk
Alvin Luk, CEO of HuidaGene, is using his experience in big pharma to lead the small Shanghai and New Jersey-based biotech on a path towards creating one-time CRISPR gene-editing treatments for rare medical conditions. In November 2024, the U.S. FDA cleared the company's drug HG202, a treatment for a rare eye condition called neovascular age-related macular degeneration, for a phase 1 clinical trial to evaluate its safety and efficacy. The first few patients who received the treatment in clinical tests in China starting in 2023 have reported improvements in their vision and no adverse effects. A month later, the company announced it had administered its treatment to the first patient in a Duchenne muscular dystrophy trial and also for its trial for a rare and fatal neurodevelopmental disorder called MECP2 duplication syndrome. Based on preliminary data presented in April, the 9-year-old boy with MECP2 duplication syndrome showed improvements in motor and social skills after treatment, though many hurdles remain before full approval.
