Latest news with #LCA4
Newsweek
16-05-2025
- Business
- Newsweek
The New Era of Life Sciences: The Future is Now
When we published our 2024 report, children suffering from Leber Congenital Amaurosis 4 (LCA4)—a severe inherited retinal dystrophy—had only hope that one day they might see the world. Today, thanks to an investigational gene therapy, we know that the 11 children who participated in the trials can, for the first time in their lives, discern a toy, recognize a human face and even spot a grain of sand. The biotech behind this achievement is MeiraGTx, which has now filed its therapy for approval under exceptional circumstances in the U.K., which would expedite the process. Stories like that of MeiraGTx illustrate the transformative power of gene therapies on patients. More broadly, they highlight the potential for rare diseases R&D to emerge as the principal driver of therapeutic innovation. "Rare diseases have become a critical area for exploring new treatment modalities because, in many cases, there is no existing therapy, or even a model. For patients who have no options, innovative approaches are important," shares Marc Dunoyer, the CEO of Alexion, the rare diseases subsidiary of AstraZeneca. Ironically, the very severity and uncommonness of these illnesses can also be a blessing, as it allows for bolder approaches by both researchers and regulators. Moreover, rare disease drugs have historically had higher approval success rates compared to other drugs. The Tufts Center for the Study of Drug Development found that orphan-designated drugs had a Phase-1-to-approval success rate of 17 percent, compared to 7.9 percent for non-orphan drugs. Benefiting from faster approval pathways and enhanced regulatory incentives, entrepreneurs in the field face better odds of innovating successfully. And when they do, the implications of their therapies go far beyond their original target. "Many of the advances seen today, such as gene editing and RNA-based therapies, originated in rare disease research before moving into larger indications," says Dunoyer. Arcturus Therapeutics, for instance, is addressing cystic fibrosis via a new delivery mechanism. "Our cystic fibrosis program is a prime example, where the ability to inhale mRNA safely could have a huge impact on the pharmaceutical industry. The rare disease field offers a shorter regulatory pathway to approval and a higher likelihood of success. This makes it an attractive space for evaluating next-generation technologies like mRNA therapeutics," shares Arcturus' CEO, Joseph Payne, as the company is expecting results from their Phase 2 trials in 2025. Matt Sause, CEO, Roche Diagnostics. Credit: Courtesy of Roche Diagnostics. Matt Sause, CEO, Roche Diagnostics. Credit: Courtesy of Roche Diagnostics. We can perform comprehensive genomic profiling to uncover the molecular basis of a tumor. This allows doctors to provide tailored treatments. Over time, this will enable us to move to a future where we understand the molecular drivers for cancer and can deliver truly personalized healthcare. Jacob Thaysen, CEO, Illumina. Credit: Courtesy of Illumina. Jacob Thaysen, CEO, Illumina. Credit: Courtesy of Illumina. Whether it is providing clarity for families dealing with rare genetic disorders or enabling rapid and precise cancer diagnoses, our goal is to ensure patients receive the answers they need when they need them. This report has been paid for by a third party. The views and opinions expressed are not those of Newsweek and are not an endorsement of the products, services or persons mentioned. Click here to download the full report
Yahoo
05-03-2025
- Health
- Yahoo
Gene Therapy Partially Restores Sight in Legally Blind Children
A promising study out of the United Kingdom has partially restored the vision of multiple small children born legally blind. The experimental treatment uses gene therapy to resolve a retinal disorder called LCA4, which prevents the eye from distinguishing objects in a person's environment. Though limited, the study suggests that blindness caused by genetic defects could be curable. LCA4—short for leber congenital amaurosis-4—is caused by a series of mutations in the AIPL1 gene, which is responsible for the function and survival of the retina's photoreceptors. When AIPL1 is defective, the eye can't see; at best, a person can only see vague spots of light. People with LCA4 experience blindness from infancy, with some losing even the ability to perceive light as they age. Today, it appears gene therapy can help to restore at least some LCA4-related vision loss. In a study at University College London's Institute of Ophthalmology, researchers placed healthy copies of the AIPL1 gene within a virus engineered to target retinal cells without triggering actual illness. (This part isn't particularly new; engineered adeno-associated viruses have been used to deliver DNA to cellular targets for years now.) Once in the retinal cells, the "new" AIPL1 gene replaced the defective version, helping to slow the deterioration of the retina and even develop healthy photoreceptors. The study was published in the February issue of The Lancet. In an effort to protect and build upon LCA4 patients' extremely limited sight before it was too late, the researchers selected children ages 1 through 3, who experienced severe retinal dystrophy but could still perceive small amounts of light. Each of four children received an injection of healthy AIPL1 in one eye while under anesthesia. Then the team monitored the children's health and vision, conducting different light and color perception tests as the children aged. A child participant locates a small white object against a dark background after receiving gene therapy for LCA4. Credit: Michaelides et al, The Lancet/DOI 10.1016/S0140-6736(24)02812-5 All four children showed "meaningful responses" to the therapy—in fact, while vision improved remarkably in every treated eye, each untreated eye lost its ability to perceive light entirely. The children gained the ability to sort different-colored crayons into cups, follow a pen light, locate tiny white objects on a dark background, navigate a normally lit corridor, identify doors, and even draw. According to the researchers, the children have each moved from "legally blind" status to "low vision" status, amounting to a massive quality-of-life upgrade. Since the completion of this study, the researchers have begun working with a second cohort of seven children who have received treatment in both eyes. Results of this trial aren't quite ready yet, but they must be encouraging, as the team notes they are "exploring the feasibility of making the [treatment] more widely available."
The Independent
21-02-2025
- Health
- The Independent
Parents of boy with rare eye condition hail ‘amazing' results of gene therapy
A couple whose son was among one of the first patients in the world to receive an innovative treatment for a rare genetic condition that causes blindness has said he can now pick small things up off the floor and identify toys from a distance. Jace, from Connecticut, USA, was diagnosed with leber congenital amaurosis type 4 (LCA4) – a rare inherited eye disease that causes blindness – when he was just a baby. He was selected for the pioneering gene therapy after his parents had a 'chance encounter' with the UK specialist involved in the trial. His parents Brendan and DJ, who did not wish to share their surname, said the results have been 'pretty amazing'. Jace, now six, was one of four children selected to have the treatment by specialists from Moorfields Eye Hospital and UCL Institute of Ophthalmology. Doctors performed keyhole surgery and injected healthy copies of the affected gene into the retina, the light-sensitive layer of tissue at the back of the eye. Three to four years on, vision in the treated eyes has 'improved substantially', according to findings now published in The Lancet. Jace's mum DJ, 35, told the PA news agency: 'Pre-surgery, at around two years old, you could have held up any object, even a couple of inches away from Jace's face, and he would not be able to track it. 'It didn't matter how bright it was, what colour it was, what shape it was. 'And now we get calls and notes home from school that he's stealing phones out of teachers' back pockets, which is hysterical to us. 'Probably not the best thing to be happening in school, but it just goes to show how much growth he's had in his visual abilities over the past four years. 'And that's unheard of with LCA4 – you don't progress to having more vision naturally. 'It's a progression of losing it before the age of four years old. So it's amazing to watch him.' Dad Brendan, 36, added: 'He's picking up small things off the floor. He's calling out toys. 'He's doing things that are really driven by his sight, that never would have, in our opinion, had been done before or would have been done. 'We can hold up our phone, for example, and he'll tell us, this is our phone from a good distance away. Or hold up a toy, and he can tell us what toy it is. 'If he drops something when he's eating, even if it's the smallest thing, like a Cheerio, or a gummy bear, or whatever it may be, he's able to find it on the tile or on the carpet and pick it up. 'We try to get him to not eat it, but he picks it up, I guess that's a treat for him if he can find it. It's fine with us. It's pretty amazing.' DJ added that the family feels 'lucky' to have been given the opportunity for treatment. 'There's such a need to amplify how this treatment has been working because we think about all the other parents that are sitting there with their five-month-old scared out of their mind about what their future is going to look like,' she said. 'We were so lucky to have been able to have this option available to us and to Jace. 'No parent wants to not do as much as humanly possible for their child. 'So yes, it's giving the gift of sight to these children, but it's also giving the ability for other parents to be able to make this decision for their child by making the treatment more mainstreamed and available to the masses.' DJ suspected something was not right with her son when he was eight weeks old and he was not looking at her and smiling. His eyes would dart around and roll, which the couple later found out was nystagmus, a condition that causes involuntary eye movements. DJ said being selected for the treatment felt 'very fortuitous'. She told PA the couple had a 'chance encounter' with Professor Michel Michaelides, a consultant retinal specialist at Moorfields Eye Hospital and professor of ophthalmology at the UCL Institute of Ophthalmology, at a conference about two months before their son was formally diagnosed with LCA4. 'We knew he had LCA, we didn't know his gene variant,' she added. 'Michel was speaking at this LCA family conference in Philadelphia, and we got his contact information on the off chance that Jace would have had a version of LCA that he and his team were researching. 'Hearing the genetic diagnosis of LCA and knowing this is the exact version that Dr Michaelides and Bainbridge and their whole team at Moorfields were researching, there was almost an excitement in the room when his results were being read. 'We started the conversations almost immediately after getting his report, and we're in constant contact with the Moorfields team ever since.' The family travelled to London in September 2020, during the Covid-19 pandemic, and quarantined for two weeks in hospital housing. 'Jace's surgery was the last day in September of 2020,' DJ said. 'He went in happy as a clam, the staff was amazing in keeping him well rested and entertained, and Brendan and myself too. 'The surgery was pretty quick. He was only under for about an hour. He has four little, kind of, I won't even call them scars, just really like pinpoints, in his eye from where they actually injected the gene therapy. 'And he came out of surgery dancing, singing, making all the nursing staff laugh. He was happy to be eating afterwards and back in our arms. 'His recovery, other than having to tolerate an eye patch for a couple of days and some drops that he didn't really like, it was pretty easy.' Brendan said he noticed a difference within the first month when his son reacted to the sun shining through a window. 'He kind of pulled himself back,' he said. 'It wasn't just even an eye shut, it was more of a physical reaction. 'And I remember welling up and getting really emotional because that was the first time that Jace ever had any reaction to any sort of light stimulus or anything of the sort. 'From there, it's been pretty amazing.' It is not yet known if the gene therapy will have a permanent impact on Jace's vision. DJ said: 'We've been prepped that at some point nature kind of takes over the way that nature intended. 'I think we don't expect this to be the treatment that gets him through the rest of his life, there's always going to be changes likely in his vision, but at a certain point, too technology is getting better every single day. 'Just being able to have more children treated through this genetic therapy is going to help to give more context to what's happening within the LCA4 community. 'And our hope is that this treatment becomes more mainstreamed, and maybe if he does start to lose his vision down the road if he has a retina that's still intact, maybe there is the option for retreatment down the road. 'But this first step was huge in being able to make that a reality.'
Yahoo
20-02-2025
- Health
- Yahoo
Parents of boy with rare eye condition hail ‘amazing' results of gene therapy
A couple whose son was among one of the first patients in the world to receive an innovative treatment for a rare genetic condition that causes blindness has said he can now pick small things up off the floor and identify toys from a distance. Jace, from Connecticut, USA, was diagnosed with leber congenital amaurosis type 4 (LCA4) – a rare inherited eye disease that causes blindness – when he was just a baby. He was selected for the pioneering gene therapy after his parents had a 'chance encounter' with the UK specialist involved in the trial. His parents Brendan and DJ, who did not wish to share their surname, said the results have been 'pretty amazing'. Jace, now six, was one of four children selected to have the treatment by specialists from Moorfields Eye Hospital and UCL Institute of Ophthalmology. Doctors performed keyhole surgery and injected healthy copies of the affected gene into the retina, the light-sensitive layer of tissue at the back of the eye. Three to four years on, vision in the treated eyes has 'improved substantially', according to findings now published in The Lancet. Jace's mum DJ, 35, told the PA news agency: 'Pre-surgery, at around two years old, you could have held up any object, even a couple of inches away from Jace's face, and he would not be able to track it. 'It didn't matter how bright it was, what colour it was, what shape it was. 'And now we get calls and notes home from school that he's stealing phones out of teachers' back pockets, which is hysterical to us. 'Probably not the best thing to be happening in school, but it just goes to show how much growth he's had in his visual abilities over the past four years. 'And that's unheard of with LCA4 – you don't progress to having more vision naturally. 'It's a progression of losing it before the age of four years old. So it's amazing to watch him.' Dad Brendan, 36, added: 'He's picking up small things off the floor. He's calling out toys. 'He's doing things that are really driven by his sight, that never would have, in our opinion, had been done before or would have been done. 'We can hold up our phone, for example, and he'll tell us, this is our phone from a good distance away. Or hold up a toy, and he can tell us what toy it is. 'If he drops something when he's eating, even if it's the smallest thing, like a Cheerio, or a gummy bear, or whatever it may be, he's able to find it on the tile or on the carpet and pick it up. 'We try to get him to not eat it, but he picks it up, I guess that's a treat for him if he can find it. It's fine with us. It's pretty amazing.' DJ added that the family feels 'lucky' to have been given the opportunity for treatment. 'There's such a need to amplify how this treatment has been working because we think about all the other parents that are sitting there with their five-month-old scared out of their mind about what their future is going to look like,' she said. 'We were so lucky to have been able to have this option available to us and to Jace. 'No parent wants to not do as much as humanly possible for their child. 'So yes, it's giving the gift of sight to these children, but it's also giving the ability for other parents to be able to make this decision for their child by making the treatment more mainstreamed and available to the masses.' DJ suspected something was not right with her son when he was eight weeks old and he was not looking at her and smiling. His eyes would dart around and roll, which the couple later found out was nystagmus, a condition that causes involuntary eye movements. DJ said being selected for the treatment felt 'very fortuitous'. She told PA the couple had a 'chance encounter' with Professor Michel Michaelides, a consultant retinal specialist at Moorfields Eye Hospital and professor of ophthalmology at the UCL Institute of Ophthalmology, at a conference about two months before their son was formally diagnosed with LCA4. 'We knew he had LCA, we didn't know his gene variant,' she added. 'Michel was speaking at this LCA family conference in Philadelphia, and we got his contact information on the off chance that Jace would have had a version of LCA that he and his team were researching. 'Hearing the genetic diagnosis of LCA and knowing this is the exact version that Dr Michaelides and Bainbridge and their whole team at Moorfields were researching, there was almost an excitement in the room when his results were being read. 'We started the conversations almost immediately after getting his report, and we're in constant contact with the Moorfields team ever since.' The family travelled to London in September 2020, during the Covid-19 pandemic, and quarantined for two weeks in hospital housing. 'Jace's surgery was the last day in September of 2020,' DJ said. 'He went in happy as a clam, the staff was amazing in keeping him well rested and entertained, and Brendan and myself too. 'The surgery was pretty quick. He was only under for about an hour. He has four little, kind of, I won't even call them scars, just really like pinpoints, in his eye from where they actually injected the gene therapy. 'And he came out of surgery dancing, singing, making all the nursing staff laugh. He was happy to be eating afterwards and back in our arms. 'His recovery, other than having to tolerate an eye patch for a couple of days and some drops that he didn't really like, it was pretty easy.' Brendan said he noticed a difference within the first month when his son reacted to the sun shining through a window. 'He kind of pulled himself back,' he said. 'It wasn't just even an eye shut, it was more of a physical reaction. 'And I remember welling up and getting really emotional because that was the first time that Jace ever had any reaction to any sort of light stimulus or anything of the sort. 'From there, it's been pretty amazing.' It is not yet known if the gene therapy will have a permanent impact on Jace's vision. DJ said: 'We've been prepped that at some point nature kind of takes over the way that nature intended. 'I think we don't expect this to be the treatment that gets him through the rest of his life, there's always going to be changes likely in his vision, but at a certain point, too technology is getting better every single day. 'Just being able to have more children treated through this genetic therapy is going to help to give more context to what's happening within the LCA4 community. 'And our hope is that this treatment becomes more mainstreamed, and maybe if he does start to lose his vision down the road if he has a retina that's still intact, maybe there is the option for retreatment down the road. 'But this first step was huge in being able to make that a reality.'
