Latest news with #CLN2
CBC
a day ago
- Health
- CBC
Vancouver Island family heartbroken as B.C. stops funding $1M drug for girl with terminal condition
A Vancouver Island family is in shock after learning the British Columbia government will stop funding an extremely expensive medication their young daughter needs for a rare genetic condition. Nine-year-old Charleigh Pollock is the only person in B.C. with Batten disease, or neuronal ceroid lipofuscinosis type 2 (CLN2). It's a rare and terminal genetic disorder that causes multiple seizures daily, eventually causing brain damage. Pollock's mother, Jori Fales, said the family is still processing the news, announced Wednesday, that the B.C. government will pull funding for Pollock's access to Brineura, a $1-million-per-year medication which is given through an infusion of fluid to the brain to slow the progression of CLN2. "Emotions have gone from sheer heartbreak to anger to sadness; it's just been a roller-coaster the last 24 hours," Fales said. Thursday marked Pollock's last infusion of Brineura. Fales called the government's decision to pull funding with one day's notice before the last infusion "a little heartless." She said her daughter has been let down. "At the end of the day, it should have always been the decision of her medical care team, and her family and Charleigh. And none of that has happened here." On Thursday, B.C. Minister of Health Josie Osborne said it was a tough decision to end the funding. She said the cost of the medication had nothing to do with the reason the funding was pulled, but that it was determined Pollock's condition had deteriorated to the point where she met "discontinuation criteria" for Brineura. "Clinical evidence shows that once a patient has declined in their motor and language functions by a certain amount, Brineura no longer has the benefit of slowing down the progression of the disease, although patients can continue to live on into mid-adolescence," Osborne said. Fales denied that her daughter's condition has worsened. "Charleigh is not in advanced progression of her disease. This is simply not true," she said. Dr. Ineka Whiteman, the head of research and medical affairs for the Batten Disease Support and Research Association U.S. and Australia and head of the Batten Disease Global Research Initiative, called the B.C. government's decision "appalling." She expressed frustration with the provincial government's emphasis on criteria to discontinue the medicine, which she said is based on old clinical trials. She added other families around the world are becoming concerned their access to the medication may also be reconsidered. "This is not just about a single child. This is really setting a very, very dangerous precedent." Fales said she plans to share her daughter's journey and advocate for others dealing with the disease.
Vancouver Sun
2 days ago
- Health
- Vancouver Sun
Drug coverage to be discontinued for Vancouver Island girl with fatal condition
Coverage of an expensive drug for a nine-year-old Langford girl with a rare fatal condition is being discontinued, B.C.'s Health Ministry says. Charleigh Pollock, who has a neurodegenerative condition known as Batten disease, will have her last publicly funded infusion of the drug Brineura on Thursday. The drug, which costs about $1 million a year, is intended to slow — but not stop — the decline in patients' ability to walk and talk until they reach the end stage of the disease. Health Minister Jose Osborne said Wednesday that Canada's Drug Agency has completed its review and there is no new evidence to change its 2019 recommendation to discontinue coverage of the drug, given the advanced stage of Charleigh's condition. Start your day with a roundup of B.C.-focused news and opinion. By signing up you consent to receive the above newsletter from Postmedia Network Inc. A welcome email is on its way. If you don't see it, please check your junk folder. The next issue of Sunrise will soon be in your inbox. Please try again Interested in more newsletters? Browse here. Osborne said the case has been one of the most difficult for her and her team during her time as minister. 'We all share the desire to do everything we can to care for this young girl,' she said. 'I empathize deeply with Charleigh's family and my heart goes out to them.' Reached by the Times Colonist on Wednesday, mother Jori Fales said she was still processing the news and unable to speak about the decision, which comes in the wake of a previously announced extension of coverage to June 28. Fales has said that two weeks after discontinuation of the drug, Charleigh likely faces 'rapid deterioration, irreversible loss of function and ultimately death.' 'I just need to process this for today,' she said. Charleigh's parents earlier said their daughter had seen benefits from bi-weekly treatments with Brineura, the only drug approved to treat the form of the disease that Charleigh has, known as ceroid lipofuscinosis type 2 (CLN2). Charleigh has been taking the drug for almost six years, and her family has said that as a result, she no longer has multiple seizures a day. Osborne noted that the drug is not an anti-seizure medication, adding there are other drugs to control seizures for patients with CLN2. Charleigh is the only child in B.C. and one of fewer than 20 in Canada with Batten disease, which began to affect her at the age of three, when she suffered seizures and began to lose her ability to walk and talk. The family was informed in January that the Canadian Drug Expert Committee had recommended ending the funding, and that Charleigh's last publicly funded infusion would be Feb. 27. The committee, made up of drug experts as well as lay members appointed by Canada's Drug Agency, makes reimbursement recommendations to participating federal, provincial and territorial publicly funded drug plans. The Health Ministry had said in a statement that while all provinces had adopted the national discontinuation criteria set out by Canada's Drug Agency, 'this disease is so rare that Charleigh is the first Canadian patient to reach the Canada Drug Agency's criteria for discontinuing Brineura coverage.' After the family's story went public, Osborne directed ministry staff to 'urgently review all of the facts' and determine whether the treatment had quality-of-life benefits for Charleigh. Given the extraordinary circumstances, 'we wanted to ensure no stone was left unturned,' Osborne said Wednesday. B.C. covers about 30 drugs under the Expensive Drugs for Rare Disease program. The cost of an individual drug is not a factor considered by the expert committees in recommending coverage, the Health Ministry says. Since the Expensive Drugs for Rare Diseases review process was established in 2007, the ministry has never provided ongoing coverage for a drug against the recommendations of clinical experts and criteria established by Canada's Drug Agency, a ministry statement said. Courtenay-Comox MLA Brennan Day, the B.C. Conservative critic for rural and seniors health, urged the province to reverse the decision on compassionate grounds. 'I can't imagine the emotions the family is feeling,' said Day. ceharnett@
CBC
2 days ago
- Health
- CBC
B.C. pulls funding on $1M drug for 9-year-old Vancouver Island girl with rare condition
The B.C. government said Wednesday it will be pulling funding for an extremely expensive drug used by one person in the province — a young Vancouver Island girl. Charleigh Pollock, 9, suffers from neuronal ceroid lipofuscinosis type 2, also known as CLN2 or Batten disease, a rare and terminal genetic disorder that causes multiple seizures every day, eventually causing brain damage. Pollock's name became known in 2019 when the province announced it would be covering the cost of a $1 million-per-year medication for her known as Brineura, which is given through an infusion of fluid to the brain to slow the progression of CLN2. Pollock is the only person in B.C. with the disease, which has no cure. "Expensive drugs for rare diseases add a layer of complexity to decision-making," Health Minister Josie Osborne said in a statement on Wednesday. However, she said, the cost of the medication has nothing to do with the recommendations made by medical experts that made this decision to stop coverage. Funding for the drug was approved when Pollock was three years old. Osborne said once a patient has declined in their motor and language functions by a certain amount, Brineura no longer slows the progression of CLN2. "Last year, it was determined that Charleigh's condition had progressed to the point where she met the discontinuation criteria for Brineura," she said. From there, she said the ministry undertook a review of the situation. The province said the decision to cover drugs for patients that fall under B.C.'s Expensive Drugs for Rare Diseases program are made based on recommendations from a committee of independent experts that use clinical criteria from by Canada's Drug Agency. "I know this is not what Charleigh's family wanted to hear. It's not what any of us wanted to hear," Osborne said. In a Facebook post made on June 13 prior to the decision being made, Pollock's mother Jori Fales said that after reading the Drug Agency's report, she couldn't see how the B.C. government would choose to stop coverage. She said Pollock's medical team feels continuing the medication is in her best interest. "Anything less is simply cruel and wrong," she wrote.
Yahoo
29-05-2025
- General
- Yahoo
Swindon family of girl with rare disease 'horrified' at latest trial update
The Swindon family of a young girl with a rare brain disease welcomed the news that her trial of lifesaving treatment will continue indefinitely. Addy Clarke is just one of 100 children in the world to be diagnosed with Batten Disease (CLN2), which is gradually taking away her ability to talk, eat and walk independently, and see. Her parents Hayley and Dave have previously spoken to the Adver about their heartbreak at seeing their daughter fade before their eyes while she is supported by vital cerliponase alfa treatments. Earlier this month, they celebrated NICE and the NHS coming to a commercial agreement to continue that treatment for Addy and all other children with CLN2 after the trial ends in 2025, describing the news as 'amazing'. But they were saddened to learn that the same access to the treatment would not be given to any child diagnosed after January 1, 2026. Recommended reading Building 700 homes at old golf course 'best option' for the area Family pays tribute to cyclist killed in collision by Wiltshire driver Wedding venue can continue to host events after planning appeal NICE explained that although its committee took into account the condition's rarity, severity and the effect of the treatment on quality and length of life, the most likely cost-effective estimate based on the proposed price of the medicine is not within what it considers to be an acceptable use of NHS resources. In a statement on Addy's Batten Adventure Facebook page, the Clarke family said: 'Whilst we are happy for our own little Addy, we sadly know firsthand the devastation that this news can cause on a family - which would be made all the worse if you knew other children in the country were on the same treatment that your child couldn't access because of the timing they were diagnosed, and cost. 'For us, this treatment has never been simply just about our Addy, but all children diagnosed with this earth-shattering disease - therefore we will fight on. 'The decisions by NICE have been horrific and it feels like they are trying to manipulate the pharmaceutical companies by using families as pawns in game. 'Thank you for all your support you have shown us through the ongoing questions, the donations, prayers, meals and many other things over the past five years of this journey. 'We take a big deep breath, gather our thoughts and go again.' The family has met with South Swindon MP Heidi Alexander as they try to raise awareness of this disparity in the treatment of children with the rare disease. As for Addy herself, she recently celebrated her ninth birthday by having a party with her friends and classmates at Swindon's hydrotherapy pool.
Yahoo
14-05-2025
- Health
- Yahoo
Latus Bio Unveils AAV-Ep+ Capsid Variant Capable of Unprecedented Protein Production in the Brain
PHILADELPHIA, May 14, 2025--(BUSINESS WIRE)--Latus Bio, Inc. (Latus), a biotechnology company pioneering advances in AAV gene therapy, has announced new research published today in Science Translational Medicine, "AAVs engineered for robust brain transduction drive therapeutically relevant expression of secreted recombinant protein in NHPs and a mouse model of lysosomal storage disease." The study, led by Latus founder Beverly Davidson, PhD details the development of a novel adeno-associated virus (AAV) capsid variant - AAV-Ep+ - that demonstrates unprecedented potency in transducing cells that line the ventricles, known as ependymal cells, and cerebral neurons in mice and in non-human primates (NHPs). This advancement is potentially a significant leap forward for therapeutic gene delivery, wherein the study authors demonstrate that cells transduced with AAV-Ep+ can effectively serve as protein production depots, secreting large amounts of soluble proteins into the cerebral spinal fluid (CSF) for uptake throughout the central nervous system (CNS). This potency and distribution profile could potentially result in one-time delivery of gene therapies that encode protein treatments for lysosomal storage disorders (LSDs) as well as for other neurodevelopmental and neurodegenerative diseases that result in long term benefits for patients. The AAV-Ep+ capsid variant was identified through a massively parallelled and unbiased screen of a large-diversity AAV variant library administered to NHPs. The nominated capsid, which was isolated from tens of millions of potential candidates, displays: Remarkable tropism for cells that line the ventricular system of the brain and spinal cord of adult NHPs and mice. It also efficiently transduces neurons in cortical regions of the brain that are implicated in many diseases. Robust transduction of induced pluripotent stem cell (iPSC)-derived human neurons and mice when compared to naturally occurring AAV serotypes. This cross-species activity highlights the potential for AAV-Ep+ to deliver sustained and therapeutic expression of encoded proteins in human brain cells that could result in prolonged therapeutic benefit for patients. Low dose administration of AAV-Ep+ constructs designed to express human tripeptidyl peptidase (hTPP1) to mice deficient in TPP1 (a model of human CLN2 disease - a type of LSD) as well as to NHPs result in CSF and parenchymal tissue levels that exceeded those obtained with natural serotype capsids, reaching levels that are potentially multi-fold above therapeutic values required for CLN2 patients. "This breakthrough in AAV capsid engineering represents a critical advancement in the field of gene therapy," said Dr. Beverly Davidson, Chair of the Scientific Advisory Board of Latus Bio and corresponding author of the study. "AAV-Ep+ offers a highly efficient, low-dose solution for brain-wide protein delivery, opening new possibilities for treating neurodevelopmental diseases like CLN2 disease and beyond." The study showcases Latus' unique capsid discovery platform and ability to identify AAV capsid variants that are optimized for delivery to specific tissues and cell types, seeking to address translational shortcomings to prospectively enable better gene therapies. Latus continues to advance its pipeline of novel AAV capsid variants that target disease-relevant cell types in other regions of the central nervous system (e.g., cortex, cerebellum, spinal cord) as well as in peripheral tissues (e.g., ear, eye, heart, kidney and muscle). The Company is developing cutting-edge gene therapies that aim to transform the treatment landscape of genetically defined diseases, including many with high unmet medical needs. About Latus Bio (Latus) Latus is a biotechnology company dedicated to addressing devastating CNS and peripheral diseases via gene therapy. The Company is advancing an innovative therapeutics pipeline based on novel AAV capsid variants with potency and specificity. Latus is powered by a diverse team of visionary scientists, experienced clinicians, and leading industry executives. The Company has offices in Philadelphia, PA and in the Seaport in Boston, MA. For more information, visit and follow on LinkedIn. View source version on Contacts info@ Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
