Latest news with #SanfilippoSyndrome
Yahoo
13-07-2025
- Business
- Yahoo
Ultragenyx (RARE) Falls 26% as New Treatment Fails to Get FDA Green Light
Ultragenyx Pharmaceutical Inc. (NASDAQ:RARE) is one of the Ultragenyx fell by 26.05 percent week-on-week as investor sentiment was largely dragged down by the Food and Drug Administration's (FDA) rejection of its biologics license application (BLA) for its UX111 (ABO-102) treatment. In a regulatory filing, Ultragenyx Pharmaceutical Inc. (NASDAQ:RARE) said that the FDA requested additional information and improvements in relation to certain chemistry, manufacturing, and controls (CMC) aspects. It noted that the observations were not related to product quality concerns product, adding that many of the issues have already been addressed. UX111 was developed to treat a common type of Sanfilippo syndrome, a group of genetic conditions that begin in early childhood and causes severe brain damage and early death. A research team in a laboratory peering through microscopes at a biologic product. The treatment involves managing symptoms, as there are currently no approved disease-modifying medicines. Ultragenyx Pharmaceutical Inc. (NASDAQ:RARE) said it plans to resubmit updated clinical data from current patients after resolving the FDA's concerns. A new review could take another six months upon resubmission of a revised BLA application. While we acknowledge the potential of RARE as an investment, our conviction lies in the belief that some AI stocks hold greater promise for delivering higher returns and have limited downside risk. If you are looking for an extremely cheap AI stock that is also a major beneficiary of Trump tariffs and onshoring, see our free report on the . READ NEXT: 30 Stocks That Should Double in 3 Years and 11 Hidden AI Stocks to Buy Right Now. Disclosure: None. This article is originally published at Insider Monkey.
Yahoo
30-06-2025
- Health
- Yahoo
'She Stopped Talking At 2': 5-Year-Old's Dementia Diagnosis Began With These Early Warning Signs
A grandparent has opened up about the early warning signs that led to her grandchild's devastating dementia diagnosis. Sabrina Peake said her granddaughter Esmay Ford, who is five, stopped talking at the age of two. She was also constantly 'picking up colds', remaining ill 'for weeks at a time', and her hair was falling out in 'big clumps', according to the Mail Online. Esmay's mum Alisha Morris was concerned for her daughter, so she took her to the doctor's and was told she had an autoimmune disease and overactive thyroid. But after genetic testing more recently, the family were given the heartbreaking news that their daughter has Sanfilippo syndrome, a rare form of childhood dementia. Children with this disease lack an enzyme which breaks down large sugar molecules. As the molecules accumulate in the cells of the body, they cause irreparable damage to the organs, including the brain. Childhood dementia occurs because of progressive brain damage. It is caused by over 100 rare genetic disorders, which children are born with, according to the Childhood Dementia Initiative. It's estimated one in every 2,900 babies globally is born with a condition that can cause childhood dementia. Unfortunately, because of the nature of the disease, many children diagnosed with the cruel condition don't live past 18 years old. The symptoms are similar to those in adults, and can include: Memory loss Confusion Trouble concentrating, understanding, learning and communicating Personality changes Disturbed sleep Behavioural issues such as hyperactivity Emotional issues like anxiety and fear. There are also specific clinical features of Sanfilippo syndrome, such as: Coarse facial features / coarse and thick hair Frontal bossing (prominent forehead) Macrocephaly (a larger sized head) Chronic nasal congestion Toe-walking Seizures Hearing loss Lack of fear (of danger) Gastrointestinal discomfort and colic Increased food intake or nursing. Esmay's family, who are based in Devon, said her condition will progressively worsen. They are currently raising funds to take her to Disneyland and also buy specialist equipment to care for her, like a modified bed. The Sanfilippo Children's Foundation notes: 'As the brain gets progressively damaged, children experience severe hyperactivity, disordered sleep, loss of speech, cognitive decline, cardiac issues, seizures, loss of mobility, and finally death, usually before adulthood.' Esmay's grandmother Sabrina Peake told the Mail Online: 'We've had to come to terms with the fact that we will lose her, and that things will be extremely tough going forward as she gets worse. 'Our biggest fear aside from losing her at such a young age, is watching her suffer.' It's estimated that 700,000 children globally live with childhood dementia. In the UK, it's estimated 204 die from the disease each year. The Sanfilippo Children's Foundation said there is no treatment or cure for those with a diagnosis, however several clinical trials have already been completed or are underway. So far, the foundation said gene therapy looks to be the most promising. 'My Child Is Worried He's Not Real. He Ended Up Sobbing Because Of It' It's Not Social Media – What Teens Say Is Damaging Their Mental Health Most Dementia Risk Starts In Childhood And Even Infancy, Scientists Warn
Daily Mail
29-06-2025
- Health
- Daily Mail
My five-year-old daughter has childhood Alzheimer's and isn't expected to live past her teen years - these are the two early symptoms I spotted
A heartbroken mother spotted her daughter's 'childhood Alzheimer's ' after she stopped talking aged two - and is now desperate to make memories before it's 'too late'. Esmay Ford, five, was diagnosed with Sanfilippo Syndrome (MPS IIIA) on May 15 - a rare, life-limiting genetic form of childhood dementia that causes mental deterioration, memory loss and personality changes. Esmay's mother, Alisha Morris, 24, and grandmother, Sabrina Peake, 45, grew concerned about the 'healthy' tot in 2021, after she stopped talking and was constantly 'picking up colds'. The family was initially told by doctors that Esmay had an autoimmune disease and overactive thyroid, which had caused her brain to stop developing. They 'hoped and prayed' that medication would help with her brain development, but after a series of genetic testing, Esmay was diagnosed with MPS IIIA. Also known as 'childhood Alzheimer's' due to the similarity in symptoms, the disorder affects the brain and nervous system causing cognitive decline. The degenerative disorder means that Esmay's life expectancy is between 10 to 18 years old, and her condition will get progressively worse until 'her body totally gives up on her'. Five-year-old Esmay is now unable to recognise her family and needs 'constant supervision' as she is unable to walk and has 'no awareness of danger'. Her family are desperate to 'give her the best life' before her condition becomes too severe, and are raising money for a trip to Disney Land, as well as vital equipment such as a modified bed and shower. Sabrina, a flight attendant, from Crediton, Devon, said: 'We knew something was wrong when she stopped talking, and then her hair started to fall out in big clumps. 'Esmay doesn't know much about it as she's in her own little world most the time, but it's been incredibly tough for us. 'She can barely walk and she can't talk, and she has no awareness and doesn't interact with anyone. 'I don't think she always knows who we are. She is now is the healthiest she'll be, she'll get worse every day until her body totally gives up on her.' Sabrina was 'over the moon' when her daughter Alisha gave birth to a 'happy and healthy' baby girl on 9th August 2019. As a toddler, Esmay started to talk and loved playing in the park, dancing, and interacting with others. In 2021, at two and a half years old, Sabrina and Alisha noticed that Esmay had become withdrawn and had stopped talking. Sabrina explained: 'We noticed she didn't like doing the things she used to like doing like going down the slide at the park and dancing to music. 'She would pick up bugs and colds and would be ill for weeks at a time - we knew something was wrong. 'When her hair started to fall out, we took her to Exeter Hospital A&E and had to really push for answers.' Blood tests revealed that little Esmay had an auto immune disease and overactive thyroid, and after further genetic testing she was diagnosed with MPS IIIA. Doctors have warned her family that her mobility and cognitive ability will continue to deteriorate, and that she will have a significantly shorter life expectancy. Sabrina said: 'We've had to come to terms with the fact that we will lose her, and that things will be extremely tough going forward as she gets worse. Our biggest fear aside from losing her at such a young age, is watching her suffer.' Esmay's family are now raising money to cover the costs of the equipment she will need as her condition deteriorates, as well as 'making memories' with her while they can. Sabrina said: 'We don't know what the future holds, but we're raising money to get Esmay all the things she will need to support her, and make the remainder of her life as comfortable as possible. 'She will need special car seats, a bath and shower chair, a padded, zip up cot and bed, a reclining disabled special buggy, plus many more things. 'We also want to give her the best life now, before she gets worse. 'We'd love to take her to Disneyland, but this is the healthiest she'll be so we'd need to go soon. 'I have watched my beautiful granddaughter rapidly decline over the last few years which is heartbreaking. 'I would give anything to hear her talk, laugh, or even smile again. 'To know that I will never hear her speak again is so hard to accept.' You can donate to the GoFundMe here - WHAT IS SANFILIPPO SYNDROME? Sanfilippo syndrome is a genetic and terminal disorder that affects around one in 70,000 live births. Victims lack an enzyme that is essential for normal cellular function. The condition eventually causes a buildup of a toxic material - heparin sulfate - resulting in dementia, loss of speech, blindness and eventual death. The disease is referred to as childhood Alzheimer's due to the effects. Sufferers typically die before they are out of their teens. There is no known cure, however clinical trials are being conducted in order to find one.
Business Wire
24-06-2025
- Business
- Business Wire
Notice of Orphan Drug Designation for JR-446 for Mucopolysaccharidosis Type IIIB by European Commission (EC)
TOKYO & HYOGO, Japan--(BUSINESS WIRE)-- MEDIPAL HOLDINGS CORPORATION (TSE 7459, MEDIPAL) and JCR Pharmaceuticals Co., Ltd. (TSE 4552, JCR) today announced that the European Commission (EC) has granted orphan drug designation (ODD) to JR-446, an investigational drug for the treatment of mucopolysaccharidosis type IIIB (MPS IIIB or Sanfilippo syndrome type B), following the recent the U.S. Food and Drug Administration (FDA) designation. 1 MPS IIIB affects an estimated 500 to 1,000 individuals worldwide, 2 causing severe central nervous system (CNS) symptoms. Despite the dire need, there are currently no approved treatments available for this condition. JR-446, developed using JCR's proprietary J-Brain Cargo ® technology, has shown promising non-clinical results in addressing the CNS symptoms of this challenging disorder, and it is currently being studied in a Phase I/II trial that is being conducted in Japan (JR-446-101) under a collaboration agreement between the two companies. In September 2023, MEDIPAL and JCR entered into a licensing agreement in which MEDIPAL will commercialize JR-446 for MPS IIIB outside of Japan. In addition, MEDIPAL will support JCR in the clinical development of JR-446 in Japan, including the distribution of investigational drugs, disease awareness, and clinical trial advancement. 3 With the ODD, JR-446 will be eligible for various incentives to encourage the development in the European Union (EU). About Orphan Drug Designation in the European Union The European Commission implements orphan designation drug for promoting new drug development for rare diseases in which the prevalence of the condition affects no more than five in 10,000 people in the European Union (EU). Designated drugs are granted market exclusivity for 10 years in the EU, as well as scientific guidance. Fee reductions are also available depending on the status of the sponsor and the type of service required. About Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) Mucopolysaccharidosis type IIIB, or Sanfilippo syndrome type B, is an autosomal recessive disease caused by pathogenic mutations in the NAGLU gene, encoding a lysosomal enzyme involved in the degradation of heparan sulfate. With the accumulation of heparan sulfate in the central nervous system in the brain, individuals with this condition present rapid neurological decline, including sleep disorders, loss of speech, and behavioral changes, which may significantly affect the quality of life of patients and their families. About the J-Brain Cargo ® Platform Technology JCR Pharmaceuticals has developed a proprietary blood-brain barrier-penetrating technology J- Brain Cargo ®, to bring biotherapeutics into the central nervous system. The first drug developed based on this technology is IZCARGO ® (INN: pabinafusp alfa) and was approved in Japan for the treatment of a lysosomal storage disorder. About MEDIPAL HOLDINGS CORPORATION MEDIPAL is a holding company which controls, administers and supports the operating activities of companies in which it holds shares in the Prescription Pharmaceutical Wholesale Business; the Cosmetics, Daily Necessities and OTC Pharmaceutical Wholesale Business; and the Animal Health Products and Food Processing Raw Materials Wholesale and Related Business, and conducts business development for the MEDIPAL Group. For more information, visit About JCR Pharmaceuticals Co., Ltd. JCR is a global specialty pharmaceuticals company dedicated to advancing treatments for rare and genetic diseases. With nearly 50 years of expertise in Japan, JCR is expanding to the US, Europe, and Latin America. JCR's innovative therapies address conditions like growth disorder, MPS II, Fabry disease, acute graft-versus-host disease, and renal anemia. JCR is also developing treatments for rare diseases like MPS I, MPS II, MPS IIIA and B, and more. For more information, visit Cautionary Statement Regarding Forward-Looking Statements This document contains forward-looking statements that are subject to known and unknown risks and uncertainties, many of which are outside our control. Forward-looking statements often contain words such as 'believe,' 'estimate,' 'anticipate,' 'intend,' 'plan,' 'will,' 'would,' 'target' and similar references to future periods. All forward-looking statements regarding our plans, outlook, strategy and future business, financial performance and financial condition are based on judgments derived from the information available to us at this time. Factors or events that could cause our actual results to be materially different from those expressed in our forward-looking statements include, but are not limited to, a deterioration of economic conditions, a change in the legal or governmental system, a delay in launching a new product, impact on competitors' pricing and product strategies, a decline in marketing capabilities relating to our products, manufacturing difficulties or delays, an infringement of our intellectual property rights, an adverse court decision in a significant lawsuit and regulatory actions. This document involves information on pharmaceutical products (including those under development). However, it is not intended for advertising or providing medical advice. Furthermore, it is intended to provide information on our company and businesses and not to solicit investment in securities we issue. Except as required by law, we assume no obligation to update these forward-looking statements publicly or to update the factors that could cause actual results to differ materially, even if new information becomes available in the future. References Reference: Press release on the orphan drug designation for JR-446 for Mucopolysaccharidosis Type IIIB by the U.S. FDA (May 7, 2025). Based on data from JCR's own investigations, referring to the Ministry of Health, Labour and Welfare's public research. Reference: Press release on the licensing agreement for JR-446 between MEDIPAL and JCR (September 28, 2023).
CBS News
16-06-2025
- Health
- CBS News
South Florida family navigates diagnosis similar to Alzheimer's in children — what every parent should know
A rare genetic disorder known as Sanfilippo syndrome, often called "Childhood Alzheimer's," is robbing a South Florida 9-year-old of her abilities and her future. The progressive brain disorder, which causes children to lose speech, mobility and memory, has no cure and families like Sara Ruiz Montoya's are left clinging to moments while advocating for awareness, early screening and research. When Carolina Montoya sees her daughter laughing on the trampoline or reading books, she holds onto those moments tightly. Sara's parents know each memory could be one of the last. A rare disease that mimics Alzheimer's in young children Sara was born full-term, but early signs, frequent infections, digestive issues and developmental delays raised questions. Her mother's persistence led to a diagnosis at Nicklaus Children's Hospital, where geneticist Dr. Parul Jayakar recognized the signs immediately. "It's related to a missing enzyme or a faulty enzyme," Dr. Jayakar explained. "And what happens is because this enzyme is missing, it doesn't break down certain substances." Carolina said, "Because it has kind of the same consequences in the body, so it was someone that develops normally for a few years of their life. So Sara was a regular 3-year-old, kind of, and suddenly they start forgetting everything and they start losing all the abilities." Sanfilippo syndrome is fatal. Carolina recalled hearing her daughter's prognosis: "If you read through all the MPSs, all of them are mortal diseases. 100% fatal. So she was almost 4, and in some of the MPSs, the life expectancy is until 6. So for me it was like, you're telling me that I have 2 years with my daughter?" Today, Sara's life expectancy is closer to 15 years, but her condition is worsening. "It's pretty obvious lately that she's coming to the last stage of her condition," Carolina said. "She used to be a girl that laughed from the moment that she woke up to the moment that she went to sleep. Now you see sometimes that she complains, or she's in pain, or she's calm." At night, Sara sleeps in a safety bed. Children with Sanfilippo tend to sleep less as their condition progresses. Despite it all, her parents are focused on the time they have left. "I say that their lives is like having trying to trying to grab water in your hand," her father Alejandro Ruiz said. "You could try as hard as you want and you can grasp as hard as you want, it's going to slip away anyway." "It's important to be aware of this condition" There is currently no cure or treatment and the condition is not part of newborn screenings. Clinical trials are rare, but two are underway, and Dr. Jayakar remains hopeful. "I think it's important to be aware of this condition because there are a lot of clinical trials available and soon I'm hoping there'll be a treatment by the end of this year," she said. For the Ruiz Montoya family, awareness is vital. "Even though there's nothing to do… we try to advocate," Alejandro said. "We still do any anything we can do to get a cure. Might not be for her, but so no one else has to go through this."
