Latest news with #rarediseases
Yahoo
24-05-2025
- Health
- Yahoo
Scientists develop breakthrough blood test for rare genetic disorders in children
In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can accurately diagnose rare genetic diseases in infants and children, potentially within days. The new test could spare families from months or even years of uncertainty, replacing costly, invasive procedures like muscle biopsies with a single, comprehensive diagnostic tool. While genome sequencing has transformed the landscape of rare disease detection, it still fails to deliver answers in about half of all cases. The new blood test bridges this diagnostic gap by assessing the pathogenicity of thousands of gene mutations at once, dramatically accelerating the path to treatment and hope for affected families. Researchers say the new blood test can rapidly detect abnormalities in up to 50 percent of all known rare genetic diseases. 'If our blood test can provide clinical diagnoses for even half of the 50 percent of patients who don't get a diagnosis through genome sequencing, that's a significant outcome as it means those patients don't have to undergo unnecessary and invasive testing such as muscle biopsies, which for a baby requires general anaesthetic and that doesn't come without risks,' University of Melbourne Associate Professor David Stroud said in a release. Murdoch Children's Research Institute Professor David Thorburn said that by providing patients and their families with a rapid clinical diagnosis, the chances of survival increased, as treatment, if available, could begin much sooner. "Even in cases where a child has died from an undiagnosed genetic disease, this new test can be carried out on tissue samples to determine the genetic mutation responsible for their death. Such diagnoses not only provide closure to families, but this information can also be used in IVF to help the parents to have future children who have not inherited the life-threatening disease,' Thorburn said. The research team reportedly benchmarked their new test against an existing clinically accredited enzyme test provided by the Victorian Clinical Genetics Services at MCRI, with a focus on mitochondrial diseases—a group of severe and rare disorders that deplete the body's cells of energy, potentially leading to organ dysfunction or failure, and even death. They found that, in comparison, their new test was more effective in confirming a mitochondrial disease diagnosis, being significantly more sensitive, accurate, and capable of delivering faster results. 'A recent health economics analysis in collaboration with the Melbourne School of Population and Global Health showed that our test could be offered at a similar cost to the enzyme test that is currently offered clinically for mitochondrial diseases, but our test is much more cost-effective as it can test for thousands of different genetic diseases, whereas other functional tests are mostly targeted to a small number of genetic disorders,' Dr Daniella Hock said. "Thanks to a $3 million Australian Government Medical Research Future Fund grant, researchers are now in the process of recruiting 300 patients with a range of different genetic disorders to participate in a study to investigate the broad utility of their diagnostic test," he added. It is expected that the test will eventually be offered as a diagnostic service through the Victorian Clinical Genetic Services. The new research has been published in the journal Genome Medicine.
Reuters
22-05-2025
- Health
- Reuters
Prices for new US drugs doubled in 4 years as focus on rare disease grows
May 22 (Reuters) - U.S. prices for newly-launched pharmaceuticals more than doubled last year compared to 2021, as companies leveraged scientific advances to develop more therapies for rare diseases, which typically command high prices, a Reuters analysis found. The median annual list price for a new drug was over $370,000 in 2024, according to the Reuters survey of 45 medicines. In 2021, the median price was $180,000 for the 30 drugs first marketed through mid-July, according to a study published in JAMA based on the same criteria. The median launch price was $300,000 in 2023 and $222,000 in 2022. The increase in prices has occurred even as the U.S. government tries to rein in prescription costs. Drug pricing has become a populist issue for President Donald Trump, who has called for drugmakers to bring U.S. prices in line with other high-income nations that pay far less. William Padula, professor of pharmaceutical and health economics at the University of Southern California, said there is no indication that the trend will slow — at least until there is progress in lowering the cost of developing new therapies. "For years we've had pretty good technology and solutions for a lot of the common conditions that many people have, like high cholesterol, high blood pressure, and managing the more common forms of cancer," Padula said. For rare diseases, there are fewer patients "and therefore the price per course of treatment is going to go up," he said. The percentage of drugs launched for orphan diseases, meaning they affect fewer than 200,000 Americans, rose to 72% in 2024 from 51% in 2019, according to the Iqvia Institute for Human Data Science. Over 40% of the orphan launches were for oncology. The other 28% included drugs for larger populations, such as schizophrenia drug Cobenfy, sold by Bristol Myers (BMY.N), opens new tab at a list price of $22,500 a year. The leading industry trade group, the Pharmaceutical Research and Manufacturers of America, said focusing on list prices for drugs that treat rare diseases "misses the broader context of how these drugs contribute to overall prescription drug spending, healthcare costs and value to patients." Decoding of the human genome, completed in 2003, has paved the way for better understanding of the genetic and biological underpinnings of rare diseases, leading to advancements in medical science. Drugmakers are given incentives to invest in research for rare diseases, including longer periods of market exclusivity, in part because potential sales may be limited. Boston Consulting Group projected the 2024 crop of drug launches would reach peak annual sales of $60 billion, significantly lower than past averages due to the absence of mega-blockbusters, a term used to describe drugs with annual sales above $10 billion. The FDA approved 57 novel drugs last year, including seven new cell and gene therapies at the agency's biologic division. In 2023, the agency approved 55 drugs and 17 new biologics. Reuters surveyed the makers of 45 new drugs launched last year. The price analysis excludes imaging agents, vaccines, drugs used intermittently such as antibacterials, and products that have not yet launched commercially. The highest price for a drug taken consistently was over $1 million a year for Zevra Therapeutics' (ZVRA.O), opens new tab Miplyffa for Niemann-pick disease type C, an inherited metabolic disorder diagnosed in about 900 people in the United States. Orchard Therapeutics' Lenmeldy gene therapy for a rare inherited disorder that affects the brain and nervous system, was launched last year at a record-high price of $4.25 million for a one-time treatment. Pfizer's (PFE.N), opens new tab hemophilia gene therapy Beqvez was priced in 2024 at $3.5 million, but the company pulled it from the market less than a year later citing soft demand. Pharmaceutical companies say new medicines offer cost-saving value, including potentially fewer emergency room visits and hospital stays, and with some treatments using gene editing, the possibility of a cure. Drugmakers also stress they do not determine the portion of drug costs that are born by patients under health insurance plans. Many offer savings cards and other programs to reduce out-of-pocket costs, while insurers can receive discounts and rebates from manufacturer list prices, especially if competing treatments are available.
Zawya
12-05-2025
- Health
- Zawya
PTC Therapeutics launches office at Dubai Science Park
DUBAI - PTC Therapeutics, a global biopharmaceutical leader in rare diseases, has launched a Middle East and North Africa (MENA) office at Dubai Science Park to enhance access to transformative medicines for patients with rare diseases in the region. Specialising in developing and commercialising breakthrough therapies for rare diseases globally, PTC's new facility will serve as a regional hub for its MENA operations, focused on delivering PTC's growing portfolio of innovative treatments and solutions to rare disease patients and enhancing health outcomes. It is estimated that around 350 million people worldwide are affected by rare diseases, and around 2.8 million are known to have a rare disease in the Middle East region. 'We are excited to have a physical presence in the region and are looking forward to serve many more patients, across diverse portfolio of therapeutics areas, and with unwavering commitment,' said Zeina Sfeir, Head of MENA, PTC Therapeutics. Marwan Abdulaziz Janahi, Senior Vice President of Dubai Science Park, part of TECOM Group PJSC, said, 'Dubai Science Park's ecosystem is a uniting platform for innovative researchers, clinicians, and biological pharmacists. We welcome partners such as PTC Therapeutics in our endeavour to translate scientific progress into effective therapies that improve health outcomes, contributing to Dubai Research and Development Programme, Dubai Economic Agenda 'D33', and We the UAE 2031.' For almost 10 years, PTC has fostered long-standing partnerships with regional stakeholders and contributed to improving rare disease patient outcomes in the region with a transformative treatment for Duchenne Muscular Dystrophy (DMD) and a gene therapy for Aromatic L-amino Acid Decarboxylase (AADC) Deficiency.
