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Associated Press
10-03-2025
- Health
- Associated Press
Sigrid Therapeutics Secures U.S. Market Access for SiPore® Technology Following SHINE Prediabetes Study Success
STOCKHOLM, March 10, 2025 /CNW/ -- Sigrid Therapeutics (Sigrid) is excited to announce that it has secured U.S. market access for its proprietary SiPore® technology, following the success of the SHINE study, the largest of its kind in prediabetes. The study demonstrated that Carb Fence™, an medical-grade, fast-acting liquid formula powered by SiPore®, effectively reduces long-term blood sugar levels HbA1c (A1C), improves glucose metabolism, and reduces body weight - while preserving muscle mass. These robust findings position Carb Fence™ as a pioneering medical food in the U.S., a category recognized by the FDA for the dietary management of diseases or conditions under physician supervision, as defined by the Orphan Drug Act. With the U.S. medical food market experiencing rapid growth, Carb Fence™ stands out as the first clinically validated medical food specifically developed for prediabetes—a condition affecting one in three U.S. adults. 'These achievements not only validate SiPore® as a safe, effective, and accessible solution to the diabetes and obesity crises but also position the platform for growth across multiple industries', says Sana Alajmovic, Co-Founder & CEO of Sigrid Therapeutics. The SHINE study1, a double-blind, placebo-controlled, randomized trial, aimed to assess the safety and tolerability of SiPore®-powered Carb Fence™ while confirming its efficacy across key metabolic markers. The SHINE study, a randomized, placebo-controlled trial, enrolled 318 participants with elevated blood sugar levels and excess body weight and was conducted across 27 clinics in three European countries. Carb Fence™ significantly reduced A1C from baseline in both males and females. The female group achieved a clinically relevant, statistically significant, placebo-adjusted reduction, providing strong evidence of the product's mechanism of action. While males experienced comparable, clinically meaningful A1C reductions, statistical significance versus placebo was not reached due to a stronger placebo response—an occurrence well-documented in clinical research.2 Notably, many participants in the male placebo group showed significant improvements in liver health, likely due to reduced alcohol consumption. This suggests unintended lifestyle changes, despite instructions to maintain their usual habits. Excluding participants with substantial liver health improvements from the analysis eliminated the placebo effect on A1C. 2 Vambheim SM, Flaten MA. A systematic review of sex differences in the placebo and the nocebo effect. J Pain Res. 2017 Jul 31;10:1831-1839.
Yahoo
17-02-2025
- Business
- Yahoo
Global Market for Rare Disease Diagnostics to Grow at 9.9% CAGR
"Advances in Genomic Technologies and Multi-Omics Approaches Propel Rare Disease Diagnostics Market, with AI Poised to Revolutionize Clinical Interpretation" BOSTON, Feb. 17, 2025 /PRNewswire/ -- According to the latest study from BCC Research, "Rare Disease Diagnostics: Technologies and Global Markets" is projected to increase from $21.6 billion in 2024 to $34.7 billion by the end of 2029, at a compound annual growth rate (CAGR) of 9.9% from 2024 through 2029. This report offers quantitative and qualitative data in order to help readers develop business strategies, understand the market landscape, and make informed decisions about rare disease diagnostic products and services. The report covers molecular genetics, cytogenetics, and biochemical testing techniques. It includes market data for 2023 and forecasts for 2024 to 2029, segmented by analysis platform, target, disease class, test purpose, and region. It discusses the market drivers, restraints, trends, opportunities, and the competitive landscape, along with research initiatives and global sequencing projects that link genetic variation to rare disease diagnostics. Global efforts to link genetic variants to rare diseases, are supported by numerous initiatives and large-scale sequencing projects. However, new FDA regulations on laboratory-developed tests (LDTs) could challenge the market in North America by increasing costs and slowing development. This makes studying the rare disease diagnostics market crucial for industry participants. The factors driving the market include: Significant Unmet Need in Rare Disease Diagnostics: Many rare diseases remain undiagnosed or misdiagnosed. This unmet need drives demand for advanced diagnostic tools to provide accurate and timely diagnoses. Orphan Drug Act: This legislation provides incentives for developing treatments for rare diseases, including tax credits and market exclusivity. It encourages investment in rare disease diagnostics as part of the broader effort to develop orphan drugs. Advances in Gene Therapy: Gene therapy offers potential cures for genetic disorders, increasing the need for precise diagnostics to identify suitable candidates for these therapies. This drives innovation in diagnostic technologies. Rare Disease Initiatives: Government and non-profit initiatives raise awareness and funding for rare disease research and diagnostics. These initiatives support the development and adoption of new diagnostic tools. Advances in Genomic Technologies and Analytical Tools: Innovations in genomic sequencing and bioinformatics enable more detailed and accurate analysis of genetic data, improving the diagnosis of rare diseases. Decreasing Cost of Next-Generation Sequencing (NGS): The cost of NGS has significantly decreased, making it more accessible for routine diagnostic use. This affordability accelerates the adoption of NGS in rare disease diagnostics. Request a sample copy of the global market for rare disease diagnostics report. Report Synopsis Report Metric Details Base year considered 2023 Forecast period considered 2024-2029 Base year market size $19.7 billion Market size forecast $34.7 billion Growth rate CAGR of 9.9% for the forecast period of 2024-2029 Segments covered Analysis Platform, Analysis Target, Disease Class, Test Purpose Regions covered North America, Europe, Asia-Pacific, Rest of the World Countries covered U.S., Canada, Mexico, Germany, U.K., France, Italy, Spain, Switzerland, Denmark, Norway, Poland, Belgium, Austria, Netherlands, Sweden, Luxembourg, Finland, Estonia, Russia, China, Japan, Australia, South Korea, India, Singapore, New Zealand, Taiwan, Singapore, Malaysia, Thailand, the Philippines, Indonesia, Brazil, Turkey, Argentina, Israel, U.A.E., South Africa, Egypt, Turkey, Iran, Iraq, Peru, Columbia Market drivers • Significant unmet needs in rare disease diagnostics • Orphan Drug Act • Advances In gene therapy • Rare disease initiatives • Advances in genomic technologies and analytical tools • Dropping cost of NGS Interesting facts: Rare diseases affect over 400 million people globally, representing 2% to 6% of the world's population. There is no universal definition for rare diseases; their prevalence varies by region. Fewer than 5% of rare diseases have FDA-approved treatments. Many rare diseases remain undiagnosed, even with whole genome sequencing, which has a diagnostic rate of about 25%. The report addresses the following questions: How big is the rare disease diagnostics market, and how fast is it growing?The market was $19.7 billion in 2023 and is expected to grow to $34.7 billion by the end of 2029, with a yearly growth rate of 9.9%. What market segments are covered in the report?The analysis of the global rare disease diagnostics market includes historical data and market projections by analysis platform, analysis target, disease class, test purpose, and region. Which analysis platform type will dominate the market in 2029?NGS is expected to dominate the market through 2029. Which analysis target type is growing the fastest?The whole genome sequencing (WGS) segment is the fastest growing. Market leaders include: 3Billion Inc. Ambry Genetics Arup Laboratories BGI Centogene N.V. Dante Omics Illumina Inc. Laboratory Corporation of America Holdings Letsgetchecked Inc. (Privapath Diagnostics Inc.) Quest Diagnostics Inc. Revvity Other related reports include: Next-generation Sequencing: Emerging Clinical Applications and Global Markets: This report covers sequencing methods, genetic variation in testing, and key research initiatives. It discusses liquid biopsy formats and market trends, providing data and forecasts for NGS diagnostics in oncology and infectious diseases. The report also examines regional markets and industry sectors, offering profiles over 100 companies and summarizing recent acquisitions and alliances. Global Markets for Orphan Drugs: This report focuses on the use of orphan drugs in rare diseases. It examines the regulatory framework, patents, recent innovations and market projections and shares. The report includes regional analysis for North America, Europe, Asia-Pacific, and the Rest of the World. It also reviews clinical trial trends from 1999-2018, the competitive landscape, acquisition strategies, and collaborations, highlighting market strengths, weaknesses, and evolving customer needs. Purchase a copy of the report direct from BCC Research. For further information or any of these reports or to make a purchase, please contact info@ About BCC Research BCC Research market research reports provide objective, unbiased measurement, and assessment of market opportunities. Our experienced industry analysts' goal is to help you make informed business decisions free of noise and hype. Contact UsCorporate HQ: 50 Milk St. Ste 16, Boston, MA 02109, USAEmail: info@ +1 781-489-7301 For media inquiries, email press@ or visit our media page for access to our market research library. Any data and analysis extracted from this press release must be accompanied by a statement identifying BCC Research LLC as the source and publisher. Logo - View original content to download multimedia: SOURCE BCC Research LLC Sign in to access your portfolio
Boston Globe
17-02-2025
- Health
- Boston Globe
How a rare-disease organization is harnessing the power of parents
Last year, Pamela Gavin became the third chief executive in NORD's history. She has held leading roles in the organization since 2012, and her involvement was inspired by her nephew, who died of a rare disease. Gavin recently spoke with me about the organization's goals. Here are highlights of our conversation, edited and condensed for clarity. Get Starting Point A guide through the most important stories of the morning, delivered Monday through Friday. Enter Email Sign Up Freyer: I'd like to begin with where it all started for you, which was your nephew, Trevor. Tell me about him. Gavin: Trevor was the firstborn of my brother and the first grandchild of my parents, and we were all super excited about his arrival in 1991. He seemed to be fine when he was first born, but then he had infantile glaucoma, and he had surgery for it. And we thought, OK, this is the problem. We got it fixed. Then shortly thereafter, he wasn't progressing like most children. He was scooting instead of walking and not really talking. They thought it was cerebral palsy, and they fit him with braces for his legs. And as he continued to decline, a Boston Children's Hospital neurologist diagnosed him as having metachromatic leukodystrophy, or MLD, a genetic disorder in which the myelin sheaths that protect the nerves become damaged. He lived to be 9 years old — he outlived what most people expected. And he passed away without my brother or sister-in-law, or any of us, ever meeting another family with MLD. Advertisement Would that sort of isolation happen today? Now it's incredibly different. In an instant, you could find out information about a condition. The power of technological advances has really benefited the rare disease community. If you wanted to search MLD right now, you could learn about the disease, the organizations that support it, the institutions that care for people with it. Gavin and her nephew Trevor, who was diagnosed with MLD at age 2. From NORD Is there more hope for kids who are born today with MLD? I can't believe I'm able to say this to you, but last year the Now, the key is, can people get access to the medication? And can they get timely access to it? It's very expensive [a I was on the phone two weeks ago with a physician in Minnesota. She sees MLD patients, and she said, 'It just kills me. When I get a family we get them diagnosed quickly enough, and we can't get the insurance to cover therapy.' It doesn't end with just the research or just getting the product approved. What other progress is being made in finding treatments for rare illnesses? We have about 800 or 900 therapies that have been approved for orphan indications through the FDA since the passage of the Orphan Drug Act. [The 1983 law provides financial incentives for drug companies to develop treatments for rare diseases.] Advertisement Because of the scientific and technical advancements, we're discovering therapies at a faster pace. But the smaller the patient population, the harder it is to develop typical placebo-controlled randomized clinical trials. And even with the Why should people care about illnesses that affect relatively few? People think: rare disease, small population, small group of individuals, not a big problem. In reality it's absolutely the opposite. There are over 10,000 rare diseases that we know about, [affecting] collectively 30 million Americans. That could be your neighbor. That could be your family member. They could happen to you in your lifetime. It's a big public health issue. How does NORD help? There are incredible clinicians around this country, but many of them are operating somewhat in isolation. We've created a network of rare disease centers of expertise to help create the glue that binds this fragmented health care system so that we better serve rare disease patients. We support patient advocacy groups. These groups bring patients together, and they start to accumulate data on their own community. It helps with recruitment into studies. Researchers learn about the condition through engagement directly with patients and families. And it's so much easier for biotech companies, especially if they're small, to say 'this is worth investing in.' Patient organizations are also developing research portfolios and investing in therapies for their [particular] disease. These nonprofit corporations are looking to do good and do not have to meet targets for shareholder returns. Advertisement I've seen people in these organizations do amazing things. They create great partnerships with medical and research experts, and then they've got the nucleus of something that could really lead to progress. As an organization, we try to make that easier for these patient groups, rather than having them all do their thing in siloed ways, where they're all learning individually. NORD has also created an online patient registry, IAMRARE. What is your goal for that? That program was inspired by my nephew Trevor. He lived longer than he was supposed to. The data about him, and how his disease progressed over time, got locked in the laptops [of his caregivers]. That data really could have helped researchers understand MLD better. This is happening everywhere. How do we capture this information, the golden nuggets that people don't know about that patients and caregivers can uniquely contribute? To answer that, we launched Even if a patient organization isn't ready to engage in research, it's never too early to start a study that follows a group of people over time, to better understand what's going on with the disease, understanding and accumulating information on people's preferences. What kind of risk are you willing to take? What are the real challenges that you'd like the researchers to target versus the ones that they may come up with on their own? Advertisement NORD is using this platform for the Gavin at NORD's annual Living Rare, Living Stronger Patient Forum event. john halpern Your brother and sister-in-law endured quite an odyssey trying to find out what was wrong with Trevor, and that's not unusual even today. Why is diagnosis so difficult? A lot of these conditions are heterogeneous, meaning that they share some symptoms with common conditions. Epileptic seizures are common to a lot of conditions. That doesn't narrow it down very much. There are over 10,000 rare conditions and not every primary care physician, or even specialist, can be an expert. That's why it can take five to seven years to get a diagnosis. And then there are conditions for which we don't have an answer yet. You could get genetic testing and still have inconclusive results. People think genetic tests answer all your questions. They don't. Often some of these tests come back to say, there's a 'variance of unknown significance.' Can AI help with diagnosis? Yes. The challenge with AI and rare disease — AI relies on data sets and the development of algorithms. If you're dealing with smaller populations, you don't have as big a data set to work with. But there are areas where it's certainly helping, such as very quickly reviewing large data sets to look for patterns. AI is also being used to evaluate drugs or products that have been tested and shown to be safe but weren't effective for their targets. Maybe they could be effective for rare conditions? How can we repurpose that work? You're from Boston originally and live on Cape Cod now. How have institutions in Massachusetts contributed to research and solutions of rare diseases? We have some amazing institutions in Massachusetts. We're so fortunate. Two of them are part of our centers of excellence, but there is rare disease expertise across the institutions. Boston Children's and Massachusetts General Hospital are the representatives from the Harvard system that are part of our Other institutions within Massachusetts also have expertise. Boston Medical Center has an There's just amazing talented people that you'd want any of your family members or loved ones to go see when they're in need of care. Gavin (at left) with Robert Califf, then-FDA commissioner, and Meena Seshamani, then-director of the Center for Medicare, at a NORD summit in Washington, D.C., in 2024. John Halpern What are you watching for in the new Trump administration? In the first Trump administration, they cut the tax credit for research and development under the Orphan Drug Act from 50 percent to 25 percent, at a time when other corporate tax credits were increased. That was disappointing for us, especially for small biotech companies that perhaps aren't going to get the corporate tax benefit, but certainly would benefit from the R&D tax credit if they were pursuing innovative therapies for rare disease. We don't want the 25 percent to be cut down further as a means to help pay for other corporate tax breaks. We hope to see the telehealth waiver extended. [The waiver makes it easier for providers to meet with patients remotely and is due to expire in March.] That's really important for rare disease, because often you don't happen to live near the expert on your condition. As we move forward, we're concerned about any challenges to Medicaid. A lot of children with rare diseases are covered under Medicaid. Any barriers to access to Medicaid, any cuts in Medicaid services, will have an impact on rare disease patients and families. As you look to the future, what worries you and what gives you hope? What worries me more than anything is the fragility of our society. Some of the things that were bedrock institutional norms are being questioned, or may go away. The rare disease community is concerned about getting lost in all of what's going on in the world. What gives me hope is the dedication and resilience of the human spirit and the rare disease community. If we stay focused on how to best leverage our resources and our passion for positive change, we can accomplish some pretty amazing things. EVENT: On February 25, hear more from Pamela Gavin at the Globe' s Rare Disease Summit 2025, where she will have a fireside chat with health and medical editor Anna Kuchment. The event, both in person and virtual, will feature other people from the rare disease community, industry leaders, and advocates. For more information and to register, visit Felice J. Freyer can be reached at
