Marco Schmidt’s Post

🌍 The Rare Disease Treatment Market: Opportunities Amid Challenges! The rare disease treatment market is set to soar from USD 216.65 billion in 2024 to an impressive USD 380.62 billion by 2029, with a CAGR of 11.93%. 🚀 This growth is driven by increasing rare disease cases, innovative therapies, and government initiatives like the US FDA’s Accelerating Rare Disease Cures (ARC) Program. 🔬 Why is rare disease research so challenging?  With over 6,000 rare diseases affecting more than 300 million people globally and its crucial to recognise that, collectively these conditions are not rare. Research is often slowed by small patient populations, lack of data, and limited funding. Each rare disease presents unique complexities, making clinical trials harder to design, and drug development is often riskier and more expensive. At Biorizon Consulting, we have extensive experience overcoming these barriers. Our team offers deep expertise in preclinical trial design, strategic market analysis, and regulatory navigation, ensuring your research and development programs are designed to succeed in this challenging field. Whether it’s tailored strategies for rare diseases or helping you leverage the latest scientific advancements, we provide the support needed to turn these complexities into actionable insights. Let’s accelerate your rare disease research together—contact Biorizon Consulting  for expert guidance in navigating these hurdles!

🔬🌟 Today marks the rarest day of the year, making it the perfect occasion to raise awareness for Rare Disease Day! There are over 6000 identified rare diseases, and while each disease may affect only a small portion of the population individually, collectively they impact 1 in 17 people worldwide. Unfortunately, many rare diseases often go undiagnosed or have little to no treatment. Therefore, we felt compelled to highlight and celebrate the remarkable efforts of just a few (of the very many) healthcare and life science companies making a difference: 🔍 OGT’s solutions are at the forefront of rare disease research, profiling a range of mutations crucial to solving the puzzle of rare diseases. The company’s NGS, FISH and microarray products are designed for robust identification of the whole range of genomic variation and aim to enable researchers and clinical decision makers to reach the right decisions every time. 👶 Revvity has demonstrated huge commitment to early detection and intervention of rare diseases, with over 800 million babies screened globally using their systems. By facilitating early identification, Revvity's systems play a crucial role in enabling healthcare providers to implement timely interventions, and improve the outcomes and quality of life for countless individuals. 💊 Mereo BioPharma is a clinical-stage biopharmaceutical company focused on the development of innovative therapeutics for rare diseases. With a portfolio covering potential therapies for conditions like Osteogenesis Imperfecta and Alpha-1 Antitrypsin Deficiency-associated lung disease, they are addressing critical needs in these underserved patient populations. From clinical research to screening and therapeutics, these are just some of the many great companies playing a crucial part in advancing our understanding of rare disease, and ultimately enhancing the quality of life for individuals affected by rare diseases. Working together, we can all make a difference!🌟 #RareDiseaseDay #ShareYourColours #Research #Healthcare #RareDiseaseAwareness

🦓 Needle in the Haystack – How We Can Improve Patient Finding for Rare Disease 🦓 🔶 40 years after the US Orphan Drug Act, around 90% of rare diseases still lack treatment, and diagnosis is often slow and cumbersome. 🔶 To improve the process of drug development in rare diseases and bring new treatments to patients, patient-finding strategies are key. 🔶 While one might think that the unmet need of a rare disease automatically drives demand for a new experimental or approved treatment, the reality is often quite different. 🔶 In a recent article in RARE Revolution Magazine, The Healthonauts' Louise von Stechow explored strategies to improve rare disease patient finding: 🦓 Assemble the Puzzle Pieces: Improved disease understanding through comprehensive genetic characterization, clear and holistic symptom descriptions, and patient journey mapping. 🦓 Uncover Hidden Patterns: Innovative methods such as advanced genetic profiling and artificial intelligence to identify rare disease variants and phenotypic matches (for example, based on facial features). 🦓 Learn from the Experts: Integrating patient and caregiver experiences and patient advocacy into patient-finding strategies. 🧡 Read the full article here: https://lnkd.in/e2f9Gkud #raredisease #orphandrugs #drugdevelopment

Ramblings of a Group CEO Good conversations(or challenging ones)lead to great outcomes. Recently I was having a robust discussion via email with pharma CEO about a clinical trial that had collapsed leaving patients compromised and he said that patient organisations should be focused on the critical issues such as surrogate biomarker as acceptable endpoints . The problem was that we were not invited to be part of what was a USA centric discussion. This highlights both the challenges and opportunities. The clinical trial world is global and has to be addressed in such fashion and secondly assumptions can be a dangerous thing and hamper success. After much thought I decided to approach some patient advocate colleagues to work on bringing together a global consortium to address in this case heparan sulphate in the cns as a meaningful biomarker. With much hard work and endeavour on the part of Sophie Thomas,Mark Dant, Kim Angel and Kim Stephens we had our first face to face meeting in Wurzburg Co Chaired by Professor Simon Jones, Professor Joe Muenzer and including some of the best clinical and scientific minds globally. Work has begun on collating and publishing the arguments for why surrogate biomarkers are essential. Treating earlier is key and using this approach backed up by ongoing robust data collection will mean another generation will not be lost to devastating diseases such as MPS. The science is clear and now it is up to the regulatory authorities to have faith and ensure patients have a rare life lived better. This is also an example that even in a challenging conversation there are life changing opportunities. The MPS Society and our partners are changing the world of Rare Diseases one conversation at a time conversation at a time

A novel approach to market expansion in Pharma or a great way to help patients and families ? In rare diseases, delays to diagnosis are often too long, and when the proper diagnosis is made, the extent of the disease and damages it caused are often too significant to see benefits of the limited therapeutic options that exist. Alnylam, which specializes in RNAi drugs that “silence” disease-causing genes, has sent a renowned genealogist on a road trip to speak to families in different U.S. cities about where health fits into their family trees — the epitome of meeting patients, and their genes, where they are. There could be up to 15,000 patients with a history of hereditary transthyretin (hATTR) amyloidosis, too many not even knowing of such. “In rare diseases, it’s not uncommon for diagnosis rates to get to between 30% and 50% [of the target population] so we feel like we’re below that, based on our estimates of what the prevalence is of the disease” . “We’re far below that in the U.S. — this is definitely an area of unmet need and an area where a lot of work is needed to help these patients that potentially may have the disease to be diagnosed.” https://lnkd.in/gjvmNP92

Addressing Assessment and Access Issues for Rare Diseases "According to a report by the ISPOR Rare Disease Special Interest Group, the successful development of new treatments for rare diseases and their sustainable patient access requires overcoming a series of challenges related to research and health technology assessment (HTA). Research-related impediments include disease recognition and diagnosis, evaluation of treatment effect, and patient recruitment for clinical research. The primary challenges for HTA for rare disease therapies include a lack of tailored HTA methods, no established standard of care, insufficient knowledge of the natural history of a disease, lack of validated instruments to assess efficacy and effectiveness endpoints, and the application of Institute for Clinical and Economic Review (ICER) thresholds." https://lnkd.in/dXVHwZ6j

Is it the right diagnosis? I wrote about this a couple of weeks ago. You feel ill, go to the doctor, get examined, take a blood test, and get a diagnosis. Then comes the treatment. It does not work for you, or you experience an adverse reaction. Back to the doctor, “Let’s try something else,” is his or her response. What if the exam process also involved a deep dive to look beyond symptoms, past temporal diagnostic markers and into the probabilities of success across different potential treatments? What if the probability for side effects could be predetermined instead of discovered through trial? This is part of precision medicine. This is where immunoproteomics dominates. Jaeyun Sung is an assistant professor at the Mayo clinic who has identified very distinct antibody profiles in patients with Rheumatoid Arthritis using the Sengenics protein microarray. The ramifications are huge, including patient stratification, improved diagnosis, more effective treatment options with fewer adverse events, and unique study groups to develop even better treatments. And while Dr. Sung examined autoimmune diseases, these same benefits can extend to diseases like cancer and Parkinson’s, diseases notoriously difficult to identify where an accurate diagnosis and stratification can make a substantial difference in outcomes for patients. Would you like to learn more? Join Dr. Sung’s Webinar next Tuesday, June 18 at 11AM EST: https://lnkd.in/eChyvaHn

🌟 New paper alert 🌟 Exploring the role of eosinophils in IBD! 🔬 #IBD #Eosinophils Read more: https://lnkd.in/eS3gvh3Y

On #RareDiseaseDay it is important to note that while 5% of the world suffers from a rare disease, only around 5% of these patients have licensed treatments. Drug development in #rarediseases entails additional unique challenges such as small patient numbers, small historical data sets, and often a limited understanding of disease pathomechanisms. To tackle these challenges and drive up drug development in rare diseases many sponsors turn to innovative and advanced trial designs such as #bayesian design. Read our CTO, Elad Berkman, explaining how Bayesian adaptive clinical trial design can improve the sustainability and efficiency of studies and ensure treatments for rare diseases get to patients who need them faster.

Read Elad Berkman’s interesting perspective on how Bayesian design principles using advanced technology can enable a more dynamic assessment of treatment efficacy and safety to accelerate the delivery of new treatments to patients with rare diseases