Marc Berger’s Post

Last night, was one of those nights where I did something I rarely do. I watched a "soapy" just to switch off from my work day. Which one? Grey's Anatomy. I don't think I've ever seen a full episode of this before and it was pretty torrid but what I found interesting was that one of patients in this episode had cystic fibrosis. He was very pragmatic and said that he had lived a lot longer than anyone expected him to, so he felt lucky he'd made it to 26 years old. Any my brain went - wait! What??? That's not right..... And then I realised, this episode first aired in 2005 when the median survival for CF patients was less than 30 years. It would be another 7 years before Vertex' first product, Kalydeco, would be approved by the FDA and a few months later, in 2013, I would submit this registration application to the TGA in Australia. The median survival for cystic fibrosis patients has now almost doubled thanks to new treatments for this disease. We are all very focused on finding the next drug target, starting the next clinical trial, submitting the next registration application, and rightly so. But sometimes, it's good to reflect on how far we've come in the orphan drug space in recent years and the impact this has had on patients and their families and friends. Next week I'll be attending the ARCS Conference in Sydney and will be part of the new BioBeacon sessions. Companies will be presenting on their new products in development and panels of experts will provide opinions on some of the pitfalls they may face, questions to ask etc. I very much look forward to being a member of this panel and hearing about what may come to market, from the Australian biotech ecosystem, in another 10-20 years time. #ARCS #biotech #innovation Adjutor Healthcare Group

On #LimbGirdleAwarenessDay, we’re proud to announce the launch of C-Path’s new task force dedicated to advancing drug development for limb-girdle muscular dystrophies. Under the Rare Disease Cures Accelerator-Data and Analytics Platform, this collaborative effort unites experts from leading organizations to tackle the unmet medical needs in the LGMD community. This task force includes pivotal members: ML Bio Solutions (BridgeBio), Coalition to Cure Calpain 3, CURE LGMD2I FOUNDATION, Jain Foundation Inc, LGMD2D Foundation, LGMD2i Research Fund and The Speak Foundation. Together, we’re leveraging patient-level data, shared knowledge, and a neutral platform to expedite therapeutic advancements for those affected by LGMDs. As we work toward accelerating meaningful progress, our commitment remains to ensure patient voices and data drive innovation. Read the full details, here: https://lnkd.in/gFiffMB3 Alexandre Bétourné, PhD, PharmD, PMP Heidi Grabenstatter Douglas Sproule Kat Bryant Knudson Ramona Belfiore-Oshan Rachel DeConti Adora Ndu, PharmD, JD Anna Wade Cybele Gouverneur Jean-Pierre Laurent Jennifer Levy Jessica Evans Kelly Brazzo Laura Rufibach Patrick Moeschen #CPath #LimbGirdleMuscularDystrophy #RareDiseaseResearch #DataCollaboration #DrugDevelopment #DataSharing #RDCADAP #PatientVoice #Collaboration

We are thrilled to share that C-Path has entered into a strategic data-sharing partnership with Vivli, an independent nonprofit dedicated to advancing global clinical trials data sharing. This collaboration marks a significant step forward in breaking silos and making rare disease data more accessible to researchers and stakeholders worldwide. The partnership will see data sets from Biogen, including the phase II PASSPORT trial in progressive supranuclear palsy and two choroideremia datasets, available on both C-Path's Rare Disease Cures Accelerator Data and Analytics Platform and Vivli's Clinical Trials Data Platform. This alignment reinforces our shared commitment to the FAIR principles of data sharing, ensuring that valuable research data is findable, accessible, interoperable, and reusable. “We are thrilled to announce that Vivli, RDCA-DAP®, and Biogen collaborated to integrate a Progressive Supranuclear Palsy clinical trial dataset into both partnering platforms, as well as two datasets in choroideremia, our first data in rare eye disorders,” shared Alexandre Bétourné, PhD, PharmD, PMP, Executive Director for RDCA-DAP at C-Path. Together, we're accelerating the development of treatments for rare diseases by fostering collaboration and data sharing among academic researchers, industry leaders, healthcare organizations, and patient advocacy groups. Julie Wood Janet Krause #CPath #Vivli #DataSharing #RareDiseases #Collaboration #ClinicalTrials #RDCADAP #DrugDevelopment

Very insightful publication on multilevel network meta-regression (ML-NMR) and its potential in health technology assessments. This extension of the standard network meta-analysis framework addresses the challenges of existing indirect treatment methods, allowing for comprehensive treatment comparisons. #HealthTechnologyAssessment #IndirectTreatmentComparison #MetaAnalysis #HEOR

Clinical trials are research studies designed to answer specific questions about interventions, including new treatments. Interested in exploring whether there are any clinical trials related to your genetic test results or diagnosis? You can search for clinical trials here: https://lnkd.in/eJsJN5J #genechat #genetics 

This is a very interesting read: sketches out some ideas for how to make cell and gene therapies more accessible to patients. I.e. cheaper. I certainly learned reading it that the price of a drug does not correspond to how much it costs to produce. However, the cost of taking a drug to FDA approval is still >$1-3 billion and if this is for a rare disease, the cost has to be recouped somehow. One intriguing idea is to make drugs for rare disease available at Phase 1 standards under a "perpetual IND." But who's going to invest? Lots of food for thought.

Wow, what an incredible experience I recently had at the Biotechnology Innovation Organization (BIO) Patient Summit in Washington, D.C.! I am still buzzing with energy from all the extraordinary connections and insights I was blessed to experience during this event. Before the summit, I had one of those “in the hallway” impromptu conversations at another event with John F. Crowley, who happens to now lead BIO, about the importance of storytelling in driving progress for the patient community. This event was a shining example of him putting his beliefs into action—literally at next-level empowering! At the BIO patient summit I had the coolest time participating in a storytelling workshop led by the phenomenal team at @MOTH.org. Their extraordinary tools have taken my storytelling game to new heights, and I am beyond excited to share that I was even a featured storyteller on the main stage! Here are my top 3 takeaways on the power of storytelling in advocacy and how it can help us move mountains in the rare disease community: 1. Connection is Key: Storytelling creates a bridge between patients, advocates, and researchers. It humanizes our experiences and fosters empathy. When we share our stories, we invite others into our journeys, igniting passion and understanding. 2. Driving Change: A compelling narrative can be a powerful catalyst for change. By sharing our challenges and triumphs, we raise awareness and inspire action—pushing policymakers and stakeholders to prioritize our needs and the needs of our loved ones. 3. Building Community: Storytelling cultivates a sense of belonging. It reminds us that we are not alone in our struggles. By sharing our truths, we uplift one another, creating a supportive network that champions hope and resilience. I am so grateful to everyone I met at the summit and to the BIO team for creating such a vibrant space for advocacy and collaboration. Together, we can harness the power of storytelling to transform the rare disease landscape. #BIOPatientSummit #RareEyeDisease #Storytelling #RareDisease #Advocacy #KristinSmedley Curing Retinal Blindness Foundation (CRB1.org)

Day Two of the Inaugural C-Path Global Impact Conference: A Day of Insight and Innovation in Rare Disease Drug Development We’re excited to welcome a distinguished group of leaders guiding Tuesday's presentations and panel discussions at #CGIC24. Day two features transformative sessions that delve into critical aspects of drug development: ▶ From Data to Knowledge ▶ A Potential New Framework to Accelerate Drug Development for Rare Diseases ▶ Lived Experiences in Action: Advocacy Updates Across Rare Diseases ▶ RDCA-DAP Lunch and Learn: RDCA-DAP Program: Innovative Public Private Partnership Approaches for Rare Disease ▶ Identifying and Quantifying Sources of Variability ▶ Refining the Use of Data to Manage Uncertainty ▶ Applying Learnings to New Frontiers These sessions will shape the future of rare disease drug development, and we’re eager to see the impact of the insights shared. Stay tuned for more updates! #CPath #GlobalImpact #DrugDevelopment #RareDiseases #Innovation

𝗥𝗮𝗿𝗲 𝗗𝗶𝘀𝗲𝗮𝘀𝗲𝘀, 𝗥𝗲𝗮𝗹 𝗦𝗼𝗹𝘂𝘁𝗶𝗼𝗻𝘀: 𝗕𝗶𝗼𝗱𝗲𝘃 𝗗𝗲𝗹𝗶𝘃𝗲𝗿𝘀 🚀 At 𝗕𝗶𝗼𝗱𝗲𝘃, we understand that rare disease trials require specialized solutions, and our Services are dedicated to meeting the unique needs of these critical trials. Our rare disease research experience allows us to tackle the challenges of working with smaller, often geographically diverse patient populations. Our team uses innovative recruitment strategies 🎯, streamlined patient pathways, and adaptive trial designs to ensure access and support for these underserved groups. By integrating flexibility and patient-centric approaches, Biodev makes it possible to deliver robust, reliable data even in the most complex trial landscapes. Rare diseases may be rare, but our commitment to them isn’t. At 𝗕𝗶𝗼𝗱𝗲𝘃, we’re here to turn the tough challenges of rare disease trials into breakthroughs that make a difference. #RareDisease #ClinicalTrials #Biodev #Innovation #PatientCentric #ClinicalResearch

Not only is today the "Perfect Date" 😉 It's also 📣 National DNA Day! 📣 Your DNA 🧬 can tell you so much about yourself. From learning about your ancestors and finding long lost relatives 🌎 (like with Ancestry) to determining the likelihood of can smell asparagus-related odor in your urine (👀23andMe) and even your risk factors for cancers. So I thought today would be the perfect day to share this study 🕵♀️: An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk. I have no affiliation with this study but I fully believe that knowledge is power 💪. So go to the link for more information and if you meet the inclusion criteria you should consider participating. https://lnkd.in/g8xRyVdx