Critical Path Institute (C-Path)’s Post

This is a game-changer! 🚀 When it comes to the pivotal roles that stakeholders play in rare disease registries, The Champ Foundation is setting the gold standard. They're not just overcoming the typical bottlenecks in drug development that often silo stakeholders into distinct roles. The Champ Foundation is checking all the boxes in their comprehensive approach: ✅ Participants ✅ Advocates ✅ Data Custodians ✅ Sponsors/Developers By embodying these roles, The Champ Foundation is accelerating progress and driving impactful change in the rare disease space. 👏 #RareDisease #DrugDevelopment #PatientAdvocacy #DataSharing #mitochondrialdrugdevelopment #Pearsonsyndrome

🌟 ALS Awareness Month: A Time to Reflect, Support, and Act🌟 As we recognize ALS Awareness Month, it is imperative to bring attention to Amyotrophic Lateral Sclerosis (ALS) and the profound impact it has on individuals and their families. ALS, also known as Lou Gehrig's disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. 🔬 Our Commitment at PDC CRO : we are dedicated to advancing the understanding and treatment of ALS through innovative #research and clinical #trials. Our team is relentlessly pursuing breakthroughs that can lead to effective #therapies and, ultimately, a cure. 💡 Education and Awareness: Knowledge is power. By educating ourselves and others about ALS, we can foster a community of support and drive the urgency for ongoing research and funding. 🤝 Community and Support: We stand in solidarity with those affected by #ALS. It's crucial to create a supportive network where #patients, caregivers, and researchers can connect and share their experiences. Together, we can advocate for better care, more resources, and a brighter future. Let's make a difference this ALS Awareness Month. Together, we can transform hope into reality and bring light to those impacted by this challenging #disease. #ALSAwarenessMonth #EndALS #ResearchForACure #SupportAndHope #ALSResearch #PDCCRO #ClinicalTrials #ClinicalDevelopment

#RareDiseaseMonth | C-Path is proud to announce a significant data sharing agreement with the Hereditary Neuropathy Foundation (HNF), integrating valuable data from the Charcot-Marie-Tooth Research Network into C-Path’s Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP®). “There are over 130 mutations for the various types of CMT/IN. HNF recognized the gap in supporting the neglected or ultra-rare subtypes of CMT/IN and took a bold step to create a robust natural history study to identify the unique phenotypes associated with each subtype where there were major gaps of information,” said Joy Aldrich, HNF’s Registry Coordinator. “The collaboration with HNF and the incorporation of the CMTRN data into RDCA-DAP is a transformative step in our mission to tackle rare neurological disorders,” said Alexandre Bétourné, PhD, PharmD, PMP, Executive Director for RDCA-DAP at C-Path. “This partnership broadens the scope of our portfolio and also facilitates an optimized understanding of complex conditions like inherited neuropathies. It’s a leap forward in our journey to accelerate the development of innovative treatment approaches, offering a beacon of hope for individuals and families affected by these conditions.” Full details: https://lnkd.in/dYTxANWJ #CPath #RareDiseaseMonth #RareDiseaseDay #FamilieSCN2A #globalhealth #drugdevelopment #datasharing #collaboration

𝐖𝐨𝐫𝐥𝐝 𝐃𝐨𝐰𝐧 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞 𝐃𝐚𝐲, marked annually on March 21, is devoted to raising public awareness and advocating for the rights and well-being of people with the condition. Estimating the global population of individuals with Down Syndrome is challenging due to varying factors, including diagnostic rates and healthcare access. However, some estimates suggest that the worldwide population of people with Down Syndrome may exceed 𝟔 𝐦𝐢𝐥𝐥𝐢𝐨𝐧. 𝟐𝟎𝟐𝟒 𝐓𝐡𝐞𝐦𝐞: ‘𝐖𝐞 𝐃𝐞𝐜𝐢𝐝𝐞’ - This year’s theme is a call to action for communities and policymakers to facilitate environments where those affected can make informed choices about their lives with full participation in society. This day was first observed in 2006, with the United Nations officially recognizing it in 2012. Since then, it has served as a platform for advocacy, education, and support. Recent advancements have spotlighted the potential role of immunoglobulin therapy, particularly intravenous immunoglobulin (IVIG), in treating Down Syndrome, specifically focusing on Down Syndrome Regression Disorder (DSRD). A notable study conducted by Children’s Hospital Los Angeles (CHLA) observed significant improvements in over 𝟖𝟎% of the more than 𝟏𝟐𝟎 patients treated with IVIG for DSRD. While more research is ongoing, early findings suggest immunoglobulin therapy could offer significant benefits. This World Down Syndrome Day, get deeper insights into the global immunoglobulin market via our report summary: https://lnkd.in/dutw_X8w . . . Biotest AG Grifols LFB GROUP CSL #worlddownsyndromeday #downsyndrome #immunoglobulin #healthcare #diagnostic #biotechnology #publicawareness #marketinsights #tritonmarketresearch

Travel time to academic settings can contribute to inequalities due to age, geography, and ethnicity in Alzheimer's disease clinical trial enrollment. We are excited to share that Noor Sachdev M.D. and Perminder Bhatia, M.D., two community physicians in the Adaptive Research network, are investigators in AriBio’s Phase 3, Double-blind, Randomized, Placebo-controlled Trial to Evaluate the Efficacy and Safety of AR1001 in Participants With Early Alzheimer's Disease (POLARIS-AD). #clinicaltrials #clinicalresearch

🚨 Urgent Update: Opposing the Consolidation of NEI 🚨 The LHHS bill released this morning raises significant concerns, including the consolidation of the National Eye Institute (NEI) into a broader Neuroscience and Brain Institute as recommended by the recent Energy and Commerce Committee report. https://bit.ly/3VXIOON While the Senate and Biden Administration are unlikely to pursue these recommendations, the inclusion in official bill text requires a response. We strongly oppose the consolidation of NEI into this broader Neuroscience and Brain Institute and recognize the crucial mission of NEI to advance vision research for the prevention, diagnosis, treatment, and cure of all eye diseases. Consolidation threatens to dilute this focus and impede critical research progress. In partnership with our many members and coalition partners, we're mobilizing a robust response to this proposal. It is vital that we ensure the NEI remains a dedicated Institute focused on advancing vision research. This proactive approach aims to protect vision research from potential risks, regardless of future political shifts. Join us in protecting the future of vision research. Stay tuned for further updates and learn how you can support our instrumental advocacy efforts.

With the population’s chances of good healthcare and their needs varying, how do we place a greater focus on equity in improvement research?     We welcome the new fellowship cohort whose projects address different aspects of equity and improvement. From how well NHS staff with chronic illnesses and disability are supported, understanding Black women’s experiences of prenatal genetic testing, to studying how people in deprived areas receive prevention advice.     Learn about the range of perspectives and research expertise our new fellows bring and how they are tackling important uncertainties in what works to reduce inequities in healthcare.    Learn about our fellows’ research in our new story: https://ths.im/4aoZ5QV

NOT-AG-24-013: Request for Information (RFI) on Data Management, Sharing, and Secondary Data Use Challenges and Opportunities - May 31, 2024 Deadline! https://buff.ly/3w1iZDv NIA seeks public input on challenges, opportunities, and use-cases related to data management, sharing, and secondary use of scientific data related to Aging and Alzheimer's disease (AD) and AD-related dementias (ADRD) research, needs of investigators supported through the NIA, and strategies that can be capitalized upon to address these needs.

If you are someone who wants to make a difference for yourself and others battling rare diseases, then you may want to consider joining Rare Patient Voice. This organisation connects patients with researchers who are working tirelessly to improve medical products and services. Your experience and opinions can be very valuable. As a member of Rare Patient Voice, you may be invited to participate in surveys, interviews, or online communities where you can share your insights and experiences. Your feedback can earn you up to $120 (USD) per hour. You have the power to make a difference not only for yourself but also for others who are dealing with the same condition. If you want to learn more about Rare Patient Voice, please follow this link: https://buff.ly/40gxvRa Rest assured that your input will be put to good use to help others like you. #NCBRS #NCBRSRare #RarePatientVoice #VoiceOpinion 🧡💚💙 Gene People RARE DISEASES INTERNATIONAL RARE Revolution Magazine Healthinote FaceMatch Sanford Research Genetic Alliance UK Beacon for Rare Diseases Patient Worthy Global Genes Dazzle4Rare

Check our our latest paper on a model for undiagnosed atrial fibrillation to improve its generalizability! We validated the model created originally on a national dataset, did analyses of variables for bias and streamlined accordingly and then revalidated. This highlights the need to make validation across data sets, bias identification, assessment and mitigation a part of model development in general to improve generalizability. Mohammad Ateya, PharmD, MS, FAMIA Danai Aristeridou George Sands Carmine Colavecchia, PharmD, PhD Randall Grout Oussama Wazni Jessica Zielinski