Lupus Research Alliance ’s Post

I was honored to deliver a keynote address at the World Orphan Drug Congress USA in Boston yesterday, focused on the opportunity to drive innovation and increase treatment options in rare diseases. Innovation in clinical trial design, evidence generation and evaluation are necessary steps in improving access to therapy for people living with rare diseases. But first, there needs to be alignment across stakeholder groups. If we can collectively agree on the use of evidence generation and interpretation methods, then we can better address the complex challenges in rare diseases, advance new medicines for patients, and ultimately bring better care for rare. #raredisease #orphandrug #WorldOrphanUSA

Our third annual Clinical Hereditary Disease Diagnostics Summit is almost here! 🩺 Hear from industry leaders as they tackle the current state of clinical exome testing for newborn screening and rare and undiagnosed diseases. Topics will include: ☑️ Emerging trends and tech advancements in genetic testing ☑️ Opportunities and challenges in bringing clinical exome testing in-house ☑️ How to integrate genetic testing into clinical practice while considering efficiency, cost and ethics Save your seat today ⬇️

Today, we announced positive interim data from our ongoing Phase 2 trial evaluating the safety and efficacy of our product candidate in people with #ChronicNeutropenia (CN). We also announced that we’ve started screening patients for enrollment into our pivotal Phase 3 trial, the 4WARD study, to evaluate our product candidate in people with congenital, acquired primary autoimmune, or idiopathic CN.   We’re hosting a webinar today at 8:00 am ET and will detail the interim results, feature clinical experts in the treatment of CN, and discuss the 4WARD study.   Learn more here: https://lnkd.in/eaDtEtT6 #Progress4Patients 

📢 Important update on our PMD-OPTION study in Primary Mitochondrial Disease #PMD! ⬇ We have completed enrollment of our Phase 2 PMD-OPTION clinical study in PMD and are on track to have top-line data available mid-2025. Initial data analysis confirms the strong safety profile and very good tolerability of OMT-28 in the target population. Furthermore, the clinical data obtained so far looks promising for relevant endpoints, which bodes well for our goal to provide a much-needed new treatment option for patients underserved by current therapies. Want to learn more? Meet OMEICOS during the upcoming #BIOEurope Partnering Conference in #Stockholm, November 4-6th. #mitochondrialdisease #mitoawareness #mitochondrialresearch

September is Pulmonary Fibrosis Awareness Month and I have been thinking about the privilege I have to work with PureTech Health and support a mission to develop a novel drug for idiopathic pulmonary fibrosis (IPF) that is well tolerated. IPF is a terminal disease with a death rate similar to many cancers, yet studies show only 25% of people living with IPF are on treatment that slows down lung damage and improves survival. However, new medications in development are not going to remove all of the barriers people face in order to receive the care that is right for them. Patient advocacy groups play a critical role in ensuring that people living with pulmonary fibrosis are educated about their disease, understand what to expect from medical care, share tips to manage side effects of medications, raise awareness about clinical trials, and provide a space for caregivers to receive needed support. There are some fantastic local and national pulmonary fibrosis advocacy organizations that do important work (such as Pulmonary Fibrosis Foundation and PF Warriors) and this is a great time to give our support.    #PulmonaryFibrosisAwarenessMonth #PFAM #PatientAdvocacy #GivingLifeToScience

Harmony Biosciences RECONNECT trial is still enrolling! Whether you choose for your son/daughter to participate at a Fragile X clinical study site or via the At Home option, your participation is critical to help complete the RECONNECT trial. You may participate completely from your home with our At Home option or if you choose to participate at a study site, travel and travel-related expenses (such as parking and meals) will be of no cost to you. RECONNECT is evaluating an investigational medicine in the treatment of behavioral symptoms of Fragile X syndrome. If the data are positive, it may lead to the approval of the first medicine specifically for the treatment of behavioral symptoms in Fragile X syndrome. To find out if your son/daughter is eligible to participate, please go to https://hubs.ly/Q02C1yhw0 to fill out a form to be contacted or call 833-680-1155. #fragilex #fragilexsyndrome

📢 Decision-making in weaning adult cardiogenic shock patients from VA #ECMO?? Clinical decision making regarding #ECLS liberation challenging and requires a well-structured weaning approach: to improve and harmonize this complex decision process, here a novel type of survey embedded into a clinical discrete choice modeling experiment. Participate to improve insights into the process of weighing multiple factors in complex weaning decisions. 🖋️ Join this 20-minute survey, approved by EuroELSO Steering Committee. 🔗 https://lnkd.in/d_Ba2ihf

📢 Exciting News Alert! 📢 We're thrilled to announce the publication of our latest article titled "Evaluation of the Effectiveness of Teduglutide Treatment in Patients with Short Bowel Syndrome in Slovakia- Multicenter Real-World Study" in the highly evaluated magazine "Journal of Clinical Medicine"! The effectiveness of medicine in a clinical practice is an important indicator of its real benefits and at the same time it is a frequent concern of health care payers before deciding on reimbursement. This groundbreaking study presents real-world data on teduglutide-treated SBS patients in the Slovak Republic, enabling a comparison of its effects in both adult and pediatric populations.  This research is significant milestone in the management of Short Bowel Syndrome, shedding light💡on the efficacy of teduglutide treatment in real-world scenarios. We're immensely proud of our team's dedication Martina Ondrušová, Martin Suchanský and the collaboration among multiple centers in Slovakia Laura Gombošová, Juraj Krivuš, Jarmila Hornová, Zuzana Havlíčeková, Andrea Fojtová, Barbora Norek, Iveta Valachová, Jana Šprláková, Jakub Gazda. Read the full article here ➡  https://lnkd.in/emhxAzQX #TeduglutideTreatment #ShortBowelSyndrome #RealWorldStudy #MedicalResearch #OpenAccessPublication

CENTOGENE's multiomic data insights support the end-to-end Pharma drug development workflow across all disease areas, especially rare and neurodegenerative. Learn how we support real-world evidence & registries for Fabry Disease with LaTina Green at the FSIG Expert Fabry Conference, and how we accelerate and de-risk clinical trials with Mario D'Alessandro at SCOPE!

Last week, the Alumis team attended the 4th Annual #Lupus Clinical Investigators Network (LuCIN) Community Meeting with Lupus Research Alliance alongside clinical investigators, study coordinators, individuals living with lupus, and industry partners for insightful discussions on critical research initiatives and cutting-edge approaches in lupus treatment. Learn more: https://bit.ly/LuCIN2024 #LupusResearch #LupusAwarenessMonth