Sobi - Swedish Orphan Biovitrum AB (publ)’s Post

On the most rare day and also the International #RareDiseaseDay 🦓 , I got curious (of course!) to see which are among the ultra-rare diseases, and checked #TrialHub to see how many trials with each, in which countries and are there any #recruiting #treatment #trials as of today 🤔 Here is my shortlist (let me know if you'd like to see the long one 📩): 🦓 Fibrodysplasia Ossificans Progressiva (Progeria) > about 1 in 20M > overall 10 trials (USA, FR, CN) > as of today 1 active not recruiting treatment trial 🦓 Lesch-Nyhan Syndrome > affects about 1 in 380K > overall 7 trials (USA, ES, DE, IT) > as of today 1 recruiting treatment trial 🦓 Harlequin Ichthyosis > affects about 1 in 300K > overall 32 trials (USA, CA, FR, AU, FR, DE, ES, DE, IT, NL, SE, BE, NO, RU, UA, IL, DO) > as of today 2 recruiting treatment trials 🦓 Alkaptonuria > affects about 1 in 250K > overall 11 trials (USA, UK, IT, NL, SK) > as of today 0 recruiting treatment trials 🦓 Erdheim-Chester disease > affects about 1 in 100K > overall 22 trials (USA, CA, UK, NL, DE, IL, BR, EG, IN, LK) > as of today 3 recruiting treatment trials #rarediseaseday2024 #OrphanDrugs #PersonalizedMedicine #ClinicalTrials #NGS #HealthcareInnovation #PatientAdvocacy #DrugDevelopment #TrialHub #FightRareDiseases

Rare diseases, which impact over 400 million worldwide, pose challenges such as diagnosis delays and lack of treatment options. Dr. Harsha K Rajasimha, our CEO & Founder and a rare disease advocate, discusses initiatives like the Organization for Rare Diseases India (ORDI) and the Indo-US Organization for Rare Diseases (IndoUSrare) in an insightful interview with The Company of Biologists titled 'Cross-border rare disease advocacy: Preethi Krishnaraj interviews Harsha Rajasimha.' He emphasizes, "By engaging with patient advocacy groups, researchers can bridge the gap between scientific innovation and the real-world needs of patients." Jeeva Clinical Trials Inc. featured in the interview, aims to democratize clinical trials with a digital platform, simplifying remote access for patients and accelerating drug development timelines. Read more here: https://hubs.la/Q02mwRb20 #RareDiseases #PatientAdvocacy #CrossBorderHealthcare #HealthEquity #MedicalInnovation #ClinicalTrials #RareDiseaseResearch

Rheumatoid Arthritis guidelines recommend a baseline Clinical Disease Activity Index (CDAI) or other standardized method prior to initiating treatment and periodically to check for efficacy. In this study, less than 45% of those participating practices reported performing one. Additionally, of those patients discontinuing a TNF inhibitor, 15% were restarted with the exact medication and approximately 46% were given another TNF inhibitor even though they d/c'd due to lack of efficacy or SE. While comorbidities, cost, and other issues may have accounted for these reasons, this is an important issue to address and research further. #rheumatoidarthritis #rheumatology #treatment #ra #advocacy #advocate https://lnkd.in/dUa8jW5P

On this 𝗥𝗵𝗲𝘂𝗺𝗮𝘁𝗼𝗶𝗱 𝗔𝗿𝘁𝗵𝗿𝗶𝘁𝗶𝘀 𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀 𝗗𝗮𝘆, let's pledge together to raise awareness about Rheumatoid Arthritis, and let's advocate for better treatment, support, and understanding for those affected by this chronic condition. 🎗️ . . #RheumatoidArthritisAwarenessDay #RheumatoidArthritis #RAAwareness #RAawarenessDay #2ndFebruary #RheumatoidArthritis #rheumatoidarthritiswarrior #healthiswealth #awareness

Excellent review of RA, covering risk, diagnosis, treatment, unmet needs and the 'holy grail' of prevention Further reading https://lnkd.in/eGRdN-Zs Thanks to Drs Schubach, Gravallese and NEJM #rheumatoidarthritis

Root Cause of Juvenile Rheumatoid Arthritis https://lnkd.in/g929rn9z Find ArthritiCare at Amazon https://lnkd.in/gRxZBR2n #JuvenileArthritis #JuvenileArthritisawarness #JuvenileArthritiswarrior #JuvenileArthritisresearch #JuvenileArthritiscanada #juvenileidiopathicarthritis #Juvenileidiopathicarthritis

measures the level of a substance called rheumatoid factor (RF) in your blood. It helps your healthcare provider determine if you have rheumatoid arthritis #bloodtest #international #asiagulf #besic fundamentals of hospital 🏥 used tech.

Lymphatic Filariasis (LF) is one of the world’s 20 #NeglectedTropicalDiseases that is caused by a #pathogen - the filarial worm - and is spread by #mosquitos.   Endemic to tropical areas, the disease can sometimes go undetected for years, but eventually it results in a range of debilitating and socially ostracizing symptoms.  In #India, LF is endemic to 20 states and union territories.     For many years now, the country has been tackling LF prevalence by implementing the internationally prescribed best practice of Mass Drug Administration.     Typically, this has involved focusing on the distribution of a prescribed regimen of preventive drugs to eligible population in affected districts. The consumption of these preventive drugs over a few years can help protect people from ever contracting this debilitating disease. However, many factors, including the lack of information about the drugs’ safety and its role in protecting communities from the effects of the disease have come in the way of effective coverage.    2023 marks a crucial pivot: districts are no longer the implementation unit for Mass Drug Administration. A smaller and administratively more manageable unit has taken its place: the block.    This shift has led to several positive outcomes: up-to-date data is making it possible to identify which areas actually need Mass Drug Administration. Frontline #health workers are now being sent only to those areas where the disease is still endemic, saving time and resources. With more blocks emerging as success stories, there is greater incentivization for better coverage and improved outcomes among those blocks still dealing with LF’s prevalence.    As India works towards eliminating Lymphatic Filariasis by 2027, read more about what it has taken for the country to come this far in the latest issue of #Aksha, written by our country lead for #NTDs, Dr Bhupendra Tripathi. https://2ly.link/1vNRA

I love working with clients on rare disease research. One of the most recent projects I had a chance to manage was for a pharma manufacturer who was working on a subtype of a rare disease. One of the primary hurdles in diagnosing the disease was its rarity and lack of awareness among HCPs. Not only was the disease uncommon, there were a number of doctors who might see the patient and there was a high incidence of misdiagnosis leading to treatment delays. The presenting symptoms often mimic other, more prevalent disorders and there are no approved tests that can confirm the presence of this disease. Understanding the patient journey was a giant puzzle. I designed a global survey for HCP's to help uncover some of the miscommunications on the pathway. Through data, my team was able to pinpoint the exact specialties that were most likely to misdiagnose, uncovering a pivotal educational opportunity. The pharma team was then able to calculate the costs of the treatment delay and give real value to the conversation. Rare disease research can be difficult, but being able to support those initiatives is one of the most rewarding aspects of my career. #rarediseaseday

Join Parexel in our dedication to making an impact for rare disease patients. Complex patient and disease profiles lead to challenging clinical development plans requiring customized approaches. Your expertise will make these trials possible, by embarking on a new era of rare disease and pediatric drug development, like precision medicine concepts, protecting the endpoints, and embedding patient insights. Rare disease requires out-of-the-box, creative thinking. Explore more about our experience in conducting rare disease clinical trials and discover how some of our employees have been impacted by their work in this important area. #RareDiseaseDay #RareDiseaseAwareness #ClinicalResearch