FRAXA Research Foundation的动态

Smouldering-associated worsening or SAW: the next therapeutic challenge in managing multiple sclerosis. To download the article, please click here => https://buff.ly/3B1KZtd

The present study aimed at measuring the prevalence of DCPR syndromes in different clinical settings?(i.e., FM, IBS, Migraine, CHD, and T2D)?and exploring factors associated?to such?diagnoses. Read more at the following link:?https://lnkd.in/dNx2BVdG

On #WorldHemophiliaDay, let's support and empower individuals living with hemophilia and other bleeding disorders. ? We are glad that clinical trials are essential for advancing hemophilia research, developing innovative treatments, and improving outcomes for individuals facing this rare condition. #Hemophilia #BleedingDisorders #ClinicalTrials

IgG4-RD is a rare multiorgan immune-mediated disorder with no approved therapy. A team led by Mass General Brigham researchers found a new treatment reduces symptoms by 87%. Learn more about this groundbreaking research: https://spklr.io/6045xcl7

?? Join us for the 6th European GRIN Conference organized by Grin Europe, bringing together families, researchers, and clinicians to discuss the latest advancements in understanding and treating GRIN/GRIA disorders. Don't miss ASPHALION expert Christopher Mann's valuable insights on the regulatory landscape for rare diseases. Highlights include a workshop, scientific talks on treatments and clinical trials, and discussions on complex symptoms and future research. Register now at www.grinconferences.org and contact [email protected] for more information. #GRINConference #RareDisease #ClinicalTrials #TranslationalResearch #PatientCare #ScientificBreakthroughs #RegulatoryAffairs

Glanzmann Thrombasthenia (GT) is a rare and severe platelet disorder that causes frequent and intense bleeding episodes. In a groundbreaking effort, Haemnet conducted the most comprehensive mixed-methods study to date involving?117 participants to assess not only clinical symptoms, but also psychological impacts. With participants reporting an average of 3 bleeds in the past week alone, this study underscores the profound, ongoing challenges faced by those affected by GT. Thanks to the invaluable insights shared by participants, this dataset stands as a robust resource that highlights critical unmet needs within the GT community.?As part of our dedication to amplifying patient voices, follow along this week as we share key statistics and findings from the Glanzmann’s 360 study. Dive in here: https://lnkd.in/eNumsur4

In their NCCIH lab, Dr. Alex Chesler and his team are probing the ways in which our brains detect and process different sensations, including both pleasant and painful ones. Improving knowledge of these basic mechanisms may help researchers develop new therapeutic approaches for treating acute and chronic pain. https://go.nih.gov/pWEwQG7?#NIHPainProgress #PainAwarenessMonth

Today is World Parkinson's Day. We want to show our solidarity with the Parkinson’s community, acknowledging the courage and resilience of those affected by Parkinson's Disease (PD). We understand their struggles but also want to celebrate the advancements made toward understanding the condition and finding better treatments. We are proud to share we have supported numerous early clinical studies and are currently participating in a Phase 2b study evaluating the efficacy and safety of a groundbreaking new drug, with special attention and care for the PD trial participants. This compound represents another opportunity to improve the management of PD symptoms, but more so the opportunity to change lives. At Astrum we are committed to help push the boundaries of research and innovation, to bring us closer to more effective treatments. We believe that through collaboration, dedication, and the invaluable participation of our patients, we can make a difference in the fight against Parkinson’s Disease. #ParkinsonsWorldDay?#ClinicalTrials?#ParkinsonsResearch

You only have three days left to register for ESID Grand Rounds 25: NFKB disorders! Don't miss out on this insightful session delving into mutations in NFKB1, NFKB2, and other components of the NF-KB signaling network. ?? Join us on April 22nd, 2024, at 16:00 CEST, as we explore the wide spectrum of clinical presentations, treatment approaches, and management strategies for patients with defects in NF-KB signaling. Register now and gain valuable insights from our esteemed panel of experts: https://bit.ly/4aLdKXf #ESIDGrandRounds #NFKBDisorders #MedicalResearch

In observance of #ALSAwarenessMonth, did you know that someone is diagnosed with ALS every 90 minutes? Our commitment lies in the pursuit of a safe and effective treatment for ALS. This dedication drives our efforts to advance our novel therapy, CVN293, which aims at slowing neurodegeneration. Learn more here: https://bit.ly/4afoFbI