National Organization for Rare Disorders’ Post

For #RareDiseaseDay2024, here's a round-up of the latest breakthroughs in the treatment of rare disease from Drug Discovery World. #rarediseaseday #raredisease #drugdiscovery https://lnkd.in/exgtVJFz

Yesterday, the FDA announced plans to launch a Rare Disease Innovation Hub that will utilise new and collaborative approaches to expedite the development and approval of safe and effective drugs and biologics that treat rare diseases. One out of every 10 people in the US are affected by a rare disease and around half of these people are children. Many rare conditions are life-threatening, and most do not have approved treatments. The new Hub will work across rare diseases with a focus on products intended for smaller populations or for diseases where the natural history is variable and not fully understood. It will serve as a single point of connection and engagement with the rare disease community; enhance agency collaboration to address common scientific, clinical and policy issues related to rare disease product development; and advance regulatory science. Having supported organisations across the globe with the development of medicines for rare diseases, Boyds warmly welcomes this promising initiative which ultimately aims to improve outcomes for people living with rare diseases by providing new therapeutic options. Find out more: https://lnkd.in/egJKYwvs #rarediseases #fda #innovationhub #medicine

🇺🇸The FDA is launching a Rare Disease Innovation Hub to enhance the development and approval of treatments for rare diseases. Connecting with patient communities, fostering intercenter collaboration, and advancing regulatory science will be the focus. This initiative co-led by the directors of CDER and CBER is expected to significantly improve outcomes for patients with rare diseases by streamlining the development of new therapies and leveraging cross-agency expertise and existing programs. 🇬🇧 The Medicines and Healthcare products Regulatory Agency (MHRA) has initiatives similar to the FDA's Rare Disease Innovation Hub. One notable initiative is the Rare Therapies Launch Pad (RTLP) announced in the UK’s 2023 Autumn Statement. This program aims to develop a new pathway for the development and access to novel medicines, particularly targeting children with rare and life-threatening conditions. It involves collaboration among Genomics England, the MHRA, Oxford-Harrington Rare Disease Centre, the Association of the British Pharmaceutical Industry (ABPI), and Mila’s Miracle Foundation. Additionally, the UK government has established the Rare Diseases Action Plan, which aligns with the UK Rare Diseases Framework. This plan focuses on improving diagnosis, increasing awareness among healthcare professionals, coordinating care, and enhancing access to specialist treatments. It includes actions like enhancing genomic testing communication, implementing networked models of care, and addressing health inequalities for those with rare conditions. However, the continuity of the UK's Rare Disease Action Plan is a topic of concern with the new Labour government which has not specifically mentioned rare diseases in their manifesto but have committed to advancing health innovation, such as genomics, which is crucial for rare disease diagnostics and treatments.

The collaboration between Gilead and CymaBay to acquire Seladelpar marks a significant move in the field of liver disease treatment, particularly for PBC patients. Seladelpar's potential to address unmet medical needs in this area, coupled with Gilead's expertise in drug development and commercialization, sets a promising stage for advancing therapeutic options. This strategic partnership underscores the commitment of both companies to innovation and improving patient outcomes in liver-related conditions. Any thoughts? 🤔 #BiotechJobs #PharmaRecruitment #QualityAssurance #LifeSciences #HealthcareRecruitment #BiotechCareers

At the NORD Breakthrough Summit and Orphan Drug Congress, we saw FDA Commissioner Dr. Robert Califf reaffirm the FDA's commitment to advancing rare disease innovation. This July, the agency unveiled the Rare Disease Innovation HUB to boost drug development and approval for rare disease therapies. The FDA stated: "While there have been important advances in treatments for rare diseases, more needs to be done. Many rare diseases lack treatment options and therefore many patients have high unmet medical needs. This requires new approaches to expedite development and approval of safe and effective drugs and biologics." The Mercalis Rare Disease Team applauds this commitment to innovation and will continue our mission to support these amazing rare disease patients and their families. For more information on this groundbreaking advancement, visit: https://lnkd.in/eHzY99NZ. #RareDisease #Innovation #FDA #PatientCare #Healthcare #MercalisTeam

An estimated 10,000+ rare diseases affect more than 30 million people – approximately one out of every 10 people – in the U.S., and about half of these people are children. Many rare conditions are life threatening, and most do not have approved treatments.    The FDA plans to establish a Rare Disease Innovation Hub (the Hub). The Hub will work across rare diseases but will especially focus on products intended for smaller populations or for diseases where the natural history is variable and not fully understood, since the development of therapies for these conditions can be particularly challenging.   Learn more about the Hub’s three primary functions from the FDA’s Patrizia Cavazzoni, MD, Director, Center for Drug Evaluation and Research and Peter Marks, MD, PhD, Director, Center for Biologics Evaluation and Research (CBER).   https://bit.ly/3WTK0TO | #RareDiseases #ClinicalResearch #DrugDevelopement #ClinicalTrials Answers Media Network

Congratulations to Dr. Richard Novak, cofounder and CEO of Unravel Biosciences, and 2024 Termeer Scholar. Under his leadership, Unravel Biosciences has just received FDA Orphan Drug Designation for Vorinostat (RVL-001), targeting the rare neurogenetic disorder, Rett Syndrome. This milestone is a testament to the innovative spirit and relentless pursuit of patient-centric solutions that define our Fellows. Richard's work, from rapid drug prototyping to initiating global clinical trials, exemplifies the type of transformative leadership that the Termeer Foundation aims to foster. His efforts not only advance medical science but also embody our mission to empower healthcare innovators to bring new treatments to those in dire need. Join us in supporting leaders like Richard, who are not just creating change but are dedicated to making a meaningful difference in the lives of patients worldwide. #biotech #biotechnology #leadership #STEM #TermeerFoundation #Healthcareinnovation #raredisease #patientcare #lifescience #peopleempoweringcures #connectionsempoweringcures #leadershipmatters #healthcare #mentorship #science #mentor #leader #ceo #termeerfellows

In my new article, I talk about the incredible potential of a unique new drug, SPG302, developed by Spinogenix, Inc., for treating amyotrophic lateral sclerosis (ALS) and how the FDA has approved it for ongoing clinical trials. The drug regenerates the synapses damaged by the fatal disease. In Phase 1 trials conducted in Australia, the drug has proven safe and is now being trialled in people with ALS. It could be a watershed moment in ALS treatment. #ALS #synapse #smallmolecule https://lnkd.in/gbJhSmbx

We're fast approaching an important workshop aimed at enhancing the understanding of primary disease activity biomarkers using heparan sulfate in neuronopathic mucopolysaccharidoses (MPS) as a case study to support #AcceleratedApproval. Register here to attend this important conversation virtually 👉 https://lnkd.in/ebQuRN44

We’re cheering on the recently announced participants in the FDA's START Pilot Program! Aiming to accelerate novel drug and biologic development in the rare disease space, the FDA reviewed applications earlier this year and accepted the following companies into the Program: Larimar Therapeutics Inc. (Friedreich’s Ataxia) Grace Science, LLC (NGLY1 Deficiency) Myrtelle (Canavan Disease) Calico Life Sciences (Vanishing White Matter Disease) Denali Therapeutics (Sanfilippo Syndrome Type A) Neurogene Inc. (Rett Syndrome) The START Pilot Program was designed to enhance communication with FDA staff around clinical study design, control groups, patient population, nonclinical information, and product characterization. This is one of several programs announced by the FDA in recent months including: Rare Disease Endpoint Advancement (RDEA), CMC Development and Readiness, and the Platform Technology Designations Program. At DKP we are hopeful that these initiatives will improve support for development and eventual approval of groundbreaking treatments, providing much-needed hope to patients. #FDA #raredisease #rarediseases #genetherapy #neurodegenerative #pediatricraredisease #rettsyndrome #sanfilipposyndrome #vanishingwhitematterdisease #canavandisease #ngly1deficiency #friedreichsataxia