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🇺🇸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.

FDA Rare Disease Innovation Hub to Enhance and Advance Outcomes for Patients 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. Fundamental to the mission of the U.S. Food and Drug Administration is to engage patients and caregivers – to understand their unique perspectives and experiences and keep these front of mind as we review medical products for rare disease patients. 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. There is a huge potential in establishing a new model, within the FDA, to leverage cross-agency expertise and greatly enhance intercenter connectivity to spur the development of treatments for rare diseases. 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, as we recognize that development of therapies for these conditions can be particularly challenging. Read more here: https://shorturl.at/Mgeho #fda #raredisease #patients

FDA Rare Disease Innovation Hub FDA take another step to expedite development and approval of treatments for rare diseases. The Food and Drug Administration (FDA) announced the creation of a Rare Disease Innovation Hub to “expedite development and approval of safe and effective drugs and biologics” for rare diseases. What it will do, according to the FDA: ·   “Serve as a single point of connection and engagement with the rare disease community, including patient and caregiver groups, trade organizations, and scientific/academic organizations.” ·   “Enhance intercenter collaboration to address common scientific, clinical and policy issues related to rare disease product development.” ·   “Advance regulatory science with dedicated workstreams for consideration of novel endpoints, biomarker development and assays, innovative trial design, real world evidence, and statistical methods.” https://lnkd.in/d7fqn6tB

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

The FDA's recent draft guidance presents pivotal considerations in the realm of rare disease therapy development. Here are three key insights: Comprehensive Regulatory Framework: This guidance marks a significant step in providing comprehensive regulatory considerations for the clinical development of small molecule and biologics-based drug products targeting over 7,000 rare diseases, many of which affect children and have no approved treatment. Importance of Natural History Studies: A core aspect highlighted is the crucial role of natural history studies in rare disease drug development. These studies are vital for understanding the progression of rare diseases and tailoring drug development programs accordingly. Pediatric Patient Consideration: The guidance emphasizes the need to include pediatric patients in clinical studies, as about half of those affected by rare diseases are children. This inclusive approach is crucial for ensuring the safety and efficacy of medications across all patient demographics. With the FDA encouraging patient, caregiver, and advocate involvement in rare disease drug development, how might this collaborative approach reshape the future of personalized medicine and patient-centric care in the biopharma industry? #FDA #RareDiseases #DrugDevelopment #cellandgenetherapy https://lnkd.in/eDNwtXAa

Yesterday was #RareDiseaseDay. The annual observance highlights how far the #biopharma industry has come and serves as a wake-up call for how far it must still go to meet the needs of #raredisease patients. Despite recent investment and breakthroughs for #rarediseases, experts told BioSpace that helping a much larger patient population will require cross-sector support and desperately needed funding. We looked at some of the investments to date, as well as the biopharma industry’s promising pipelines and what is required to bring more groundbreaking therapies to patients with unmet medical needs. #Patientadvocacy groups have been critical to the development of the first marketed drugs for certain rare diseases, including progeria and Friedreich's ataxia. We spoke with leaders of these groups formed by families coping with rare diseases, providing case studies on their partnerships with biopharma companies. https://lnkd.in/g7R6hU23 #RareDiseaseDay2024 #genetherapy #genetherapies #duchenne #duchennemusculardystrophy #biopharmaceuticals

Sitryx reports the initiation of a #phase1 first-in-human study of SIT-011 in #collaboration with Eli Lilly and Company to treat chronic #autoimmune and #inflammatory diseases. SIT-011 is the first among the programs from the agreement with Eli Lilly to enter clinical evaluations. The companies have collaborated on the development of programs exploring potentially first-in-class, small molecule immunometabolism-targeting therapies, including SIT-011 and SIT-047.

Dramatic advances in our treatment of cancer have been driven by the realization that the #molecular definition of the disease is just as important as the clinical manifestation. This insight is especially relevant when considering challenging neurodegenerative diseases like #ALS. Over the last 30 years it has become clear that the manifestation of motor neuron loss observed in ALS patients is linked to variants in multiple genes which likely contribute to the disease in unique ways. The development of therapeutics which take into consideration these molecular subtleties is the holy grail of #precisionmedicine. One such a promising drug, tofersen, has been developed by Biogen to treat individuals with SOD1-ALS. torfersen was granted accelerated approval from the FDA last year and Biogen recently announced a positive review from the European Medicines Agency Committee for Medicinal Products for Human Use. However, based on recent rulings by the UK's National Institute for Health and Care Excellence (NICE), eligible patients in the UK may face challenges accessing this therapy. If NICE were to consider the molecular definition of disease SOD1-ALS, tofersen would qualify for review under a special pathway for very rare diseases. Instead, NICE plans to follow a standard review process under the premise that ALS more broadly is not a very rare disease. As STAT's Andrew Joseph highlights in his recent article, this will not only limit access to this medicine for individuals in the UK, it also has potentially concerning impact of dampening pharmaceutical companies' motivation to pursue treatments that, while serving smaller patient populations, offer substantial therapeutic potential. This situation underscores the reality that the journey of a drug from laboratory to patient is multifaceted, particularly for precision medicines. It is critical that diverse parties, including regulatory agencies, come together to work towards getting the right drugs get to the right patients at the right time, worldwide. #innovation #collaboration

The FDA’s Center for Drug Evaluation and Research (CDER) is making strides in addressing rare diseases through various initiatives. With over 7,000 rare diseases affecting millions, CDER's Accelerating Rare disease Cures (ARC) Program is central to these efforts. Key initiatives include enhancing collaboration across FDA centers, developing the Rare Disease Innovation Hub, and implementing expedited review processes. These efforts aim to overcome the challenges of drug development for rare diseases, ensuring faster access to effective therapies for patients. #raredisease #FDA #CBER #healthcare #innovation Explore the full article: https://lnkd.in/dTacjaRM.

“The Rare Disease Moonshot taps into the potential of complementary organizations committed to accelerating progress in this overlooked field. It includes the patient voice alongside those of researchers and experts in biobanks and data analytics, translational medicine, clinical trials, regulatory science, and the biopharmaceutical industry.” This is what so many of us living in the #RareDisease space have wanted for years. Collaboration. Simply put….when stakeholders from across the board bring together each of their unique bits of expertise, hope turns into reality. That’s what we all so desperately want and need. #RareDiseaseTruth #Collaboration #RareDiseaseAwareness #StrongerTogether #FabryDisease #EhlersDanlosSyndrome #PatientEngagement #PatientVoice #Pharma #Biotech #ClinicalTrials DIA