Lessons Learned from our Roundtable with Rare Disease Advocates +... +...

https://www.fda.gov/news-events/fda-voices/lessons-learned-our-roundtable-rare-disease-advocates?utm_medium=email&utm_source=govdelivery Welcome to the first edition of FDA Rare Connections - FDA's public, agency-wide rare disease newsletter. As Acting Commissioner, it has been my honor to interact with patients and advocates who represent so many different diseases to hear the concerns of their communities. As featured in this newsletter, we recently hosted a Roundtable with Rare Disease Advocates where we discussed issues that are key to therapy development for the 95% of rare diseases that do not have an FDA approved therapy. Listening to and learning from the people we serve has always been at the heart of what we do, and that commitment is what drives one of our most important priorities: patient engagement. This newsletter is a single, centralized communication that serves as a one-stop shop for the rare disease community to more readily have access to and be informed of FDA’s most recent activities in the rare disease space. This includes new press releases, guidances, approvals, upcoming events, and personal stories from across the agency focused on rare disease. On a quarterly basis, FDA’s Rare Disease Innovation Hub (Hub) will bring together contributions from FDA’s many rare disease programs and initiatives to feature in each newsletter. This newsletter builds on the Hub’s goal of enhancing meaningful engagement with the rare disease community while strengthening coordination across FDA's many rare disease programs and their deeply committed staff. From advancing clinical reviews to hosting workshops and roundtables, the FDA's work spans all three medical product centers and reflects the top priorities of our leadership team. We are excited to share this inaugural edition and look forward to your feedback so we can continue to better serve your needs. Beyond this newsletter, as we look ahead and more holistically at the Agency’s mission for rare diseases, our shared goal remains the same--to work together with you to make available treatment options for rare disease patients with urgency and scientific rigor. Sincerely, Kyle A. Diamantas, J.D. Acting Commissioner of Food and Drugs Rare Recap The below reflects recent FDA activities that may be of particular interest to the rare disease community. Please visit FDA.gov to view all press announcements, guidance documents and more. https://www.fda.gov/news-events/fda-newsroom/press-announcements?utm_medium=email&utm_source=govdelivery https://www.fda.gov/regulatory-information/search-fda-guidance-documents?utm_medium=email&utm_source=govdelivery July 2026 FDA Approves First Gene Therapy for Young Children with Sickle Cell Disease | FDA The U.S. Food and Drug Administration issued a supplemental approval for Casgevy (exagamglogene autotemcel) for patients aged 2 years and older with either sickle cell disease (SCD) with recurrent vaso-occlusive crises (VOCs) or transfusion-dependent β thalassemia (TDT). This is the first gene therapy approved for patients aged 2 years and older with SCD. June 2026 FDA Actions to Accelerate and Modernize Early and Late-Stage Clinical Development | FDA The U.S. Food and Drug Administration (FDA) announced actions to accelerate and modernize clinical research across the full continuum of drug development —from the Investigational New Drug (IND) phase to late-stage pivotal trials. The FDA’s work is outlined in Operation TrialBlazer, a U.S. Department of Health and Human Services (HHS) initiative. Leveraging Prior Knowledge in the Development of Human Gene Therapy Products Incorporating Genome Editing The U.S. Food and Drug Administration issued a guidance document to assist you (manufacturers, applicants, and other stakeholders) in developing human gene therapy (GT) products incorporating ex-vivo and in vivo genome editing (GE) of human somatic cells (GE products). May 2026 Content of Human Factors Information in Medical Device Marketing Submissions An important consideration for medical devices is the critical impact the device user interface design has on the safe and effective use of the device. Manufacturers routinely perform human factors assessments of the device user interface during device development. The purpose of this guidance is to provide a risk-based framework to guide manufacturers and FDA staff on the human factors information that should be included in a marketing submission to CDRH to facilitate efficiency of the FDA review process. FDA Grants Seventh Approval under the National Priority Voucher Pilot Program | FDA The U.S. Food and Drug Administration issued an approval for Bizengri (zenocutuzumab-zbco), a drug that treats NRG1 fusion-positive cholangiocarcinoma, an ultra-rare, aggressive cancer that forms in the bile ducts. FDA Issues Draft Guidance to Cut Unnecessary Animal Testing for Cancer Drugs | FDA The U.S. Food and Drug Administration issued a draft guidance to reduce unnecessary animal testing in nonclinical safety assessments for certain cancer drugs. Chemistry, Manufacturing, and Controls Flexibilities for Developing Human Cellular and Gene Therapy Products for a Biologics License Application This guidance describes how FDA applies flexibility to the chemistry, manufacturing, and controls (CMC) requirements for human cellular and gene therapy (CGT) products being developed for biologics license applications (BLAs) under Title 21 of the Code of Federal Regulations (CFR) Part 601 (21 CFR 601). April 2026 Safety Assessment of Genome Editing in Human Gene Therapy Products Using Next-Generation Sequencing This guidance provides recommendations for next-generation sequencing (NGS)-based methods used in nonclinical studies that will likely be needed to support initiation of clinical trials of investigational human genome editing (GE) products. Real-World Evidence: Advancing Regulatory Decision-Making for Medical Devices The FDA’s Center for Devices and Radiological Health (CDRH) has long recognized the value of using Real-World Data (RWD) to inform regulatory decisions and is committed to advancing more efficient approaches to generating relevant and reliable Real-World Evidence (RWE) from RWD. FDA has published a new set of 73 examples of marketing authorizations using RWE from FY2020-2025, building on the foundational work presented in the 2021 publication "Examples of Real-World Evidence (RWE) Used in Medical Device Regulatory Decisions." For more information, visit CDRH and Real-World Evidence. FDA Announces READI-Home Innovation Challenge The U.S. Food and Drug Administration (FDA) announced a new Innovation Challenge titled, “READI-Home: Reducing Readmissions through Device Innovation for the Home.” The goal of this Innovation Challenge, which is part of the FDA’s Home as a Health Care Hub Initiative, is to accelerate patient access to medical device technologies aimed at reducing hospital readmission. The FDA invites innovators to pursue potential participation in the Innovation Challenge by providing proposed solutions for medical device technologies to be used in the home setting. These technologies would help support patients and caregivers after an acute hospital stay and may help prevent avoidable readmissions. For more information, visit FDA READI-Home Innovation Challenge: Reducing Readmissions through Device Innovation for the Home | FDA. CMS and FDA Announce RAPID Coverage Pathway to Accelerate Patient Access to Life-Changing Medical Devices The Centers for Medicare & Medicaid Services (CMS) and the U.S. Food and Drug Administration (FDA) announced the Regulatory Alignment for Predictable and Immediate Device (RAPID) coverage pathway, a new pathway designed to expedite access to certain FDA-designated Class II and Class III Breakthrough Devices for people with Medicare. The RAPID coverage pathway allows CMS and the FDA to work together, with innovators, earlier in the technology development lifecycle so that evidence generated for FDA review can also support Medicare coverage decisions. By aligning regulatory and coverage expectations in advance, the RAPID coverage pathway is designed to significantly reduce delays that have historically occurred between FDA market authorization and Medicare national coverage determinations. March 2026 Incorporating Voluntary Patient Preference Information Over the Total Product Life Cycle FDA believes that patients can and should bring their own experiences to bear in helping FDA evaluate the benefit-risk profile of certain devices. This guidance provides updated recommendations to industry and FDA staff for designing, collecting, and evaluating “patient preference information” (PPI) in the context of benefit-risk assessments of devices.