If your email program has trouble displaying this email, view as a webpage.

FDA Rare Connections is a newsletter that connects partners in the rare disease and patient advocacy communities with the latest rare disease program updates from across FDA.

July 2026

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. 

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.

Featured FDA Programs

CDER’s Accelerating Rare disease Cures (ARC) Program brings together CDER’s collective expertise and activities to provide strategic overview and coordination of CDER’s rare disease activities. The ARC Program is governed by leadership from across CDER's Office of the Center Director, Office of New Drugs, and the Office of Translational Sciences.

• CURE ID is a platform where patients, caregivers, and clinicians can freely share novel uses of existing drugs and explore what others have tried. The goal is to identify potential treatments for diseases without good treatment options. Visit the CURE ID website to get started: CURE ID | Share and Explore Treatment Experiences. 

• FDA hosts Patient Listening Sessions to connect patients, caregivers, and patient organizations directly with the FDA. Patients can discuss their health condition and help us understand what is most important, including the physical and emotional burdens. To learn more, contact ForPatients@fda.hhs.gov.

• Center for Devices and Radiological Health (CDRH)’s Patient Education Courses provide information about medical devices and the important role of patient advisors throughout the medical device life cycle. The courses are intended for patients, caregivers, patient organizations, industry, and health care stakeholders who are interested in learning how to more effectively engage with the FDA and Medical Device Developers. Visit the CDRH website to view the first course: CDRH Patient Education Program Course Video: Patients as Advisors in Medical Device Clinical Studies | FDA.

Rare Reflections

Rare Reflections features perspectives on rare disease programs, initiatives, and personal stories from across the agency. 

Medical Devices for People Living with a Rare Disease By: Michelle Tarver, M.D., Ph.D., Director, Center for Devices and Radiological Health Medical devices play a key role in the lives of the more than 30 million children and adults who live with a rare disease. Medical devices are used to diagnose or treat rare conditions, supporting critical, life-altering clinical care decisions. Devices ranging from implantable structural supports to remote monitoring wearables—provide critical, lifelong care, precise drug delivery, and vital diagnostic tools necessary to manage complex, rare medical conditions.  For example, FDA-cleared newborn screening devices provide an early warning when an infant is at risk for dangerous health complications and FDA approved implantable devices are used to treat life-threatening cardiac conditions and associated complications, including rare congenital heart diseases. Aligned with our mission, CDRH proactively engages with patients and other stakeholders of the rare disease community, incorporating their perspectives into our regulatory activities. Our work at CDRH assures people with rare diseases have safe, effective, and high- quality medical devices that help diagnose, treat, and manage their conditions. Recent examples include: A novel neuro cannula which delivers targeted gene therapy to the brains of adults and children with aromatic L-amino acid decarboxylase (AADC) deficiency), a rare amino acid deficiency. A test that detects antibodies to the vector used to deliver a targeted gene therapy to people with Duchenne Muscular Dystrophy, to identify which people are eligible and not eligible to for treatment with the gene therapy. Two new spinal growth systems and implantable rods that allow for correction of spine deformities experienced by people with rare early onset scoliosis. These systems allow children undergoing treatment to continue growing. Widely used robotic surgical systems approved for use in a procedure treating tracheobronchomalacia, a rare airway condition. A test that measures the concentration of a novel drug used to treat people with hemophilia A and B to guide drug dosing decisions. While we’ve always been active participants in the FDA Rare Disease Innovation Hub, we are excited by CDRH’s recent appointment as an additional co-chair of the Hub as that means additional opportunities for engagement to advance the development of safe and effective medical devices for these conditions. As a new co-chair, CDRH looks forward to continuing collaboration across the Agency and the rare disease ecosystem to improve the lives and outcomes for patients with rare disease. It is my firm belief that by working together, the next generation of medical devices will significantly improve timely diagnosis and treatment for rare diseases. CDRH will continue to apply our least burdensome regulatory approaches, sustain collaborative engagement across the rare disease community, encourage innovative evidence generation strategies, and maintain rigorous standards for patient safety. I look forward to what the future holds as we work together to foster innovation and patient safety from device concept to retirement, ensuring medical devices meet the needs of the people living with rare disease. This unprecedented cross-center collaboration is breaking down regulatory barriers, offering renewed hope to the millions of patients awaiting life-changing therapies.

In Case You Missed It (ICYMI)

Lessons Learned from our Roundtable with Rare Disease Advocates | FDA

• Hearing directly from patients and family members who navigate these incredibly challenging conditions every day was both grounding and motivating. The conversation reinforced our shared mission and highlighted several key areas where the U.S. Food and Drug Administration must continue to evolve to meet the unique needs of the rare disease community.

OTP Town Hall: Best Practices for Preparing BLA Submissions for Cell and Gene Therapy Products

• The FDA’s Center for Biologics Evaluation and Research (CBER), Office of Therapeutic Products (OTP) hosted a virtual town hall on June 4, 2026. During this town hall, experts from OTP’s Office of Review Management & Regulatory Review (ORMRR) answered questions regarding Biologic License Application (BLA) readiness, including how to request pre-BLA meetings, best practices for preparing submission packages, and tools to navigate the application process.

Fifty Years of the Medical Device Amendments: Building on a Strong Foundation to Advance Safe, Effective and High-Quality Medical Devices

• 2026 marks the 50th anniversary of the 1976 Medical Device Amendments to the Federal Food, Drug, and Cosmetic Act (FD&C Act) – a landmark moment that fundamentally shaped how medical devices are regulated in the United States. For five decades, the 1976 Amendments have served as the foundation of a regulatory framework designed to protect patients while advancing innovation. On May 27, CDRH convened former leaders, alumni, and current staff at a 50^th anniversary commemorative event at White Oak, MD to recognize the people behind this progress. 

RDEA Pilot Program Workshop Materials Available

• The FDA, in collaboration with Triangle CERSI, convened a Rare Disease Endpoint Advancement (RDEA) Pilot Program workshop, titled Advancing Novel Surrogate Endpoints for Rare Disease Drug Development, on May 18, 2026. Workshop discussion included mechanistic and translational science evidence needed to support use of novel surrogate endpoints in rare disease marketing applications.  Discussion also included new approach methodologies, digital health technology and harnessing varied sources of patient-level real world data. The workshop recording and slides are now available