Medical Devices for People Living with a Rare Disease +... +... +... +...

Michelle Tarver 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 https://www.fda.gov/news-events/fda-voices/lessons-learned-our-roundtable-rare-disease-advocates?utm_medium=email&utm_source=govdelivery 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 https://www.fda.gov/news-events/fda-voices/fifty-years-medical-device-amendments-building-strong-foundation-advance-safe-effective-and-high?utm_medium=email&utm_source=govdelivery 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 50th anniversary commemorative event at White Oak, MD to recognize the people behind this progress. RDEA Pilot Program Workshop Materials Available https://trianglecersi.org/news/workshop_novel_surrogate_endpoints_rare-diseases?utm_medium=email&utm_source=govdelivery 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 here. More rare disease drug development resources can be found on FDA’s Center for Drug Evaluation and Research (CDER’s) Accelerating Rare disease Cures (ARC) Program website. Advancing Pediatric Cell and Gene Therapy Clinical Trials: Scientific, Ethical, Regulatory, and Practical Considerations The FDA’s Center for Biologics Evaluation and Research (CBER), Office of Therapeutic Products (OTP) and the Alliance for Regenerative Medicine (ARM) co-hosted a hybrid workshop on April 9, 2026, titled “Advancing Pediatric Cell and Gene Therapy Clinical Trials.” The workshop explored the issues surrounding clinical trials for cell and gene therapies (CGTs) in pediatric populations, particularly for diseases where earlier intervention may result in greater therapeutic benefit. This includes conditions that affect both pediatric and adult populations, as well as diseases that occur primarily in children.