Rare diseases impact more than 400 million people worldwide, including nearly 30 million Americans—half of them children. The vast majority of rare diseases have no FDA-approved treatment available. The Foundation works closely with the rare disease community and the FDA to help inform product development and the regulatory process around these diseases. See below for links to past meetings and workshops we've convened that were focused on rare disease innovation.
We convened an invitation-only roundtable conversation with industry stakeholders and patient representatives to discuss challenges in rare disease drug development and seek ways to enhance the efficiency and agility of generating evidence for regulatory review of rare disease medicines.
A full report capturing the insights of this roundtable will be published soon.
In collaboration with the FDA, we hosted a virtual public workshop on Primary Mitochondrial Diseases. The workshop brought together patient advocates, academic researchers, regulated industry, healthcare providers, and other stakeholders to explore strategies for optimizing therapeutic development and designing meaningful clinical studies to accelerate drug development.
Click here to read an article from Molecular Genetics and Metabolism Journal summarizing the presentations and reactor panels included in the workshop.
In collaboration with FDA's Rare Disease Innovation Hub, we hosted a public meeting to engage rare disease advocacy groups, academia, regulated industry, and other stakeholders. The meeting and accompanying federal docket—which received more than 60 written comments—helped inform how the Hub can engage the rare disease community and prioritize its work.
Click here to read the summary of key themes covered during the meeting.
In collaboration with the Bill & Melinda Gates Foundation, we hosted a hybrid public workshop on Scientific Advancements in Gene Therapies: Opportunities for Global Regulatory Convergence. The workshop examined the current and next generation of gene therapies, regulatory considerations—particularly in low- and middle-income countries—and featured perspectives from patient advocates, clinicians, researchers, industry, and regulators.
Click here to read an article from Biomedicines Journal highlighting the critical discussion points from the workshop.
In collaboration with FDA and NIH partners, we hosted a public workshop bringing together patient advocates, academic researchers, regulated industry, and other stakeholders to discuss the use of natural history studies and registries in rare disease drug development. The workshop explored how these data can inform treatment development and clinical trial design, including considerations for collecting regulatory-grade data and supporting regulatory decision-making.
Click here to read key takeaways from the workshop.
Our day-long, hybrid public workshop on Qualifying Biomarkers to Support Rare Disease Regulatory Pathways examined primary disease activity biomarkers in rare genetic diseases—using heparan sulfate in neuronopathic mucopolysaccharidoses (MPS) as a case study—and featured perspectives from FDA representatives, patient advocates, researchers, and regulated industry.
Click here to read the workshop proceedings summary report.