Rare Diseases Clinical Research Network Releases First-Ever Annual Report

Research By: Maurizio Macaluso, MD, DPH | Michael Wagner, PhD | William R. Otto, MD

Post Date: November 4, 2026 | Publish Date:

Rare Diseases Clinical Research Network 2026 Annual Report

New report highlights nationwide research collaborations and Cincinnati Children’s role in advancing rare disease discoveries

Key Takeaways

The Rare Diseases Clinical Research Network (RDCRN) has released its first annual report, highlighting research spanning 198 rare diseases, 183 clinical sites and 91 patient advocacy organizations.
Cincinnati Children’s has served as the network’s Data Management and Coordinating Center (DMCC) since 2019, helping researchers across the country collaborate, share data and prepare for clinical trials.
Research conducted through the RDCRN has contributed to 13 FDA-approved treatments for rare diseases and supported studies involving more than 300 disorders.
Cincinnati Children’s has served as the network’s Data Management and Coordinating Center (DMCC) since 2019, helping researchers across the country collaborate, share data and prepare for clinical trials.

Rare diseases may affect relatively few people individually, but together they impact millions of children and adults. Finding effective treatments can be especially challenging when patients are scattered across the country, clinical expertise is limited and researchers lack access to large enough datasets.

Overcoming these barriers requires collaboration on a national scale.

That’s the mission of the Rare Diseases Clinical Research Network (RDCRN), a National Institutes of Health (NIH)-supported initiative connecting researchers, clinicians, patients and advocacy organizations to accelerate rare disease research.

The network recently released its first-ever annual report, showcasing scientific advances, new research initiatives and the partnerships making progress possible. The report also highlights the contributions of Cincinnati Children’s, which has served as the network’s Data Management and Coordinating Center (DMCC) since 2019.

“Researchers encounter numerous challenges when developing therapies for rare diseases, including limited patient populations and a scarcity of disease experts,” says Tiina Urv, PhD, RDCRN program director within the NIH’s Division of Rare Diseases Research Innovation. “Collaborative partnerships are essential to address these obstacles and reduce the impact of rare diseases.”

Advancing Rare Disease Research Through Collaboration

Established following passage of the Rare Diseases Act of 2002, the RDCRN brings together specialized research teams from institutions nationwide to study rare conditions, share expertise and accelerate progress toward new treatments.

Led by the NIH’s National Center for Advancing Translational Sciences (NCATS), the network currently supports 23 research consortia investigating conditions ranging from inherited bone disorders and vascular malformations to rare neurological diseases, metabolic conditions and invasive fungal infections.

Its first annual report—marking the beginning of the network’s fifth funding cycle—illustrates the scale of this collaborative effort.

During the reporting period, the RDCRN:

Studied 198 rare diseases across 183 clinical sites.

Partnered with 91 patient advocacy organizations.

Published 86 scientific papers and approved 25 new research protocols.

Funded 22 early-career investigator and pilot research awards to support emerging researchers and innovative projects.

Since its inception, research conducted through the network has contributed to 13 FDA-approved treatments and supported investigations involving more than 300 rare disorders.

These accomplishments demonstrate how connecting patients, researchers and resources across institutions can help overcome challenges that individual research centers often cannot address alone.

Cincinnati Children’s Helps Power a Nationwide Research Network

Behind the RDCRN’s collaborative research efforts is a centralized infrastructure that helps investigators coordinate studies, manage data and share resources.

Since 2019, Cincinnati Children’s has led this work through the network’s Data Management and Coordinating Center, which provides the operational and scientific infrastructure that helps the network function as a coordinated research community.

Co-led by Maurizio Macaluso, MD, DrPH, FACE, and Michael Wagner, PhD, the DMCC draws on expertise from Cincinnati Children’s Divisions of Biostatistics and Epidemiology and Biomedical Informatics, along with the James M. Anderson Center for Health Systems Excellence.

The center provides the scientific, technical and operational support needed to connect research teams across the country, streamline research activities and strengthen the network’s ability to conduct clinical studies.

The annual report highlights several recent accomplishments, including:

Onboarding 15 research consortia and establishing dedicated teams to support their work.

Launching 10 consortium websites to improve access to research information and resources.

Creating network-wide databases of research protocols and clinical sites to strengthen coordination and information sharing.

Developing a clinical trial readiness survey to identify common barriers and opportunities for advancing rare disease studies.

The DMCC also expanded support for the Coalition of Patient Advocacy Groups, helping ensure patient perspectives remain central to research priorities. Additionally, the center helped launch the Early Career Enhancement Collaborative, which provides training, mentoring and professional development opportunities for the next generation of rare disease investigators.

Together, these efforts are helping build the infrastructure needed to move rare disease discoveries from research studies toward potential treatments.

Using Large-Scale Clinical Data to Study Rare Fungal Infections

Beyond its leadership of the coordinating center, Cincinnati Children’s contributes directly to scientific investigations across the RDCRN.

One example featured in the report is William R. Otto, MD, an attending physician at Cincinnati Children’s and co-investigator in the Pediatric Fungal Network STudy of Rare Invasive Fungal DisEases in Immunocompromised Pediatric Patients (PFN-STRIDE) consortium.

Otto’s research focuses on a significant challenge in pediatric medicine: identifying and studying rare invasive fungal infections in children with weakened immune systems.

These infections—including aspergillosis, mucormycosis and fusariosis—can cause serious complications in vulnerable patients. Because individual hospitals may encounter relatively few cases, researchers often struggle to assemble enough data to better understand these diseases.

With support from a PFN-STRIDE pilot grant, Otto is developing and validating methods to identify these infections using Epic Cosmos, a large-scale platform that brings together de-identified electronic health record data from healthcare organizations.

His project uses computable phenotypes—standardized methods for identifying patients with specific conditions in electronic health records—to help researchers recognize cases of rare fungal infections across large datasets.

If successful, this approach could make it easier to study patterns of infection, identify affected patients for research and support future multi-institutional studies.

In the annual report, Otto describes how participation in PFN-STRIDE has connected him with researchers and mentors nationwide while expanding opportunities to use large-scale clinical data in rare disease research.

His work illustrates the value of the RDCRN’s collaborative model: connecting specialized expertise and shared resources to investigate conditions that are difficult to study at any single institution.

Building Momentum for Future Discoveries

As the RDCRN enters its next phase, participating research teams are expanding efforts to better understand how rare diseases develop and progress, identify biomarkers and strengthen readiness for future clinical trials.

The network’s first annual report offers a look at the scientific progress already underway and the collaborative infrastructure needed to sustain it.

For Cincinnati Children’s, that work extends from coordinating research activities nationwide to developing innovative approaches for studying rare conditions in children.

Through these contributions, Cincinnati Children’s is helping researchers overcome longstanding barriers in rare disease research and move closer to discoveries that could improve diagnosis, care and treatment for patients and families.