Grant boosts rare disease research role for Cincinnati Children’s
Hospital to continue as research network coordinator for another 5 years

A $27 million grant will enable Cincinnati Children’s to continue to serve as the hub of a network of rare disease research centers for five more years.
The grant, from the National Center for Advancing Translational Sciences, allows the hospital to continue as data management and coordinating center for the Rare Diseases Clinical Research Network (RDCRN). Cincinnati Children’s received a $19 million grant from the organization in 2019 to establish the network.
The RDCRN is a clinical research program involving more than 300 clinical sites that collect, organize, analyze, and share data on rare diseases. A rare disease is defined as one affecting fewer than 200,000 people in the U.S., such as aromatic l-amino acid decarboxylase (AADC) deficiency.
The Data Management and Coordinating Center (DMCC) at Children’s “combines strong expertise with outstanding infrastructure, state-of-the-art technology, and institutional support,” Maurizio Macaluso, MD, director of the biostatistics and epidemiology division at Cincinnati Children’s and one of the leaders of the center, said in a hospital news story.
“We will help accelerate discovery and collaboration across the RDCRN, bring new treatment options to trial, and improve health and wellness for rare disease patients and their families,” Macaluso said.
Many diseases, common challenges
Although rare diseases are uncommon individually, together they affect an estimated one out of every nine Americans. More than 10,000 diseases, including AADC deficiency, meet the U.S. definition of a rare disease. The RDCRN studies more than 190 of these.
AADC deficiency isn’t currently part of the network’s research program. However, it reflects several common challenges that people with rare diseases and their families face.
Like most rare diseases, AADC deficiency is a genetic disorder. Its symptoms usually appear in the first year of life. AADC deficiency diagnosis typically includes a combination of blood testing, cerebrospinal fluid testing, and genetic testing.
Awareness of AADC deficiency is low, and its symptoms can resemble other conditions. This means that — as is often true of rare diseases — reaching a correct diagnosis can be a complex process.
Although AADC deficiency treatment has focused on symptom management, recent gene therapy advances like Kebilidi now offer disease-targeting treatment. More broadly, rare disease research continues to face challenges like small patient populations and limited trial enrollment.
The RDCRN aims to streamline the research process, enabling more clinical trials of new treatments. Since its launch in 2002, it has supported hundreds of studies, contributing to U.S. approval of 11 rare disease treatments. The group also supports investigations of the natural history of diseases.
Nineteen research groups, or consortia, each studying at least three different diseases, contribute to the RDCRN. Scientists, clinicians, patients, and advocates collaborate within each consortium.
Their efforts produce vast amounts of data, and the DMCC helps structure, store, and share information among collaborators.
“The DMCC is responsible for providing state-of-the-art infrastructure for collaboratively implementing best practices that help consortia coordinate their research efforts,” said Michael Wagner, PhD, associate professor at the University of Cincinnati and co-leader of the center. “By ensuring reproducibility of results and making research data accessible, we help ensure that precious data from the limited numbers of patients eligible for and willing to participate in clinical trials is used as efficiently as possible.”
The center also helps design experiments and protocols, develop data collection instruments, and facilitate data analysis.
With the new grant, the center plans to continue research support and data sharing, and to expand the RDCRN’s collaborative network and facilitate more collaboration among researchers in support of the RDCRN goals of improving scientific understanding of rare diseases and testing potential treatments.