Who We Are
We are the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Division of Rare Diseases Research Innovation (DRDRI), National Center for Advancing Translational Sciences (NCATS). We are funded by ORDR, NCATS and collaborating institutes and centers.
Our mission is to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. Through the RDCRN rare diseases research groups (consortia), researchers and their teams work together with patient organizations (patient advocacy groups) to study nearly 200 rare diseases at clinical centers across the nation and worldwide.
The RDCRN was established by Congress under the Rare Diseases Act in 2002. The network is an initiative of the National Institutes of Health (NIH), led by the National Center for Advancing Translational Sciences through is Division of Rare Diseases Research Innovation (formerly the Office of Rare Diseases Research). It is funded by collaborating NIH institutes, centers, and offices.
Now in its fourth funding cycle, RDCRN supports 20 rare disease research groups (consortia) that partner with 127 affiliated patient advocacy groups. In total, 180 diseases are currently being studied at 273 active clinical sites, both in the United States and internationally.
October 3, 2019
NIH announces $38 million in funding for 20 consortia and a data management and coordinating center to bolster rare disease research collaborations. The consortia—which include five new groups—will work toward better understanding diseases and moving potential treatments closer to the clinic. Each brings together scientists, clinicians, patients, families, and patient advocates to study a wide range of rare diseases.
October 8, 2014
NIH announces $29 million in funding for 22 consortia and a data management and coordinating center. In partnership with 98 patient advocacy groups, the consortia will advance clinical research and investigate new treatments for patients with rare diseases. Each consortium will conduct a minimum of two multisite clinical studies, including one longitudinal natural history study for a group of at least three related rare diseases.
October 5, 2009
NIH announces $117 million in funding over five years for a second phase of the RDCRN to support 19 research consortia and a data management coordinating center. The research will explore the natural history, epidemiology, diagnosis, and treatment of more than 95 rare diseases.
May 5, 2006
NIH announces funding awards totaling $71 million for a central data and technology coordinating center and 10 research consortia. Groups will investigate a variety of diseases including Angelman, Rett, Prader-Willi syndromes; myelodysplastic syndrome and other bone marrow failure conditions; lymphangioleiomyomatosis (LAM), rare genetic disorders of the airways, and other rare lung diseases; episodic ataxia, Andersen-Tawil syndrome, and nondystrophic myotonias; several vasculitides; urea cycle disorders; antiphospholipid syndrome and other rare thrombotic diseases; rare pediatric liver diseases; and rare genetic steroid defects.
November 3, 2003
The NIH establishes the Rare Diseases Clinical Research Network with $51 million in funding over five years for a data technology coordinating center and the first seven rare disease clinical research consortia. Diseases to be studied include: urea cycle disorders; Angelman's syndrome; Prader-Willi syndrome; Rett syndrome; periodic paralysis; non-dystrophic myotonic disorders; episodic ataxia; aplastic anemia; paroxysmal nocturnal hemoglobinuria; single lineage cytopenias, including granular lymphocyte leukemia, pure red cell aplasia, and myelodysplastic syndromes; vasculitis disorders; inborn defects in steroid hormone pathways; alpha-1 antitrypsin deficiency; lymphangioleiomyomatosis; pulmonary alveolar proteinosis; and hereditary idiopathic pulmonary fibrosis.
February 27, 2003
February 27, 2003 The NIH invites applications for Rare Diseases Clinical Research Centers (RDCRCs) and a Data and Technology Coordinating Center (DTCC), which together will form the Rare Diseases Clinical Research Network.
November 6, 2002
The Rare Diseases Act is signed into law, authorizing the National Institutes of Health to advance medical research on rare diseases by recommending a national research agenda, coordinating research, and providing educational activities for researchers.
Collaborating Institutes and Centers
Funding and/or programmatic support for the RDCRN is provided by:
- Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences (DRDRI, NCATS)
- National Heart, Lung, and Blood Institute (NHLBI)
- National Institute of Allergy and Infectious Diseases (NIAID)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- National Institute of Dental and Craniofacial Research (NIDCR)
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- National Institute of Mental Health (NIMH)
- National Institute of Neurological Disorders and Stroke (NINDS)
- Office of Dietary Supplements
Network Steering Committee
The RDCRN Network Steering Committee oversees governance and decision making for trans-network policies and procedures. Its membership includes the principal investigators of the 20 research consortia, leadership of the Coalition of Patient Advocacy Groups (CPAG) and the DMCC, and the program officer based in the NCATS Division of Rare Diseases Research Innovation (DRDRI).
- Andrea Gropman, MD, Chair
- Division Chief, Neurodevelopmental Pediatrics and Neurogenetics, Children’s National Medical Center
- Principal Investigator, Urea Cycle Disorders Consortium
- Marc Rothenberg, MD, PhD, Co-Chair
- Director, Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center
- Principal Investigator, Consortium of Eosinophilic Gastrointestinal Disease Researchers
- David Kimberlin, MD, Second Co-Chair
- Co-Director, Division of Pediatric Infectious Diseases, University of Alabama at Birmingham
- Principal Investigator, Congenital and Perinatal Infections Consortium
Coalition of Patient Advocacy Groups Steering Committee
An important feature of the RDCRN is the direct involvement of patient advocacy groups (PAGs) in network operations, activities, and strategy. Each consortium in the RDCRN network includes relevant PAGs in their consortium membership and activities. These PAG representatives advise the researchers within their consortium by joining network-level discussions and meetings, representing the perspective and interests of patients with rare diseases.
The Coalition of Patient Advocacy Groups (CPAG) Steering Committee facilitates the development of activities that will benefit the entire CPAG membership. Those activities include (but are not limited to) webinars, in-person meetings, and one-on-one connections with other CPAG members and RDCRN researchers.
- Kristin Anthony, Chair, PTEN Foundation, part of the Developmental Synaptopathies Consortium
- Andrea Miller, Co-Chair, CDG Care, part of the Frontiers in Congenital Disorders of Glycosylation Consortium
Data Management and Coordinating Center (DMCC)
The DMCC at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati is funded by the Division of Rare Diseases Research Innovation (DRDRI) at NCATS to facilitate Network operations, research, participant engagement, and data sharing. Specifically, the DMCC:
- Advances the methods and the practice of rare disease research across the Network and to the broader rare disease community
- Develops and maintains a leading-edge, shared Commons encompassing data and best practices generated by RDCRN sites, Consortia, and community stakeholders
- Establishes the RDCRN as a globally connected resource for improving rare disease research across the entire rare disease ecosystem
- Promotes collaboration and research study readiness, engages patients and families, and creates an “Esprit de Corps” for the RDCRN, through the adoption of Learning System principles
The DMCC is comprised of four Cores, each with distinct attributes and services that it provides to Network participants:
Data Management Core
- Management system for collection, storage, and quality control of Network-derived research data
- A web-based platform that allows for real-time tracking of data quality and completeness and that facilitates remote monitoring
- A portal and tools for research scientists and clinicians to access and manage their own data
- A portal and tools to share information both within and outside of the RDCRN in a manner that meets all local, federal, and international human subjects protection, data safety and data sharing requirements
- Cloud computing services and engineering support for facilitating computing and data services across the Network and to the broader research community
Clinical Research Core
- Protocol development and management support and consultation
- Biostatistics and study design support and consultation
- Support in establishing single IRBs
- Information and guidance for RDCRN members on trans-RDCRN rare disease research issues such as working with industry or navigating the regulatory process
- Coordination of training issues that cut across topics relevant to multiple RDCRC sites for RDCRN trainees
Engagement and Dissemination Core
- A broad RDCRN outreach plan for the Network that extends to basic and clinical researchers, academic and practicing physicians, patients, and the general public
- An internet-based web-portal to serve as a central access point to information generated by the RDCRCs
- Overall coordination for the RDCRN and management of RDCRN activities, including steering committee meetings
- Oversight and coordination of all DMCC Cores
- Support for Coalition of Patient Advocacy Group meetings
- Preparation of the annual report for the External Scientific Panel
Key Data Management and Coordinating Center Personnel
Eileen King, PhD, Contact Principal Investigator
Professor, Department of Pediatrics, University of Cincinnati College of Medicine
Maurizio Macaluso, MD, DrPH, FACE, Co-Principal Investigator
Professor, Department of Pediatrics, University of Cincinnati College of Medicine
Michael Wagner, PhD, Co-Principal Investigator
Associate Professor, Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center
Associate Professor, Department of Pediatrics, University of Cincinnati College of Medicine