Rare Diseases Clinical Research Network (RDCRN)

The Rare Diseases Clinical Research Network (RDCRN) is a network of 20 individual clinical research consortia and a Data Management and Coordinating Center (DMCC) funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences. The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.

Each consortium focuses on at least three related rare diseases or conditions, participates in multisite studies and actively involves patient advocacy groups as research partners. The DMCC enables uniform high-quality data collection and analysis and facilitates information sharing across the network. This robust data source helps scientists better understand the common elements of rare diseases so they may apply that knowledge to improving diagnosis and treatment for these conditions.

Now in its fourth five-year funding cycle, RDCRN is a partnership with funding and programmatic support provided by Institutes, Centers, and Offices across NIH, including the National Institute of Neurological Disorders and Stroke, the National Institute of Allergy and Infectious Diseases, the National Institute of Diabetes and Digestive and Kidney Diseases, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Heart, Lung, and Blood Institute, the National Institute of Dental and Craniofacial Research, the National Institute of Mental Health, and the Office of Dietary Supplements.

Visit the RDCRN Website

  • Vasculitis Clinical Research Consortium

    Vasculitis refers to a group of rare diseases that involve inflammation of blood vessels, which disrupts blood flow and often causes damage to the body’s organs. The cause of most forms of vasculitis remains unknown, and treatments involve the use of strong medications that can have serious side effects. The Vasculitis Clinical Research Consortium (VCRC) is an international, multicenter clinical

  • Urea Cycle Disorders Consortium

    Urea cycle disorders (UCDs) are rare but devastating genetic conditions. Fifteen years ago, the Urea Cycle Disorders Consortium (UCDC) became one of the first members of the RDCRN. Since then, UCDC has flourished into an international network of 16 academic centers in the United States, Canada and Europe that provide state-of-the-art care and conduct cutting-edge clinical research. During the next

  • Primary Immune Deficiency Treatment Consortium

    The Primary Immune Deficiency Treatment Consortium (PIDTC) was established in 2009 to study and define optimal treatments for rare genetic disorders of the immune system, collectively known as primary immunodeficiency diseases. The PIDTC includes 44 immunology and transplantation centers throughout the United States and Canada as well as six patient advocacy groups. In its first nine years, the

  • Porphyrias Consortium (PC)

    The porphyrias are a group of rare, inherited disorders, each caused by a deficiency with one of eight enzymes necessary to produce heme, an important component of hemoglobin and other proteins. The porphyrias are classified as either acute hepatic (liver) or cutaneous (skin); the former is characterized generally by acute attacks of severe abdominal pain accompanied by nausea, vomiting and other

  • North American Mitochondrial Disease Consortium (NAMDC)

    Mitochondrial diseases affect approximately 1 in every 5,000 people. These diseases can cause muscle weakness, difficulty thinking, seizures, hearing and vision loss, digestive problems, learning disabilities, and organ failure. The North American Mitochondrial Disease Consortium (NAMDC) is a network of clinicians and researchers at 17 different clinical sites working to better understand

  • Nephrotic Syndrome Rare Disease Clinical Research Network III (NEPTUNE)

    Focal and Segmental Glomerulosclerosis, Minimal Change Disease and Membranous Nephropathy, presenting as Nephrotic Syndrome (NS), are a group of rare renal diseases that may cause serious complications and end-stage kidney disease, generating significant individual, societal and economic burdens. The Nephrotic Syndrome Study Network (NEPTUNE) brings together physician scientists at 26 sites in the

  • Myasthenia Gravis Rare Disease Network (MGNet)

    Myasthenia gravis (MG) is an autoimmune disease that blocks the signal from nerve to muscle, producing weakness. The nature of the disease can range from isolated severe vision problems, like drooping eyelids or double vision, to profound general weakness leading to breathing muscle failure. Although the cause of MG is not known, the disease appears to vary based on the types of antibodies

  • Lysosomal Disease Network (LDN)

    Lysosomal disorders (LD) are a group of approximately 70 inherited metabolic conditions resulting from defects in lysosomal function; usually deficiency of a single enzyme required for the metabolism of lipids, glycoproteins, or mucopolysaccharides. Collectively, LD are not especially rare; estimates suggest that approximately 1 in 5,000 newborns will be affected with one identified LD

  • Inherited Neuropathies Consortium (INC)

    Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. CMT, also known as hereditary motor and sensory neuropathy or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The Inherited Neuropathy Consortium (INC) is a network of researchers working to find the

  • Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)

    Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the lipid membrane that insulates axons in the central nervous system. Despite advances in the diagnosis of these disorders, they remain widely under-recognized, with unmet gaps in clinical care and curative therapeutics. The Global Leukodystrophy

  • Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

    Consisting of eight clinical research sites across North America, the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) has focused on several inherited and acquired disorders that lead to respiratory diseases that produce thick discharges from infected tissues. During the past 15 years, the consortium has made numerous advances that profoundly changed clinical practice, particularly

  • Frontiers in Congenital Disorders of Glycosylation (FCDGC)

    Congenital disorders of glycosylation (CDG) consist of more than 130 different inborn errors of metabolism at an estimated overall incidence of greater than 1 in 100 000. While they were first genetically defined in the 1990s, there is no data available on natural history, no comprehensive patient registry, no reliable screening tests for many types, and large gaps in clinical trial readiness. In

  • Dystonia Coalition (DC)

    Dystonia syndromes are disorders that cause uncontrollable, repetitive shaking, turning and twisting of affected body parts. The most common dystonia disorders affect the head and neck, eyelids, vocal cords, hands and forearms, and sometimes the entire body. The overall goal of the Dystonia Coalition is to hasten progress in dystonia research. Specific aims include understanding the natural

  • Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)

    Eosinophilic esophagitis, eosinophilic gastritis, eosinophilic gastroenteritis and eosinophilic colitis are disorders in which a type of immune cells (called eosinophils) build up in the digestive tract, causing tissue damage to the esophagus, stomach or colon. These disorders are painful and lifelong, and they make it hard or impossible for people to eat many or all foods. The Consortium of

  • Congenital and Perinatal Infections Rare Diseases Clinical Research Consortium (CPIC)

    The Congenital and Perinatal Infections Consortium is focused on reducing the morbidity and mortality of rare viral infections such as congenital cytomegalovirus (CMV) disease, neonatal herpes simplex virus (HSV) infection, and neonatal viral sepsis caused by enteroviruses (EVs) and the related human parechoviruses (HPeVs). These infections have been grouped together because of their pathogenic

  • Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe)

    Amyotrophic lateral sclerosis (ALS) is a fatal disease that involves progressive death of motor nerves in the brain, brainstem and spinal cord. The disease is closely related to disorders such as primary lateral sclerosis, hereditary spastic paraplegia, progressive muscular atrophy and frontotemporal dementia. These diseases have shared genetic causes and underlying biology. They also have in

  • Brain Vascular Malformation Consortium (BVMC)

    The Brain Vascular Malformation Consortium (BVMC) focuses on three rare brain conditions: familial cerebral cavernous malformation (CCM), Sturge-Weber syndrome (SWS), and hereditary hemorrhagic telangiectasia (HHT). These disorders are poorly understood, are costly to manage, and can cause serious complications such as hemorrhages, seizures, and problems with spinal cord, nerve or brain function

  • The goal of this educational program, a partnership with Project ECHO™ (Extension for Community Healthcare Outcomes), the Rare Bone Disease Alliance (RBDA), and the Osteogenesis Imperfecta Foundation (OIF) is to build capacity to safely and effectively diagnose and treat rare bone diseases and disorders. Each monthly session includes a main presentation, participant-led case presentations, and

  • The Osteogenesis Imperfecta TeleECHO Clinic Series is a partnership between the Osteogenesis Imperfecta Foundation (OIF) and Project ECHO™ (Extension for Community Healthcare Outcomes). This monthly virtual education program aims to build capacity to safely and effectively diagnose and treat osteogenesis imperfecta (OI). Each monthly session includes a main presentation, participant-led case

  • Brittle Bone Disorders Consortium (BBD)

    Brittle bone disorders (BBDs), also known as osteogenesis imperfecta, include 13 inherited conditions involving bones that break easily. BBDs can cause deformity, chronic pain and lead to premature death. This project’s goal is to form a BBD Rare Disease Clinical Research Consortium composed of 10 medical research sites to better understand and treat BBDs. The consortium aims to explore the

  • DSC_RDCRN
    The Developmental Synaptopathies Consortium is composed of a group of medical centers throughout the US studying three related rare genetic syndromes that often cause autism spectrum disorder and intellectual disability. Autism spectrum disorder and intellectual disability (ASD/ID) are severe neurodevelopmental conditions with early childhood onset. Advances in genetics have indicated that ASD/ID