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.
- The Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium studies the health, neurologic, cognitive, neuropsychiatric, patient-reported and quality-of-life outcomes in individuals with chronic elevations of the amino acid phenylalanine in blood (hyperphenylalaninemia). In the United States, elevated blood phenylalanine is typically detected at birth through newborn
The NEPTUNE Career Development program is designed to support advanced post-doctoral and junior faculty trainees, or established investigators interested in redirecting their investigative focus, who are preparing to become independent investigators in clinical and translational research in human glomerular disease.
- Osteogenesis Imperfecta Foundation
On June 24, 2021 Tracy Hart, CEO of the OI Foundation, and Dr. Deborah Krakow, OIF Medical Advisory Council (MAC) member, discussed women's health and pregnancy research. This conversation is part of a series highlighting the work of the Brittle Bone Disorders Consortium (BBDC), a multi-center program that focuses on understanding and providing better treatment options for all types of
- Osteogenesis Imperfecta Foundation
On Wishbone Day, May 6, 2021, Cameron Penn, President of the OIF Board of Directors, interviewed Dr. Brendan Lee, Principal Investigator for the Brittle Bone Disease Consortium (BBDC). Their discussion covered the history of the BBDC, current OI research, and answered audience questions. This conversation is part of a series highlighting the work of the Brittle Bone Disorders Consortium (BBDC), a
- The Rare Diseases Clinical Research Network’s Data Management and Coordinating Center (DMCC) at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati is funded by the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences to facilitate network operations, research, participant engagement and data sharing. Specifically, the DMCC
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 (UCDs) are rare but devastating genetic conditions. In 2003, 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. The UCDC is currently
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
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
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
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
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 several factors, including the
Lysosomal disorders (LD) are a group of approximately 70 inherited conditions resulting from defects in lysosomal function, usually the deficiency of a single enzyme required for the metabolism of lipids, glycoproteins, or mucopolysaccharides. Collectively, LD are not especially rare, and estimates suggest that roughly 1 in 5,000 newborns will be affected with one identified LD. However, each
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
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
The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) focuses on several inherited and acquired disorders that cause thickened, infected secretions to accumulate in the upper and lower airways. Its work is conducted at eight clinical research sites across the United States and Canada. During the past 15 years, the consortium has made numerous advances that profoundly changed clinical
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 these disorders were first genetically defined in the 1990s, there is no data available on their natural history, no comprehensive patient registry, no reliable screening tests for many types, and large gaps in clinical
Dystonia syndromes are disorders that cause certain regions of the body to have uncontrollable movements, including twisting, spasms, repetitive shaking, or jerking. The most common dystonia disorders affect the head and neck, eyelids, vocal cords, hands, forearms, and sometimes the entire body. The overall goal of the Dystonia Coalition is to accelerate progress in dystonia research. Specific
Eosinophilic esophagitis, eosinophilic gastritis, eosinophilic gastroenteritis, and eosinophilic colitis are disorders in which a type of immune cell (called eosinophils) builds up in the digestive tract, causing gastrointestinal tissue damage. These disorders are painful, lifelong, and make it hard or impossible for people to eat many or all foods. The Consortium of Eosinophilic Gastrointestinal
The Congenital and Perinatal Infections Consortium (CPIC) 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
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 as well as a shared
- 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, costly to manage, and can cause serious complications such as hemorrhages, seizures, and problems with spinal cord, nerve or brain function. Over
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 (BBDs), also known as osteogenesis imperfecta, include 13 inherited conditions involving bones that break easily. Brittle bone disorders can cause deformity and chronic pain and lead to premature death. The Brittle Bone Disorders Consortium (BBDC) includes ten medical research sites working to better understand and treat these disorders. The consortium aims to explore the
- Autism spectrum disorder (ASD) affects 1 in 59 children in the United States and is a major public health concern and challenge. The Developmental Synaptopathies Consortium (DSC) aims to explore the underlying causes of autism by focusing on three rare genetic disorders related to ASD, including Tuberous Sclerosis Complex (TSC), PTEN Hamartoma Tumor Syndrome (PHTS) and Phelan-McDermid Syndrome