Children’s Hospital of Philadelphia

  • Urea Cycle Disorders Consortium

    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

  • 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

  • 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

  • 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 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

  • Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)

    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

  • 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, costly to manage, and can cause serious complications such as hemorrhages, seizures, and problems with spinal cord, nerve or brain function. Over