Consortia Directory
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.
Currently, the RDCRN consists of 20 individual clinical research consortia and a Data Management and Coordinating Center (DMCC). 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.
Learn More About the RDCRN Consortia
Brain Vascular Malformation Consortium
BVMC
Brain Vascular Malformation Consortium
Grant number: U54 NS065705-11
Principal Investigator: Helen Kim, MPH, PhD
Lead Institution: University of California San Francisco
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 last ten years, the BVMC made great progress in creating patient registries that led to several important discoveries, including the gene for SWS port-wine stain, the first predictor that stratified hemorrhage risk in HHT patients with brain arteriovenous malformations, and inflammatory genetic modifiers of a novel signaling pathway involved in CCM lesion formation. These scientific discoveries in turn help doctors better diagnose and treat patients. Looking ahead to the next five years, BVMC projects will continue these important lines of work in preparation for clinical trials of treatments for these disorders, working closely with three patient advocacy groups and 24 clinical recruitment centers across North America and Europe.
Consortium Project Manager: Phillip Evans
Contact Information: phillip.evans@ucsf.edu
BVMC is funded under grant number U54NS065705 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).
Brittle Bone Disorders Consortium
BBDC
Brittle Bone Disorders Consortium
Grant number: U54 AR068069-06
Principal Investigator: Brendan Lee, MD
Lead Institution: Baylor College of Medicine
Brittle bone disorders (BBDs), also known as osteogenesis imperfecta, includes 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 14 medical research sites working to better understand and treat these disorders.
Consortium Project Manager: Dianne Nguyen, BS
Contact Information: diannen@bcm.edu
BBDC is funded under grant number U54AR068069 as a collaboration between NCATS, the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Mental Health, and the National Institute of Dental and Craniofacial Research (NIDCR).
Clinical Research in ALS and Related Disorders for Therapeutic Development
CReATe
Clinical Research in ALS and Related Disorders for Therapeutic Development
Grant number: U54 NS092091-06
Principal Investigator: Michael Benatar, MD, PhD
Lead Institution: University of Miami
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 lack of effective therapies. The Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium brings together a multidisciplinary group of researchers and a diverse array of patient advocacy groups to bridge the gap between basic scientists and investigators engaged in clinical-translational research. The goals of the CReATe Consortium are to advance understanding of the contribution of genetics to these complex disorders, promote development of biological features (biomarkers) that may enhance therapeutic development efforts, train a new generation of clinical scientists, and engage the public and scientific communities in partnerships that enhance clinical research and therapy development.
Consortium Project Manager: Anne Cooley
Contact Information: projectcreate@miami.edu
CReATe is funded under grant number U54NS092091 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).
Congenital and Perinatal Infections Consortium
CPIC
Congenital and Perinatal Infections Consortium
Grant number: U54 AI150225-01
Principal Investigator: David Kimberlin, MD | Charlotte Hobbs, MD
Lead Institution: University of Alabama at Birmingham
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 pathogenic potential in the neonatal population and the current and future opportunities to intervene meaningfully to improve outcomes. Though antiviral therapeutic agents with activity against each of these viruses already exist (CMV, HSV) or are in development (EV, HPeV), collective consequences include developmental and motor delays, neurologic morbidity, visceral organ damage, hearing and vision loss, respiratory and cardiac complications, septic shock, and death. The opportunity to reduce the impacts of these diseases forms a common purpose among the 29 consortium members. Led by the University of Alabama at Birmingham, these 29 sites have cooperated closely for decades as the Collaborative Antiviral Study Group to investigate the natural history and treatment of rare congenital and perinatal infectious diseases, and will continue to advance their research as an RDCRN consortium.
Consortium Project Manager: Jill Bailey-Griffin, RN, MSN
Contact Information: jillgriffin@uabmc.edu
CPIC is funded under grant number U54AI150225 as a collaboration between NCATS and the National Institute of Allergy and Infectious Diseases (NIAID).
Consortium of Eosinophilic Gastrointestinal Disease Researchers
CEGIR
Consortium of Eosinophilic Gastrointestinal Disease Researchers
Grant number: U54 AI117804-06
Principal Investigator: Marc E. Rothenberg, MD, PhD
Lead Institution: Cincinnati Children's Hospital Medical Center
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 Disease Researchers (CEGIR) includes clinical centers in Arkansas, California, Colorado, Illinois, Maryland, Massachusetts, Minnesota, New York, North Carolina, Ohio, Pennsylvania, Texas and Utah. CEGIR’s goals are to improve the lives of patients with eosinophilic gastrointestinal diseases through research. CEGIR is conducting innovative clinical studies including interventional trials. CEGIR is collecting clinical information and biological samples from patients to better understand, diagnose and treat these conditions; develop the best methods to measure symptoms and track patients; develop better treatments; make data available to patients, clinicians, researchers, and the public; and engage and cooperate with patient advocacy groups.
Consortium Project Manager: Rachel Andrews | Lauren Turner | Regina Yearout
Contact Information: rachel.andrews@childrenscolorado.org | lauren.turner@cchmc.org | regina.yearout@cchmc.org
CEGIR is funded under grant number U54AI117804 as a collaboration between NCATS, the National Institute of Allergy and Infectious Diseases (NIAID), and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
Developmental Synaptopathies Consortium
DSC
Developmental Synaptopathies Consortium
Grant number: U54 NS092090-06
Principal Investigator: Mustafa Sahin, MD, PhD
Lead Institution: Boston Children's Hospital
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 (PMS). Understanding the pathophysiology of these rare disorders will lead to the discovery of therapeutic targets, which is the long-term goal of the DSC. The vast data and deep phenotyping of participants with TSC, PTEN and PMS collected to date will be further expanded in this new cycle of the project to include collection of data into adulthood for each disorder. This will allow for additional understanding of the trajectory of each disease and inform not only the research and clinical community, but also other groups that support and educate people affected by these disorders. Additionally, the electrophysiological investigation of these three related diseases will help in the exploration of translational biomarkers and new therapeutic strategies.
Consortium Project Manager: Rajna Filip-Dhima, MS
Contact Information: rajna.filip-dhima@childrens.harvard.edu
DSC is funded under grant number U54NS092090 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institute of Mental Health (NIMH).
Dystonia Coalition
DC
Dystonia Coalition
Grant number: U54 NS116025-09
Principal Investigator: Hyder Jinnah, MD, PhD
Lead Institution: Emory University
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 aims include understanding the natural history of dystonia syndromes, crafting formal diagnostic guidelines for these syndromes, creating a bank of DNA samples for dystonia research, and developing different ways to measure the severity of each type of dystonia.
Consortium Project Manager: Gamze Kilic-Berkmen, PhD
Contact Information: dystoniacoalition@emory.edu
The Dystonia Coalition is funded under grant number U54NS116025 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS). This website is hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and NINDS under grant number TR002818.
Frontiers in Congenital Disorders of Glycosylation
FCDGC
Frontiers in Congenital Disorders of Glycosylation
Grant number: U54 NS115198-01
Principal Investigator: Eva Morava-Kozicz, MD, PhD
Lead Institution: Icahn School of Medicine at Mount Sinai
Congenital disorders of glycosylation (CDG) consist of more than 170 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 trial readiness. In response, a nationwide network of 13 sites total (including 9 clinical sites) was established to: define the natural history; validate patient-reported outcomes and share CDG knowledge; develop and validate new biochemical diagnostic techniques and therapeutic biomarkers to increase clinical trial readiness; and evaluate whether dietary treatments restore appropriate glycosylation to improve clinical symptoms and quality of life. As with all RDCRN consortia, patients are key partners in research. The consortium leverages cross-disciplinary, team-based clinical science to address decades of unresolved questions; increase clinical trial readiness; advance and share knowledge, awareness and education on CDG; and, most importantly, develop treatments and meet unmet patient needs.
Consortium Project Manager: Alyssa (Ali) Eastman
Contact Information: eastman.alyssa@mayo.edu
FCDGC is funded under grant number U54NS115198 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the Office of Dietary Supplements (ODS).
Genetic Disorders of Mucociliary Clearance Consortium
GDMCC
Genetic Disorders of Mucociliary Clearance Consortium
Grant number: U54 HL096458-16
Principal Investigator: Stephanie D. Davis, MD | Thomas Ferkol, MD
Lead Institution: University of North Carolina at Chapel Hill
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 practice, particularly in primary ciliary dyskinesia, a rare disease characterized by chronic sinopulmonary infections, middle ear involvement, laterality defects, and infertility. Novel insights into the genetics of primary ciliary dyskinesia have allowed consortium investigators to define clinical features, revolutionize diagnostics, and uncover genotype-phenotype relationships. Recently, the consortium has expanded its focus to include primary immunodeficiencies, a heterogeneous group of disorders that often share clinical features with primary ciliary dyskinesia. The overarching goals of this multidisciplinary effort are to define the genetic bases, pathophysiology and clinical manifestations; expand diagnostic capabilities; and identify therapeutic targets and trial endpoints in these rare, chronic respiratory diseases, ultimately improving outcomes for affected individuals.
Consortium Project Manager: Kelli M. Sullivan, MPH | Joseph Hatch, MSPH
Contact Information: kelli_sullivan@med.unc.edu | hatchjo@email.unc.edu
GDMCC is funded under grant number U54HL096458 as a collaboration between NCATS and the National Heart, Lung, and Blood Institute (NHLBI).
Global Leukodystrophy Initiative Clinical Trials Network
GLIA-CTN
Global Leukodystrophy Initiative Clinical Trials Network
Grant number: U54 NS115052-01
Principal Investigator: Florian S. Eichler, MD | Adeline L. Vanderver, MD | S. Ali Fatemi, MD, MBA
Lead Institution: Children's Hospital of Philadelphia
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 Initiative Clinical Trials Network (GLIA-CTN) is a consortium of scientists, industry stakeholders, and patient advocacy leaders working together to promote advances in the diagnosis and treatment of leukodystrophies. Specifically, it seeks to create a robust research infrastructure that will allow for collection and analysis of longitudinal natural history data, development of novel clinical outcome assessments, and identification of surrogate biomarkers, ultimately paving the way for transformative therapeutic trials across the leukodystrophies. In parallel to these approaches, the GLIA-CTN will work closely with a diverse group of stakeholders to promote disease awareness and education—including newborn screening and early diagnosis—and establish clinical guidelines to support the short- and long-term care of individuals living with leukodystrophies.
Consortium Project Manager: Omar Sherbini, MPH
Contact Information: sherbinio@chop.edu
GLIA-CTN is funded under grant number U54NS115052 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).
Inherited Neuropathy Consortium
INC
Inherited Neuropathy Consortium
Grant number: U54 NS065712-12
Principal Investigator: Michael Shy, MD
Lead Institution: University of Iowa
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 best treatments for CMT. Over the past few years, the INC has carried out studies, identified multiple genetic causes of CMT, begun testing possible markers for CMT, enrolled thousands of patients in its studies, trained young scientists in CMT research, and created a website that provides information about CMT to patients, families, and researchers. INC’s future goals include conducting further natural history studies to enable clinical trials, continuing the search for biological features (biomarkers) of disease, continuing to identify novel genetic causes and modifiers of CMT, and continuing to provide information to patients, their families, doctors and researchers.
Consortium Project Manager: Nicole Kressin, RN, MSN
Contact Information: nicole-kressin@uiowa.edu
INC is funded under grant number U54NS065712 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).
Lysosomal Disease Network
LDN
Lysosomal Disease Network
Grant number: U54 NS065768-11
Principal Investigator: Chester Whitley, MD, PhD
Lead Institution: University of Minnesota
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 disorder occurs with a much lower frequency and along a spectrum. For example, Fabry disease occurs in roughly 1 in 40,000 live births but MPS VII occurs in roughly 1 in 250,000. Although each LD results from a unique gene mutation, at the biochemical level they share a common characteristic: the inability to clear metabolic substrate from the lysosome. Presenting symptoms vary widely among—and sometimes within—the disorders and are modified by age of onset and severity. To date, approximately a dozen LD have therapeutic options and some conditions have more than one. Many of these therapies, however, remain sub-optimal and, apart from MPS I, approved therapies are not particularly effective in treating those LD with neurologic dysfunction. Originally founded in 2003 and funded by the NIH in 2008, the Lysosomal Disease Network (LDN) has striven to mirror the historic nature of LD by advancing innovative science dedicated to the explanation of the obstacles present to developing optimal therapies for all LD. To that end, the overarching themes of the LDN are clinical trial readiness, newborn screening, long-term outcomes, and global reach. The LDN advances these goals by conducting longitudinal clinical research projects focused on clarifying disease pathology along with cutting-edge pilot studies designed to promote innovation. The continuing educational efforts of the LDN center around the training of new fellows with an interest in LD.
Consortium Project Manager: Brenda Diethelm-Okita, MPA
Contact Information: dieth001@umn.edu
LDN is funded under grant number U54NS065768 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
Myasthenia Gravis Rare Disease Network
MGNet
Myasthenia Gravis Rare Disease Network
Grant number: U54 NS115054-01
Principal Investigator: Amanda Guidon, MD | Henry Kaminski, MD | Richard Nowak, MD | Vern Juel, MD
Lead Institution: George Washington University
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 types of antibodies injuring the muscle, age, sex, and abnormalities of the thymus gland, which is an important part of the immune system. The Myasthenia Gravis Rare Disease Network (MGNet) serves as a centralized, international consortium for physicians, scientists, and patient advocacy groups as well as industry partners to develop resources and implement ideas to enhance discovery, treatment, and advocacy for the patient community. The immediate goals of MGNet are to further define how patients respond to conventional treatments over time, evaluate a novel drug for therapy of some forms of MG, find biological markers of the disease (biomarkers), and encourage new scientists to focus research on MG.
Consortium Project Manager: Alex Hammett | Anosha Khan | Helen Girma
Contact Information: alex.hammett@duke.edu | anoskhan@mfa.gwu.edu | hgirma@mfa.gwu.edu
MGNet is funded under grant number U54NS115054 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).
Nephrotic Syndrome Study Network
NEPTUNE
Nephrotic Syndrome Study Network
Grant number: U54 DK083912-11
Principal Investigator: Matthias Kretzler, MD
Lead Institution: University of Michigan
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 37 sites in the United States and Canada and patient advocacy groups to advance research on these diseases. NEPTUNE recruits adult and pediatric participants who are undergoing a kidney biopsy for clinical care, and pediatric participants with incident NS but without a diagnostic kidney biopsy. Both groups are followed longitudinally and biospecimens are collected at key study visits, including tissue (at biopsy only), blood, and urine. Using a systems biology and precision medicine approach, NEPTUNE is working to define NS in molecular terms, identify novel therapeutic targets, and test strategies to match patients with treatments in ongoing clinical trials. NEPTUNE recently added a cohort of patients with Alport Syndrome. This cohort follows the same data and biospecimen protocol as the nephrotic syndrome cohorts.
Consortium Project Manager: Tina Mainieri, MA
Contact Information: tmainier@med.umich.edu
NEPTUNE is funded under grant number U54DK083912 as a collaboration between NCATS and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
North American Mitochondrial Disease Consortium
NAMDC
North American Mitochondrial Disease Consortium
Grant number: U54 NS078059-09
Principal Investigator: Michio Hirano, MD
Lead Institution: Columbia University Irving Medical Center
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 mitochondrial diseases, improve diagnosis and explore treatments. In the past eight years, NAMDC has established a biorepository for tissue samples, a large registry and follow-up study with more than 1,500 patients, a website to educate and recruit patients, and studies to define the natural history of mitochondrial diseases. NAMDC also has initiated research studies that focus on several subtypes of mitochondrial diseases as well as a training program to educate the next generation of researchers. During the next few years, NAMDC will expand its clinical registry study and biorepository, perform advanced molecular diagnostic testing, conduct natural history and treatment studies, and continue training future clinician-scientists.
Consortium Project Manager: Janet DeRosa, MPH
Contact Information: jtd5@cumc.columbia.edu
NAMDC is funded under grant number U54NS078059 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the Office of Dietary Supplements (ODS).
Phenylalanine Families and Researchers Exploring Evidence
PHEFREE
Phenylalanine Families and Researchers Exploring Evidence
Grant number: U54 HD100982-01
Principal Investigator: Cary Harding, MD
Lead Institution: Oregon Health & Science University
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 screening and is caused by inherited disorders affecting the metabolism of phenylalanine. The most common disorder is phenylketonuria (PKU), but the consortium also studies other rare disorders of phenylalanine metabolism, including defects in biopterin synthesis or recycling, or deficiency of the chaperone protein DNAJC12. In partnership with a patient advocacy group, the National PKU Alliance (NPKUA), the consortium provides informational and educational resources to patients, their families, their providers and the public regarding these rare disorders and trains the next generation of rare disease researchers and practitioners. The consortium has formed a clinical trial network with the facile ability to evaluate emerging novel assessment methods or therapies for these diseases. Its goals are to assess the longitudinal outcomes of this patient population and refine and improve current and future therapies for these disorders in phenylalanine metabolism.
Consortium Project Manager: Hadley Morotti, MS
Contact Information: phefree@ohsu.edu
PHEFREE is funded under grant number U54HD100982 as a collaboration between NCATS, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Neurological Disorders and Stroke (NINDS), and the Office of Dietary Supplements (ODS).
Porphyrias Consortium
PC
Porphyrias Consortium
Grant number: U54 DK083909-11
Principal Investigator: Robert J. Desnick, MD, PhD
Lead Institution: Icahn School of Medicine at Mount Sinai
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 symptoms, whereas the latter mainly includes blistering or burning in response to sun exposure. The rarity of these diseases has limited understanding of how they naturally progress and what other factors influence symptoms. The Porphyrias Consortium (PC) brings together experts at six main academic institutions, seven satellite sites, the United Porphyrias Association, and biopharmaceutical companies interested in improving diagnosis and treatment for these diseases. The PC aims to continue studying the characteristics and genetics of the porphyrias; promote development of new biomarkers to track the progression of these diseases; develop and test new treatments; and train the next generation of porphyria clinicians and researchers.
Consortium Project Manager: Mary Freeman
Contact Information: mary.freeman@mssm.edu
The Porphyrias Consortium is funded under grant number U54DK083909 as a collaboration between NCATS and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
Primary Immune Deficiency Treatment Consortium
PIDTC
Primary Immune Deficiency Treatment Consortium
Grant number: U54 AI082973-11
Principal Investigator: Elie Haddad, MD, PhD | Christopher C. Dvorak, MD | Jennifer Puck, MD
Lead Institution: University of California San Francisco
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 47 immunology and transplantation centers throughout the United States and Canada as well as six patient advocacy groups. In its first nine years, the PIDTC has studied clinical features and outcomes following hematopoietic cell transplantation (HCT), gene therapy (GT) and enzyme replacement therapy (ERT) for patients with severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). Primary immunoregulatory disorders (PIRD) were recently added for the current funding cycle. All these diseases were chosen because they are life-threatening and difficult to treat, often requiring HCT for survival. Because no single center follows enough affected individuals to encompass the full spectrum of these disorders, the consortium has been essential to define their natural history and perform robust statistical assessments to address the impact of patient-related variables, such as genotypes and infections, as well as treatment-related variables on clinical outcomes. PIDTC contributions to understanding pathogenesis and defining which treatments produce optimal survival and quality of life have been published in over 100 papers to date. The PIDTC is working to strengthen its infrastructure for multicenter clinical trials so as to apply new knowledge about these primary immunodeficiencies to achieve advances in care, with the goal of improving the lives of people living with these rare medical conditions.
Consortium Project Manager: Elizabeth Dunn, MA
Contact Information: elizabeth.dunn@ucsf.edu
PIDTC is funded under grant number U54AI082973 as a collaboration between NCATS and the National Institute of Allergy and Infectious Diseases (NIAID).
Urea Cycle Disorders Consortium
UCDC
Urea Cycle Disorders Consortium
Grant number: U54 HD061221-16
Principal Investigator: Andrea Gropman, MD
Lead Institution: Children's National Medical Center
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 focusing on research on three major studies as well as pilot studies on innovative diagnostics and therapies.
The three major protocols include a long-term natural history study of patients with UCDs that has been active since 2006; a project investigating sub-clinical seizures in neonates with hyperammonemia and its impact on the development of epilepsy, neurodevelopment and affect brain function and biochemistry; and an MRI study of liver fibrosis as a complication of UCDs. The consortium also continues to train the next generation of rare diseases researchers, provide education on UCDs to health care professionals and the public in partnership with the National Urea Cycle Disorders Foundation, and work with the pharmaceutical/biotechnology industry to develop and test novel medications and treatments to help improve the lives of those affected by UCDs.
Consortium Project Manager: Jennifer Seminara, MPH, CCRP
Contact Information: jseminar@childrensnational.org
UCDC is funded under grant number U54HD061221 as a collaboration between NCATS, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
Vasculitis Clinical Research Consortium
VCRC
Vasculitis Clinical Research Consortium
Grant number: U54 AR057319-16
Principal Investigator: Peter A Merkel, MD, MPH
Lead Institution: University of Pennsylvania
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 research infrastructure for the study of vasculitis. Established in 2003, the various projects of the VCRC have included more than 100 academic medical centers around the world dedicated to the study of vasculitis. The VCRC focuses on conducting clinical trials of new therapies for vasculitis, studying the genetics of these diseases, discovering new blood tests to help monitor and understand these diseases, conducting online research, and training young scientists in the study of vasculitis. The VCRC will continue its efforts to better understand and treat vasculitis by conducting new clinical trials and expanding and utilizing the VCRC Clinical Data Repository, the VCRC Biospecimen Repository, and the VCRC Tissue Repository. All of these activities involve a strong partnership with patients and advocacy groups.
Consortium Project Manager: Carol McAlear, MA
Contact Information: cmcalear@pennmedicine.upenn.edu
VCRC is funded under grant number U54AR057319 as a collaboration between NCATS and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).