ARRA Investments in Pediatric Rheumatic and Skin Diseases
Public Health Burden
Approximately 300,000 children in the U.S. are affected by juvenile forms of arthritis, such as juvenile idiopathic arthritis (JIA) and other rheumatic diseases. Some conditions, such as lupus, progress much faster in children than in adults, frequently with the most severe manifestations. In addition to being devastating, debilitating diseases, these young patients are faced with a nationwide shortage of specialists in pediatric rheumatology.
Infantile hemangiomas are blood vessel tumors that occur in approximately 10% of infants of mixed European descent. While most hemangiomas are benign and do not usually cause morbidity or mortality, they occasionally impinge on vital structures and can interfere with breathing, vision, eating, or hearing. In addition, large hemangiomas in the skin can result in permanent, significant abnormalities, especially when facial structures are involved.
There are many unmet needs in the treatment of pediatric rheumatic diseases, such as lupus and several types of arthritis. Applying adult disease management strategies to children may cause serious, adverse side effects. However, the conduct of high-quality clinical trials in children is difficult, due to high costs, limited resources, low patient numbers, and ethical concerns. Currently, there is an effective, collaborative, nationwide alliance of pediatric rheumatology researchers, which provides a resource for further studies, as well as a model for clinical research in other pediatric diseases. Projects supported by NIH ARRA funds, which take advantage of this network, include:
Development of a comprehensive research infrastructure for rheumatic diseases in children, including the storage of biological specimens and medical data from a wide range of patients, and an informatics framework to facilitate the use of these data in future basic, translational, and clinical research studies.
Creation of a framework for comparative effectiveness research in pediatric rheumatology, for the development and distribution of study protocols to multiple research sites. In addition, establishment of an infrastructure for uniform data collection will accelerate subsequent studies, towards the development of safe and effective treatments.
Initiation of an infantile hemangioma research platform, such as the development of tools to standardize the classification of disease severity and measure response to treatments, including quality-of-life outcomes. These critical instruments are essential to future clinical studies.
Although some treatments are available for pediatric rheumatic and skin diseases, not all patients respond to them. In addition, there are still many unknown factors concerning disease risk and progression. For development of more diagnostic and therapeutic approaches, NIH ARRA funds also support fundamental research projects, such as:
Genome analysis of blood samples from well-characterized JIA patients, to elucidate the genetic underpinnings of the disease, including those associated with specific disease subtypes.
Investigation of the role of a biological molecule in JIA pathogenesis that inhibits a protective, immune system molecular messenger, including studies in therapeutic development to regulate this inhibitor.
-- CARRA: Accelerating Toward an Evidence-Based Culture in Pediatric Rheumatology -- Ilowite, Norman (NY), Sandborg, Christy (CA), Schanberg, Laura (NC) (contact), Wallace, Carol (WA)
-- Comparative Effectiveness Research in Pediatric Rheumatic Diseases: Leveraging CARRA -- Ilowite, Norman (NY), Wallace, Carol (WA) (contact)
-- Severity Scale and Quality of Life Instrument for Infantile Hemangiomas -- Haggstrom, Anita (IN)
, -- Genetics of Juvenile Idiopathic Arthritis -- Finkel, Terri (PA), Hakonarson, Hakon (PA) (contact); 1RC1AR058587-01 -- Defining the Complex Genetics of JIA -- Thompson, Susan (OH)
-- PARP-1 in Juvenile Idiopathic Arthritis-Associated IL-10 Promoter Polymorphisms -- Liu, Jianguo (MO)
Page Last Updated on June 30, 2018
Turning Discovery Into Health