Scientists have discovered about 7,000 rare diseases, which makes them a major health challenge. When all the rare diseases are combined, an estimated 25 to 30 million people in the U.S are living with a rare disease which means that about one of every nine people are afflicted with a rare disease.
Researchers have struggled for decades to gather needed information from the small number of widely scattered patients who may have a particular rare disease. As a result, Congress passed a law in 2002, authorizing several agencies within NIH to launch the “Rare Diseases Clinical Research Network” (RDCRN) https://www.rarediseasesnetwork.org .
The network has grown to support hundreds of studies focused on specific types of disease. This research is conducted at more than 350 sites in the U.S and more than 50 sites in 22 other countries.
One of the sites is the “Consortium of Eosinophilic Gastrointestinal Disease Researchers” (CEGIR) which is based at Cincinnati Children’s https://www.cincinnatichildrens.org. Just recently, a five year, $28 million grant from the “National Center for Advancing Translational Sciences” (NCATS) https://ncats.nih.gov within NIH, named Cincinnati Children’s as the new data management and coordinating center. This funding is the largest amount ever received by Cincinnati Children’s
The new role for Cincinnati Children’s will not only entail managing and coordinating data, but the hospital will also serve as a learning center to help scientists share best practices on how to conduct rare disease research.
One of the main goals for the hospital is to serve as the major conduit of research information from the network to the scientific community to include regulatory agencies, the pharmaceutical industry, physicians, patients, and families.
For the past five years, Baylor College of Medicine http://www.bcm.edu has received $7 million in grant funding from NIH to lead the “Brittle Bone Disorders Consortium” (BBDC) within RDCRN. The goal has been to advance the study and treatment of Osteogenesis Imperfecta (OI), a genetic disorder affecting both children and adults characterized by brittle bones that break easily.
Baylor College of Medicine serves as the lead site of the 14 center BBDC. Baylor researches are leading a longitudinal study to map out the natural history of the disease. For the last five years, BBDC has enrolled nearly 1,000 patients in North America to study disease progressions.
The research has produced the first therapy that can target the cause of brittle bone disease rather than the consequences .Researchers have found that activation of a protein important in bone formation is a common factor among osteogenesis imperfecta patients.
FDA recently awarded 12 grants totaling more than $15 million over the next four years to fund new clinical trials to advance the development of medical products to use to treat rare diseases.
FDA awarded the grants through the “Orphan Products Clinical Trials Grant Program” https://industry/developing-products-rare-diseases-conditions/orphan-products-clinical-trials-grants-program to encourage clinical development of drugs, biologics, medical devices, and medical foods for treating rare diseases.