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So one of the lasting impacts of the rare disease registries are to create the global community that didn't exist 30 years ago and there's a legacy there that will continue as we move forward and will continue on for years to come. Rare diseases by their very nature are extremely isolating for both patients and for clinicians. The registry is also the people who are asking the important research questions to be able to elucidate the questions that we don't know about a specific disease and to be able to meet those unmet medical needs for the patient community. A registry is also the clinicians, the nurses, the genetic counselors, the physicians who are entering these data into the system. So first and foremost the patients, the patients who provide their invaluable data to become that global community. A registry is much more than just a database. MPS-II is a rare, progressive, genetic lysosomal storage disorder that affects many parts of the body including the airways, head, heart, brain, spleen. This can be extremely impactful for families, for clinicians and for the patient to anticipate and understand how that patient might do over time. In order to further understanding for the disease community, because registries run for many years, we can understand more about the long-term disease course and we can also understand more about the long-term effects of treatment. It's really powerful for patients and physicians and scientists to be able to bring all of those experiences together and to create shared knowledge. Rare disease registries are open structured studies and they can enroll individuals all over the world in order to share their stories and their experiences. So what a rare disease registry can provide is that it can provide a global community for each and every one of those patients. They often have a feeling of being the only one who is responsible for explaining their disease to their own physicians. Studies a U.S.For people who are diagnosed with rare disease, they often have a feeling of isolation. Eventually the data will be available to researchers on the database of Genotypes and Phenotypes ("dbGaP"), a part of National Center for Biotechnology Information, U.S. The study's data will be input to the Data Management and Coordinating Center ("DMCC"), which is a part of the NIH-funded Rare Diseases Clinical Research Network. Individual Participant Data (IPD) Sharing Statement: Layout table for additonal informationĠ905M65804 ( Other Identifier: Univ. Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I. Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, Ahmed A, King KE, Yund BD, Cowan MJ, Raiman J, Mamak EG, Harmatz PR, Shankar SP, Ali N, Cagle SR, Wozniak JR, Lim KO, Orchard PJ, Whitley CB, Nestrasil I. to examine how treatments such as Enzyme Replacement Therapy (ERT), Hematopoietic Cell Transplant (HCT), substrate reduction, and other palliative and rehabilitative therapies differentially affect CNS structure and function, as well as the subject's quality of life.Independent variables may include, but are not limited to: age at first treatment, severity of disease, types of medical abnormalities, nature of genetic mutation, medical events, and sensory abnormalities. to examine the degree to which independent variables have an impact on both functional and structural outcome.to develop quantitative measurements of change, including direct measurement of neuropsychological function surrogate MRI markers and biomarkers to measure stage of disease and treatment outcomes.The investigators will accomplish this through longitudinal studies of enrolled patients in designated centers in North America. to identify abnormalities of central nervous system (CNS) structure and function as well as to measure quality-of-life (QOL) in both treated and untreated MPS patients over time.

This research addresses the brain abnormalities in the MPS disorders, about which little is known. Recent treatment advances have produced amelioration of some of these malfunctions, but notably brain and bone have been difficult to effectively treat. The mucopolysaccharidoses (MPS diseases) are lysosomal disorders (inborn errors of metabolism) that progressively affect most organ systems in the body, usually beginning in childhood. Why Should I Register and Submit Results?.