Precision Medicine for Early-Onset Low Bone Mineral Density Disorders

Title	Precision Medicine for Early-Onset Low Bone Mineral Density Disorders
Acronym	ProBone
Website	https://www.uke.de/kliniken-institute/institute/osteologie-und-biomechanik/forschung/kfo-5029-probone/index.html
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End date
Sponsor	Deutsche Forschungsgemeinschaft
Institution	University Medical Center Hamburg-Eppendorf
Principal investigator	Dr. rer. nat. Marina Reinsch E-Mail: m.reinsch@uke.de

Associated cell lines

Project Description

With this Clinical Research Unit (ProBone) we want to implement precision medicine for improved diagnosis and personalized treatment of early-onset low BMD disorders. The commonalities within this heterogenous patient group are low BMD values and/or a history of atraumatic fractures before the age of 50 years in the absence of known secondary causes. Given the high disease burden and the severely impaired quality of life, there is a true necessity to understand the respective pathologies at the cellular and molecular level in order to optimize and/or to establish specific treatment for all individuals. At present, these patients are often diagnosed with “idiopathic osteoporosis”, and there are no established guidelines to counteract BMD loss and/or to prevent additional fractures. The major hypothesis of ProBone is that precision medicine will identify a definite disease cause, either genetic or non-genetic, at least for the vast majority of affected individuals. ProBone is primarily based on knowledge obtained by examination of patients admitted to the outpatient clinic of the IOBM, where an established musculoskeletal assessment is applied for a large number of patients (» 10,000 per year). Moreover, the database of the National Bone Board, after being established in 2015, already documented clinical and genetic data for > 1,100 individuals diagnosed with early-onset low BMD, including hypophosphatasia. Since this number is expected to increase by » 100 additional cases per year, ProBone will take advantage of a worldwide unique and exceptionally large cohort of patients which will allow big data analytics to substantially increase the molecular knowledge about low BMD disorders. More specifically, through a multidisciplinary translational research programme involving 9 different institutes/clinics of the University Medical Center Hamburg-Eppendorf (UKE) and the University of Hamburg, ProBone will introduce state-of-the-art technologies and apply a holistic clinical and molecular approach.