The Endocrine Rare Metabolic Diseases research group conducts clinical trials and other clinical research studies in both rare and common metabolic musculoskeletal diseases as well as other endocrine conditions across the lifespan from pediatric to adults. These include clinical trials in osteoporosis and congenital adrenal hyperplasia as well as studies of musculoskeletal complications of various chronic conditions such as cystic fibrosis.
Members of IU School of Medicine faculty, including Drs. Michael Econs, Kenneth White and Erik Imel, identified critical aspects of the regulation and pathophysiology of Fibroblast growth factor 23 (FGF23) to multiple conditions including X-linked hypophosphatemia, Autosomal dominant hypophosphatemic rickets, and the relationship of iron deficiency to FGF23 related pathology. These continue to be subjects of ongoing clinical and basic research at IU. Erik Imel, MD, was a leader of multi center clinical trials of novel drug therapy for X-linked hypophosphatemia (XLH) leading to FDA approval of burosumab for XLH. Investigators in the Endocrine Rare Metabolic Diseases research group are conducting ongoing studies in osteoporosis, XLH, congenital adrenal hyperplasia and other conditions.
The Endocrine Rare Metabolic Diseases research group is a component of the larger Indiana Center for Musculoskeletal Health which includes collaborations between clinical and basic science investigators across many disciplines working to advance science and clinical care.
Michael Econs, MD, studies the genetic aspects of metabolic bone disease. In this regard, he performs clinical, translational and basic studies of metabolic bone disorders. His lab discovered the hormone FGF23 and their work led to new therapies for X-linked hypophosphatemic rickets, tumor induced osteomalacia, and autosomal dominant hypophosphatemic rickets. His lab is working on clinical and translational studies to find a therapy for autosomal dominant osteopetrosis and they have a major ongoing effort in the genetics of osteoporosis.
Erik Imel, MD, conducts clinical research trials in osteoporosis, XLH and congenital adrenal hyperplasia (CAH). He also conducts health informatics studies of outcomes of osteoporosis, sarcopenia and other musculoskeletal conditions using real world clinical data through the resources of the Regenstrief Institute and machine learning models.
