Phosphate is an important component of bones and keeps them strong. Genetic disorders of phosphate metabolism, have long been a research focus of Yale School of Medicine’s pediatric and adult endocrinologists. Clemens Bergwitz, MD, of the Yale Bone Center, and collaborators in the Bergwitz lab, are currently recruiting patients with X-linked hypophosphatemia (XLH) and hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
The clinical study will help researchers determine whether current standard-of-care with phosphate supplementation is safe, or whether this therapy has long-term consequences for cardiovascular, vascular and renal health. Individuals who agree to participate will spend two half-days at the Yale Center for Clinical Investigation in New Haven for blood, urine, and non-invasive vascular and sonographic studies to determine the acute and long-term response to phosphate supplementation. For more information, please see the study description, or email the principle investigator, Clemens Bergwitz, MD.
Yale’s Section of Endocrinology & Metabolism works to improve the health of individuals with endocrine and metabolic diseases by advancing scientific knowledge; applying new information to patient care; and training the next generation of physicians and scientists to become leaders in the field. To learn more about their work, visit Endocrinology & Metabolism.