Parathyroid glands produce parathyroid hormone (PTH), which is necessary for calcium regulation and bone health. In families with insufficient parathyroid gland activity (hypoparathyroidism), we have identified mutations in genes that are important for the development and function of parathyroid glands. The characterization of these mutations will help improve our understanding of parathyroid-gland biology.
Dr. Mannstadt is principal investigator for clinical trials involving the use of PTH in hypoparathyroidism.
The Molecular Basis of Hypoparathyroidism
GCMB is a transcription factor that is essential for the development of parathyroid glands. Our previous work showed that heterozygous mutations in GCMB cause a familial form of hypoparathyroidism. We are currently investigating target genes for this transcription factor, as well as the role of the continued expression of this transcription factor, in adult parathyroid tissue.
Genetic causes of hypophosphatemia and the role of FGF23
We are also investigating the role of FGF23 in oncogenic osteomalacia and chronic renal failure, and we are currently conducting genetic studies to identify causes of inherited hypophosphatemic rickets.
A 12-Month Open-label Study Investigating the Safety and Tolerability of NPSP558, a Recombinant Human Parathyroid Hormone (rhPTH [1-84]), for the Treatment of Adults With Hypoparathyroidism - A Clinical Extension Study (RACE)
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