Massachusetts General Hospital

Overview

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.

Group Members

• Michael Mannstadt, MD
• Elizabeth Petit, BA
• Wenping Zhao, PhD
• Adam Roy, BA

Research Projects

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.

Clinical Trials

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)

Publications

View recent publications from the laboratory. Some full text articles may require a subscription.

View all Publications in PubMed

Endocrine Research: Mannstadt Laboratory

Phone: 617-726-3966
Fax: 617-726-7543
Email: mmannstadt@partners.org

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