Replacing parathyroid hormone (PTH) when the parathyroid has been damaged or is otherwise not viable is critical. Children born without parathyroid glands can die within 2 years without this hormone. Adults who lose function can develop a range of health issues, including hypercalciuria and nephrocalcinosis. The NICHD has focused on finding more viable alternatives to PTH and more efficacious delivery systems for them.
Institute Activities and Advances
The basic and clinical endocrine research facilities at the NIH are among the most extensive and highly regarded in the world. The NICHD plays a leading role in hypoparathyroidism research, mainly through its branches working in areas relating to endocrinology.
The NICHD’s Pediatric and Reproductive Endocrinology Branch within the Division of Intramural Research (DIR) focuses on the physiology and pathophysiology of growth, development, metabolic, immune, and reproductive functions in areas that include the hypothalamic-pituitary-adrenal and hypothalamic-pituitary-gonadal axes. These two axes include organs located in the neck, chest, and groin. In addition, DIR scientists are actively recruiting patients into clinical trials on mineral metabolism disorders, especially parathyroid disease.
Relevant research also is conducted by the Institute’s Pediatric Growth and Nutrition Branch (PGNB), which seeks to identify and understand endocrine disorders on molecular and genetic levels. One of Institute’s key goals is to ensure that the growing understanding of the endocrinology of hypoparathyroidism coordinates with its ability to translate this knowledge into application. For example:
- PGNB researchers have consistently shown that a synthetic parathyroid hormone—known as PTH 1-34—can offer multiple advantages over the currently approved calcium/vitamin D regimens. The scientists continue seeking to establish PTH 1-34 as a viable treatment option.
- Investigators are examining PTH pump delivery versus oral delivery and investigating smoother metabolic controls through arranging delivery frequency.
- The Branch is supporting a variety of other projects relating to pediatric hormone deficiencies, including a unique animal model involving animal hormones.
Other Activities and Advances
During the past decade, the PGNB has been instrumental in establishing a collaboration with the Lawson Wilkins Pediatric Endocrine Society to create the national Study Network of Pediatric Endocrinology (SNoPE). The network focuses on bringing together experts who can implement improving therapeutic options for children with relatively rare endocrine disorders, including Complete DiGeorge anomaly (cDGA).