Growth Hormone in a Patient With a Dominant-Negative GHR Mutation

Summary

This is a prospective interventional study designed for a single patient with a dominant-negative mutation in the growth hormone receptor gene (GHR) which results in increased levels of growth hormone binding protein (GHBP). The patient will receive escalating doses of growth hormone titrated to achieve an insulin like growth factor-1 level above the mean and then growth response to therapy will be monitored.

Timeline

Start

2022-08-26

Primary completion

2023-09-01

Completion

2028-09-01

Publications

• Merchant N, Houchin L, Boucher K, Dauber A. A Clinical Trial of High-Dose Growth Hormone in a Patient With a Dominant-Negative Growth Hormone Receptor Mutation. J Clin Endocrinol Metab. 2024 Oct 15;109(11):2937-2942. doi: 10.1210/clinem/dgae244.

Drugs

Indications