Growth Hormone in a Patient With a Dominant-Negative GHR Mutation
Status:
Not yet recruiting
Trial end date:
2023-09-01
Target enrollment:
Participant gender:
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.