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

STUDY00000211

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.

2022-08-26

2023-09-01

2028-09-01

Active (not recruiting)

Early phase I

1

Inclusion Criteria: 1. Provision of signed and dated informed consent form 2. Stated willingness to comply with all study procedures and availability for the duration of the study 3. Be the specific subject with the a specific mutation in GHR leading to high GHBP. Exclusion Criteria: There are no exclusion criteria for this study.

{'studyType': 'INTERVENTIONAL', 'phases': ['PHASE2'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'primaryPurpose': 'TREATMENT', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 1, 'type': 'ACTUAL'}}

2024-02-13