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

Children's National

Status and phase: Active, not recruiting; Phase 2

Conditions: Growth Disorders

Treatments: Drug: Somatropin

Study type: Interventional

Funder types: Other

Identifiers

NCT05382637

STUDY00000211

Details and patient eligibility

About

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.

Enrollment: 1 patient

Sex: Male

Ages: 9+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1 participants in 1 patient group

Growth hormone

Experimental group

Description:

The participant will receive escalating dose of growth hormone until an IGF-1 level is maintained between the mean and +2 standard deviations.

Treatment:

Drug: Somatropin