NCT05382637

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

Active, enrolled Phase 2 Results posted Last updated 2 July 2025

What this trial tests

Phase 2 trial testing Somatropin in Growth Disorders in 1 participant. Participants enrolled and being followed up; not accepting new ones.

Timeline

26 August 2022

Primary endpoint
1 September 2023

1 September 2028

Quick facts

Lead sponsor	Children's National Research Institute
Phase	Phase 2
Status	Active, enrolled
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	treatment
Enrollment	1
Start date	26 August 2022
Primary completion	1 September 2023
Estimated completion	1 September 2028
Sites	1 location across United States

Drugs / interventions tested

• Somatropin (Somatropin) — full drug profile →

Conditions studied

• Growth Disorders — all drugs for Growth Disorders →

Sponsor

Children's National Research Institute

Who can join

9 and older, male only, with Growth Disorders. Patients with the condition only — healthy volunteers not accepted.

Results — posted to ClinicalTrials.gov

Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.

Growth Hormone Dose Primary · 1 year

Dose of growth hormone required in mg/kg/day to achieve an IGF-1 level above the mean

Group	Value	95% CI
Growth Hormone	0.250

Growth Velocity Secondary · 1 year

Growth velocity during 1st year of growth hormone treatment

Group	Value	95% CI
Growth Hormone	8.7

Height Standard Deviation Score Using Center for Disease Control (CDC) Growth Chart Secondary · Baseline to 1 Year

Change in age and sex adjusted height standard deviation score based on the US CDC growth charts over the course of the 1st year of treatment with growth hormone. Height standard deviation score based on the US CDC growth chart data. The CDC provides tables of both height percentiles and standard deviations of the distribution of heights by age and sex. The CDC has a SAS program that allows for calculation of an individual's height standard deviation score based on the population data. This is the standard way that height is recorded in many growth studies.

Group	Value	95% CI
Growth Hormone	0.81

Sponsor's own description

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.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

1. A Clinical Trial of High-Dose Growth Hormone in a Patient With a Dominant-Negative Growth Hormone Receptor Mutation.
   Merchant N, Houchin L, Boucher K, Dauber A. · · 2024 · PMID 38597155 · DOI 10.1210/clinem/dgae244