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

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Growth Disorders
• Intervention / Treatment: Drug: Somatropin

• Study Type: Interventional
• Enrollment (Actual): 1
• Phase: Phase 2

Contacts and Locations

Study Locations

• United States
  • District of Columbia
    • Washington, District of Columbia, United States, 20010
      • Children's National Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 9 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Growth hormone; The participant will receive escalating dose of growth hormone until an IGF-1 level is maintained between the mean and +2 standard deviations.	Drug: Somatropin; Daily growth hormone at a starting dose of 50 mcg/kg/day and escalating

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Growth Hormone Dose	Dose of growth hormone required in mg/kg/day to achieve an IGF-1 level above the mean	1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Growth Velocity	Growth velocity during 1st year of growth hormone treatment	1 year
Height Standard Deviation Score Using Center for Disease Control (CDC) Growth Chart	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.	Baseline to 1 Year

Collaborators and Investigators

• Sponsor: Children's National Research Institute
• Investigators: Principal Investigator: Andrew Dauber, MD, Children's National Research Institute

Study record dates

Study Major Dates

• Study Start (Actual): August 26, 2022
• Primary Completion (Actual): September 1, 2023
• Study Completion (Estimated): September 1, 2028

Study Registration Dates

• First Submitted: May 16, 2022
• First Submitted That Met QC Criteria: May 16, 2022
• First Posted (Actual): May 19, 2022

Study Record Updates

• Last Update Posted (Actual): July 2, 2025
• Last Update Submitted That Met QC Criteria: June 30, 2025
• Last Verified: June 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Growth Disorders
• Other Study ID Numbers: STUDY00000211

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No