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

NCT05382637 | Active Not Recruiting Phase 2 Results FDA Drug

• 1 other identifier: STUDY00000211
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Growth Disorders

Outcome Measures

Primary Outcomes (1)

• Growth Hormone Dose

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

  1 year

Secondary Outcomes (2)

• Growth Velocity

  1 year

• Height Standard Deviation Score Using Center for Disease Control (CDC) Growth Chart

  Baseline to 1 Year

Study Arms (1)

Growth hormone

EXPERIMENTAL

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

Interventions

Somatropin DRUG

Daily growth hormone at a starting dose of 50 mcg/kg/day and escalating

Growth hormone

Eligibility Criteria

• Age: 9 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Provision of signed and dated informed consent form
• Stated willingness to comply with all study procedures and availability for the duration of the study
• Be the specific subject with the a specific mutation in GHR leading to high GHBP.

Sponsors & Collaborators

• Children's National Research Institute: lead

Study Sites (1)

Children's National Hospital

Washington D.C., District of Columbia, 20010, United States

Location

MeSH Terms

Conditions

Growth Disorders

Interventions

Human Growth Hormone

Condition Hierarchy (Ancestors)

Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Growth Hormone; Pituitary Hormones, Anterior; Pituitary Hormones; Peptide Hormones; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists; Peptides; Amino Acids, Peptides, and Proteins

Results Point of Contact

• Title: Andrew Dauber, MD
• Organization: Children's National Hospital

adauber@childrensnational.org

202-476-2121

Study Officials

• Andrew Dauber, MD

  Children's National Research Institute

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief of Endocrinology

Study Record Dates

• First Submitted: May 16, 2022
• First Posted: May 19, 2022
• Study Start: August 26, 2022
• Primary Completion: September 1, 2023
• Study Completion (Estimated): September 1, 2028
• Last Updated: July 2, 2025
• Results First Posted: July 2, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)