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 Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
1
Daily growth hormone at a starting dose of 50 mcg/kg/day and escalating
Children's National Hospital
Washington D.C., District of Columbia, United States
Growth Hormone Dose
Dose of growth hormone required in mg/kg/day to achieve an IGF-1 level above the mean
Time frame: 1 year
Growth Velocity
Growth velocity during 1st year of growth hormone treatment
Time frame: 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.
Time frame: Baseline to 1 Year
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