Growth Disorders
Conditions
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.
Interventions
DRUGSomatropin
Daily growth hormone at a starting dose of 50 mcg/kg/day and escalating
Sponsors
Children's National Research Institute
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
9 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Growth Hormone Dose | 1 year | Dose of growth hormone required in mg/kg/day to achieve an IGF-1 level above the mean |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Growth Velocity | 1 year | Growth velocity during 1st year of growth hormone treatment |
| Height Standard Deviation Score Using Center for Disease Control (CDC) Growth Chart | 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. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| 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.
Somatropin: Daily growth hormone at a starting dose of 50 mcg/kg/day and escalating | 1 |
| Total | 1 |
Baseline characteristics
| Characteristic | Growth Hormone |
|---|---|
| Age, Categorical <=18 years | 1 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 0 Participants |
| Age, Continuous | 9.75 years |
| Baseline Height standard deviation score | -3.18 Standard deviation score from the CDC |
| Ethnicity (NIH/OMB) Hispanic or Latino | 0 Participants |
| Ethnicity (NIH/OMB) Not Hispanic or Latino | 1 Participants |
| Ethnicity (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants |
| Race (NIH/OMB) Asian | 0 Participants |
| Race (NIH/OMB) Black or African American | 0 Participants |
| Race (NIH/OMB) More than one race | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race (NIH/OMB) White | 1 Participants |
| Region of Enrollment United States | 1 participants |
| Sex: Female, Male Female | 0 Participants |
| Sex: Female, Male Male | 1 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 0 / 1 |
| other Total, other adverse events | 0 / 1 |
| serious Total, serious adverse events | 0 / 1 |
Outcome results
Primary
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
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Growth Hormone | Growth Hormone Dose | 0.250 mg/kg/day |
Secondary
Growth Velocity
Growth velocity during 1st year of growth hormone treatment
Time frame: 1 year
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Growth Hormone | Growth Velocity | 8.7 cm/year |
Secondary
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
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Growth Hormone | Height Standard Deviation Score Using Center for Disease Control (CDC) Growth Chart | 0.81 Standard deviations |