Prader-Willi Syndrome
Conditions
Brief summary
The main research question this protocol aims to answer is whether treatment with growth hormone will impact body composition, quality of life, and energy balance in PWS adults, and if there is a loss of effects after cessation of treatment for at least 12 months.
Detailed description
The main research question this protocol aims to answer is whether treatment with growth hormone will impact body composition, quality of life, and energy balance in PWS adults, and if there is a loss of effects after cessation of treatment for at least 12 months. Specific outcomes to be evaluated are as follows: • Increased IGF-1 as a function of human growth hormone dosage compared with baseline. 1. Improvement of indicators or risk factors for co-morbid diseases \[diabetes (by measuring insulin and glucose levels), cardiovascular disease (by measuring lipids and fatty acids), and pulmonary function\] in participants. 2. Improvement in quality of life measures as indicated by ratings on established behavior checklists in participants. 3. Changes in body composition (decreased fat, increased lean body mass and bone density) as determined by DEXA in participants. 4. Increased energy expenditure as determined by whole-room calorimeter measures (8 hour energy expenditure, RMR, TEF, mechanical work); diet records, physical activity monitors and strength measures.
Interventions
DRUGNutropin AQ
0.0125 mg/kg/day
Sponsors
Children's Mercy Hospital Kansas City
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
16 Years to 60 Years
Healthy volunteers
No
Inclusion criteria
* 16 to 60 years old * Male or female with diagnosed Prader-Willi syndrome confirmed by genetic testing (e.g., mPCR) * Low IGF-1 level (e.g.,≤25%) at baseline * Ability to provide informed consent or availability of a suitable legally authorized representative
Exclusion criteria
* Pregnancy * Previous treatment with growth hormone * Uncontrolled endocrine disease, (i.e. diabetes or thyroid) * History of severe scoliosis * Heart disease * Uncontrolled high blood pressure or history of stroke * Morbid obesity (using PWS growth charts) * Severe sleep apnea or known breathing difficulties/obstruction (as per history or diagnostic testing results
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Body Composition | 12 and 24 months | Anthropometric Measures and Body Composition |
| Blood Chemistry | 12 and 24 months | Insulin-like growth factor I- IGF-1 |
| Physical Activity | 12 and 24 months | Duration of daily physical activity |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Primary Cohort Nutropin AQ: 0.0125 mg/kg/day | 11 |
| Total | 11 |
Baseline characteristics
| Characteristic | Primary Cohort |
|---|---|
| Age, Continuous | 32.3 years STANDARD_DEVIATION 11.1 |
| 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 | 11 Participants |
| Sex: Female, Male Female | 6 Participants |
| Sex: Female, Male Male | 5 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | — / — |
| other Total, other adverse events | 0 / 11 |
| serious Total, serious adverse events | 1 / 11 |
Outcome results
Primary
Blood Chemistry
Insulin-like growth factor I- IGF-1
Time frame: 12 and 24 months
Population: All patients enrolled
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Primary Cohort | Blood Chemistry | Baseline | 93 ng/ml | Standard Deviation 37.6 |
| Primary Cohort | Blood Chemistry | 12 months | 385 ng/ml | Standard Deviation 48.6 |
| Primary Cohort | Blood Chemistry | 24 Months | 140 ng/ml | Standard Deviation 53.1 |
p-value: <0.05Mixed Models Analysis
Primary
Body Composition
Anthropometric Measures and Body Composition
Time frame: 12 and 24 months
Population: All patients enrolled
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Primary Cohort | Body Composition | 24 Months | 52.1 percentage of body fat | Standard Deviation 2.3 |
| Primary Cohort | Body Composition | Baseline | 51.2 percentage of body fat | Standard Deviation 2.1 |
| Primary Cohort | Body Composition | 12 Months | 48.5 percentage of body fat | Standard Deviation 2.2 |
p-value: <0.05Mixed Models Analysis
Primary
Physical Activity
Duration of daily physical activity
Time frame: 12 and 24 months
Population: All patients enrolled
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Primary Cohort | Physical Activity | Baseline | 177 Minutes per Day | Standard Deviation 27 |
| Primary Cohort | Physical Activity | 12 Months | 256 Minutes per Day | Standard Deviation 33 |
| Primary Cohort | Physical Activity | 24 Months | 215 Minutes per Day | Standard Deviation 49 |
p-value: <0.05Mixed Models Analysis