Prader-Willi Syndrome
Conditions
Keywords
Prader-Willi syndrome, Growth hormone, Body composition, Cardiovascular disease
Brief summary
The overall objective of this study is to measure the effect of growth hormone (GH) treatment on physical and psychosocial health in adults with Prader-Willi syndrome. Adults with PWS who have not been treated with GH during the past three years and who will start with GH treatment as part of regular patient care will be asked for informed consent to participate in this open-label prospective cohort study. We hypothesize that growth hormone treatment will improve the physical and psychosocial health.
Detailed description
OBJECTIVES: To measure the effect of GHt on physical and psychosocial health in adults with PWS. The primary endpoint is change in lean body mass (LBM (kg)) as assessed by Dual Energy X-ray Absorptiometry (DEXA) scan. Secondary endpoints are total fat mass, bone density, physical health and psychosocial health. Also the occurrence of side-effects will be assessed. Only data that are collected as part of regular patient care will be used. STUDY DESIGN: Open-label prospective cohort study. STUDY POPULATION: Adults with PWS who have not been treated with GH during the past three years and who will start with GHt as part of regular patient care.
Interventions
None listed
Sponsors
Foundation for Prader-Willi Research
Prader-Willi Fonds
Erasmus Medical Center
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* The patient is diagnosed with Prader-Willi syndrome (genetically confirmed)
Exclusion criteria
* Non cooperative behaviour * Pregnancy * Known malignancies * Poorly controlled diabetes (HbA1c \> 64 mmol/mol (8%)) * Untreated obstructive sleep apnea (apnea-hypopnea index \> 5) * Body mass index above 40 kg/m2 * Upper-airway obstruction of any cause
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in lean body mass | 36 months | Change in lean body mass (in kg) as measured by Dual Energy X-ray Absorptiometry scan |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in physical strength | 36 months | Change in physical strenght as measured by handgrip dynamometer and sit-to-stand tests |
| Change in laboratory measurements | 36 months | Changes in the following laboratory measurements: * Glycosylated hemoglobin (mmol/mol) * Total cholesterol (mmol/L) * Low-density lipoprotein cholesterol (mmol/L) * High-density lipoprotein cholesterol (mmol/L) * Insulin-like growth factor 1 (nmol/L) * Free thyroxine 4 (pmol/L) * Luteinizing hormone (U/I) * Follicle stimulating hormone (U/I) * Estradiol or testosterone (nmol/L) * Sex hormone binding globulin (nmol/L) * Aspartate transaminase (U/L) * Alanine transaminase (U/L) * Alkaline phosphatase (U/L) * Gamma glutamyl transpeptidase (U/L) * Total bilirubin (micromol/L) * Lactate dehydrogenase (U/L) * Urea (mmol/L) * Creatinine (micromol/L) * Hemoglobin (mmol/L) * Hematocrit (L/L) * Mean corpuscular volume (fL) * Leukocytes (10\^9/L) * Thrombocytes (10\^9/L) * 25-OH vitamin D (nmol/L) |
| Change in psychosocial functioning | 36 months | Change in psychosocial functioning as estimated with the Adult Behaviour Checklist |
| Change in caregiver burden | 36 months | Change in caregiver burden as estimated with the Zarit Burden Interview |
| Change in fat mass | 36 months | Change in fat mass (in kg) as measured by Dual Energy X-ray Absorptiometry scan |
| Change in bone density | 36 months | Change in bone density (in T-score) as measured by Dual Energy X-ray Absorptiometry scan |
Other
| Measure | Time frame | Description |
|---|---|---|
| Occurence of side-effects | 36 months | Occurrence of side-effects |
| Change in weight and waist-hip ratio | 36 months | Change in weight (in kg) and waist-hip ratio |
| Change in blood pressure | 36 months | Change in blood pressure (in mmHg) |
Countries
Netherlands
Contacts
Primary ContactLaura de Graaff, MD, PhD
Backup ContactTrui van Essen, MD
Outcome results
None listed