Prader-Willi Syndrome
Conditions
Keywords
Growth Hormone, Functional Magnetic Resonance, Strength, Body composition
Brief summary
Prader-Willi syndrome (PWS) is a genetic disorder associated with growth hormone (GH) deficiency, central hypotonia and hyperphagia that leads to life-threatening obesity. Treatment with GH in adult patients is not well stablished in guidelines of Health National System (HNS). The investigators has experience in the study of brain connectivity in these patients in relation to satiety. To date, there is no evidence about the effect of GH on central hypotonia (brain areas related with muscle tone maintenance). So, the main objective is to examine these anatomical areas before and one year after GH treatment. Methodology: Structural and functional magnetic resonance imaging to 30 PWS patients before and after GH treatment and we will compare them to a control group. Expected results: PWS group will show abnormal functional and structural connectivity in circuitry of muscle tone maintenance that will improve after GH treatment. These favorable changes and the absence of secondary effects will help to justify the use of this treatment and its inclusion in practical clinical guidelines of HNS for the management of this syndrome in the adulthood.
Interventions
DRUGGrowth hormone
12 months on Growth hormone, initial dose 0,2 mg per day, then adjusted by insulin like growth factor (IGF-1) level
DRUGPlacebo
2 months on placebo, sodium chloride 0,9% injections
Sponsors
Parc de Salut Mar
Corporacion Parc Tauli
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
First phase: 2m with placebo Second phase: 12 m with growth hormone
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* PWS \>=18 years with growth hormone deficit * Signed informed consent by the patients or their legal guardian
Exclusion criteria
* Severe obesity * No controled diabetes mellitus * No treated obstructive sleep apnea or severe obstructive sleep apnea * Active cancer * Active psychosis
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Examine brain connectivity areas related with muscle tone maintenance | 24 months | Examine brain connectivity areas related with muscle tone maintenance making a functional MRI while the subject is making motor maneuvers, before anf after 12 months on GH treatment. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Evaluation of strength | 24 months | Evaluation of strength before and after 12 months on GH treatment |
| Evaluation of body composition | 24 months | Evaluation of body composition by Dual energy x-ray absorptiometry (DEXA) before and after 12 months on GH treatment |
Countries
Spain
Outcome results
None listed