Assessment of CAI in Adults With PWS.

Study Overview
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Brief Summary
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Introduction: The prevalence and clinical significance of central adrenal insufficiency (CAI) in adult patients with Prader Willi Syndrome (PWS) remains unclear. Aim: To assess the prevalence of CAI in adults with PWS and to analyse the effects of replacement therapy with hydrocortisone (HCT) in patients with suspected CAI. Material and Methods: Twenty one adult patients with PWS were evaluated. Based on peak cortisol at the 30 minute of the high dose short Synacthen test (HDSST), patients were divided into three groups: CAI (central adrenal insufficiency) - peak cortisol <500nmol/L, intermediate (partial AI) - peak cortisol ≥500 nmol/L and <600 nmol/L and AS (adrenal sufficiency) - peak cortisol ≥ 600 nmol/L. In patients with diagnosed CAI HCT replacement treatment was initiated. Body weight, body fat percentage, signs, and symptoms of CAI were evaluated after 6 and 12 months of treatment.

Official Title
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Assessment of Central Adrenal Insufficiency in Adults With Prader-Willi Syndrome.

Conditions
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Central Adrenal Insufficiency, Prader-Willi Syndrome

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: PWS age >=18 years Exclusion Criteria: age <18 years GC treatment at last 6 months

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 26 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The prevalence of CAI in adult PWS patients based on HDSST. | The diagnosis of CAI was based on the high-dose short Synacthen test (HDSST). The following cut-off points were used: CAI group (suspected CAI): • cortisol < 500 nmol/L at the 30th minute AS group (adrenal sufficiency - CAI excluded): • cortisol ≥ 600 nmol/L at the 30th minute Intermediate group • cortisol ≥500 nmol/L and <600 nmol/L at the 30th minute | At first visit (before HCT treatment). | 
| Symptoms of CAI before hydrocortisone substitution: fatigue | Incidence of the fatigue in the CAI, intermediate and the AS groups. | Before HCT treatment | 
| Symptoms of CAI after 6 month hydrocorisone treatment: fatigue | Incidence of the fatigue in the CAI, intermediate and the AS groups. | After 6 month HCT treatment | 
| Symptoms of CAI after 12 month hydrocorisone treatment: fatigue | Incidence of the fatigue in the CAI, intermediate and the AS groups. | After 12 month HCT treatment | 
| Symptoms of CAI before hydrocortisone substitution: loss of appetite | Incidence of loss of appetite in the CAI, intermediate and the AS groups. | Before HCT treatment | 
| Symptoms of CAI after 6 month hydrocorisone treatment: loss of appetite | Incidence of loss of appetite in the CAI, intermediate and the AS groups. | After 6 month HCT treatment | 
| Symptoms of CAI after 12 month hydrocorisone treatment: loss of appetite | Incidence of loss of appetite in the CAI, intermediate and the AS groups. | After 12 month HCT treatment | 
| Symptoms of CAI before hydrocortisone substitution: muscle weakness | Incidence of the muscle weakness in the CAI, intermediate and the AS groups. | Before HCT treatment | 
| Symptoms of CAI after 6 month hydrocortisone treatment: muscle weakness | Incidence of the muscle weakness in the CAI, intermediate and the AS groups. | After 6 month HCT treatment | 
| Symptoms of CAI after 12 month hydrocortisone treatment: muscle weakness | Incidence of the muscle weakness in the CAI, intermediate and the AS groups. | After 12 month HCT treatment | 
| Symptoms of CAI before hydrocortisone substitution: myalgia | Incidence of the myalgia in the CAI, intermediate and the AS groups. | Before HCT treatment | 
| Symptoms of CAI after 6 month hydrocorisone treatment: myalgia | Incidence of the myalgia in the CAI, intermediate and the AS groups. | After 6 month HCT treatment | 
| Symptoms of CAI after 12 month hydrocorisone treatment: myalgia | Incidence of the myalgia in the CAI, intermediate and the AS groups. | After 12 month HCT treatment | 
| Symptoms of CAI before hydrocortisone substitution: arthralgia | Incidence of the arthralgia in the CAI, intermediate and the AS groups. | Before HCT treatment | 
| Symptoms of CAI after 6 month hydrocorisone treatment: arthralgia | Incidence of the arthralgia in the CAI, intermediate and the AS groups. | After 6 month HCT treatment | 
| Symptoms of CAI after 12 month hydrocorisone treatment: arthralgia | Incidence of the arthralgia in the CAI, intermediate and the AS groups. | After 12 month HCT treatment | 
| Symptoms of CAI before hydrocortisone substitution: weight loss | Incidence of the weight loss (>3 kg) in the CAI, intermediate and the AS groups. | Before HCT treatment | 
| Symptoms of CAI after 6 month hydrocorisone treatment: weight loss | Incidence of the weight loss (>3 kg) in the CAI, intermediate and the AS groups. | After 6 month HCT treatment | 
| Symptoms of CAI after 12 month hydrocorisone treatment: weight loss | Incidence of the weight loss (>3 kg) in the CAI, intermediate and the AS groups. | After 12 month HCT treatment | 
| Symptoms of CAI before hydrocortisone substitution: nausea | Incidence of the nausea in the CAI, intermediate and the AS groups. | Before HCT treatment | 
| Symptoms of CAI after 6 month hydrocorisone treatment: nausea | Incidence of the nausea in the CAI, intermediate and the AS groups. | After 6 month HCT treatment | 
| Symptoms of CAI after 12 month hydrocorisone treatment: nausea | Incidence of the nausea in the CAI, intermediate and the AS groups. | After 12 month HCT treatment | 
| Symptoms of CAI before hydrocortisone substitution: vomiting | Incidence of the vomiting in the CAI, intermediate and the AS groups. | Before HCT treatment | 
| Symptoms of CAI after 6 month hydrocorisone treatment: vomiting | Incidence of the vomiting in the CAI, intermediate and the AS groups. | After 6 month HCT treatment | 
| Symptoms of CAI after 12 month hydrocorisone treatment: vomiting | Incidence of the vomiting in the CAI, intermediate and the AS groups. | After 12 month HCT treatment | 
| Symptoms of CAI before hydrocortisone substitution: abdominal pain | Incidence of the abdominal pain in the CAI, intermediate and the AS groups. | Before HCT treatment | 
| Symptoms of CAI after 6 month hydrocorisone treatment: abdominal pain | Incidence of the abdominal pain in the CAI, intermediate and the AS groups. | After 6 month HCT treatment | 
| Symptoms of CAI after 12 month hydrocorisone treatment: abdominal pain | Incidence of the abdominal pain in the CAI, intermediate and the AS groups. | After 12 month HCT treatment | 
| BMI before hydrocortisone substitution in PWS patients with CAI | Measurement of weight and height will be combined to report BMI in kg/m^2. | Before HCT treatment | 
| BMI after 6 month hydrocortisone substitution in PWS patients with CAI | Measurement of weight and height will be combined to report BMI in kg/m^2. | After 6 month HCT treatment | 
| BMI after 12 month hydrocortisone substitution in PWS patients with CAI | Measurement of weight and height will be combined to report BMI in kg/m^2. | After 12 month HCT treatment | 
| Body fat percentage before hydrocortisone substitution in PWS patients with CAI | Measurement of the body fat percentage using bioelectrical impedance method. | Before HCT treatment | 
| Body fat percentage after 6 month hydrocortisone substitution in PWS patients with CAI | Measurement of the body fat percentage using bioelectrical impedance method. | After 6 month HCT treatment | 
| Body fat percentage after 12 month hydrocortisone substitution in PWS patients with CAI | Measurement of the body fat percentage using bioelectrical impedance method. | After 12 month HCT treatment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Concentration of morning cortisol | Results of morning cortisol in the entire study group. | At first visit (before HCT treatment). | 
| Concentration of ACTH | Results of ACTH in the entire study group. | At first visit (before HCT treatment). | 
| Concentration of dihydroepiandrosterone sulfate | Results of dihydroepiandrosterone sulfate measurements in the entire study group. | At first visit (before HCT treatment). | 
| Laboratory findings - short Synacthen test | Results of the short Synacthen test in the entire study group. | At first visit (before HCT treatment). |