NCT04700644

Brief Summary

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
21

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started May 2020

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 15, 2020

Completed
22 days until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 6, 2020

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 6, 2020

Completed
15 days until next milestone

First Submitted

Initial submission to the registry

June 21, 2020

Completed
7 months until next milestone

First Posted

Study publicly available on registry

January 8, 2021

Completed
Last Updated

January 8, 2021

Status Verified

January 1, 2021

Enrollment Period

22 days

First QC Date

June 21, 2020

Last Update Submit

January 5, 2021

Conditions

Central Adrenal InsufficiencyPrader-Willi Syndrome

Outcome Measures

Primary Outcomes (34)

  • 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: 1. CAI group (suspected CAI): • cortisol \< 500 nmol/L at the 30th minute 2. AS group (adrenal sufficiency - CAI excluded): • cortisol ≥ 600 nmol/L at the 30th minute 3. 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 Outcomes (4)

  • Concentration of morning cortisol

    At first visit (before HCT treatment).

  • Concentration of ACTH

    At first visit (before HCT treatment).

  • Concentration of dihydroepiandrosterone sulfate

    At first visit (before HCT treatment).

  • Laboratory findings - short Synacthen test

    At first visit (before HCT treatment).

Eligibility Criteria

Age18 Years - 26 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Consecutive patients with PWS, referred to the Department of Endocrinology Medical University of Warsaw.

You may qualify if:

  • PWS
  • age \>=18 years

You may not qualify if:

  • age \<18 years
  • GC treatment at last 6 months

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Central Clinical Hospital Medical University of Warsaw

Warsaw, 02-097, Poland

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

whole blood, serum

MeSH Terms

Conditions

Prader-Willi Syndrome

Condition Hierarchy (Ancestors)

Intellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornImprinting DisordersObesityOverweightOvernutritionNutrition DisordersNutritional and Metabolic Diseases

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

June 21, 2020

First Posted

January 8, 2021

Study Start

May 15, 2020

Primary Completion

June 6, 2020

Study Completion

June 6, 2020

Last Updated

January 8, 2021

Record last verified: 2021-01

Locations

PL(1)