Diagnosis of Central Adrenal Insufficiency in Patients With Prader-Willi Syndrome

NCT02368379 | Completed

• 1 other identifier: 293113
• Study Type: interventional
• Target: 23
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to determine presence of central adrenal insufficiency in children with Prader Willi Syndrome using low dose (1 mcg) ACTH stimulation test compared to results of overnight metyrapone test.

Conditions

Prader Willi Syndrome; Adrenal Insufficiency

Keywords

Metyrapone; ACTH stimulation test

Outcome Measures

Primary Outcomes (2)

• Presence of central adrenal insufficiency using low dose (1 mcg) ACTH stimulation test

  40 minutes

• Prescence of central adrenal insufficiency using overnight metyrapone test

  8 hours

Secondary Outcomes (1)

• Determine peak cortisol value on low dose (1 mcg) ACTH stimulation test that can accurately predict central adrenal insufficiency based on overnight metyrapone test with good sensitivity and specificity.

  0

Study Arms (1)

Assessment of Central Adrenal Insufficiency

OTHER

Patients will undergo low dose ACTH stimulation test followed by overnight metyrapone test to assess for central adrenal insufficiency.

Other: Low dose (1 mcg) ACTH stimulation test; Other: Overnight metyrapone test

Interventions

Low dose (1 mcg) ACTH stimulation test OTHER

Subjects will have baseline cortisol and ACTH drawn followed by administration of 1 mcg/m2 (max 1 mcg) of cortrosyn. Blood will be drawn at 20 and 40 minutes post cortrosyn for peak cortisol assessment of central adrenal insufficiency.

Assessment of Central Adrenal Insufficiency

Overnight metyrapone test OTHER

Subjects will receive metyrapone 30 mg/kg (max 3 grams) by mouth at midnight. Blood will be drawn at 0800 AM the following morning for ACTH, cortisol and 11 deoxycortisol for assessment of central adrenal insufficiency.

Assessment of Central Adrenal Insufficiency

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Individuals with Prader Willi Syndrome ages 2 years and older

You may not qualify if:

• Individuals who are ill at the time of study
• Individuals who are pregnant at the time of study
• Individuals who it is deemed unsafe to stop taking medications known to affect the results of they study (hydrocortisone, phenytoin, estrogen, acetaminophen, oral anti-diabetic agents).

Sponsors & Collaborators

• Nationwide Children's Hospital: lead

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

MeSH Terms

Conditions

Prader-Willi Syndrome; Adrenal Insufficiency

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders; Obesity; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Pediatrics, Section of Endocrinology, Metabolism and Diabetes

Study Record Dates

• First Submitted: February 5, 2015
• First Posted: February 23, 2015
• Study Start: March 1, 2014
• Primary Completion: August 1, 2016
• Study Completion: August 1, 2016
• Last Updated: January 29, 2018

Record last verified: 2018-01

Locations

US (1)