## Protocol Section
### Identification Module
**NCT ID:** NCT02368379

**Brief Title:** Diagnosis of Central Adrenal Insufficiency in Patients With Prader-Willi Syndrome

**Official Title:** Diagnosis of Central Adrenal Insufficiency in Patients With Prader-Willi Syndrome

#### Organization Study ID Info
**ID:** 293113
#### Organization
**Class:** OTHER
**Full Name:** Nationwide Children's Hospital
### Status Module
#### Completion Date
**Date:** 2016-08

**Type:** ACTUAL

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2018-01-29

**Type:** ACTUAL

**Last Update Submit Date:** 2018-01-25

**Overall Status:** COMPLETED

#### Primary Completion Date
**Date:** 2016-08

**Type:** ACTUAL

#### Start Date
**Date:** 2014-03

**Status Verified Date:** 2018-01

#### Study First Post Date
**Date:** 2015-02-23
**Type:** ESTIMATED
**Study First Submit Date:** 2015-02-05
**Study First Submit QC Date:** 2015-02-16
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** OTHER

**Name:** Nationwide Children's Hospital

#### Responsible Party

**Investigator Affiliation:** Nationwide Children's Hospital

**Investigator Full Name:** Manmohan Kamboj

**Investigator Title:** Associate Professor of Pediatrics, Section of Endocrinology, Metabolism and Diabetes

**Type:** PRINCIPAL_INVESTIGATOR

### Oversight Module

**Oversight Has DMC:** False

### Description Module

**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 Module

**Conditions:**

- Prader Willi Syndrome

- Adrenal Insufficiency

**Keywords:**

- Metyrapone

- ACTH stimulation test

### Design Module

#### Design Info

**Allocation:** NA

**Intervention Model:** SINGLE_GROUP

##### Masking Info

**Masking:** NONE

**Primary Purpose:** DIAGNOSTIC

#### Enrollment Info

**Count:** 23

**Type:** ACTUAL

**Phases:**

- NA

**Study Type:** INTERVENTIONAL

### Arms Interventions Module

#### Arm Group 1

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

**Intervention Names:**

- Other: Low dose (1 mcg) ACTH stimulation test

- Other: Overnight metyrapone test

**Label:** Assessment of Central Adrenal Insufficiency

**Type:** OTHER

### Interventions

#### Intervention 1

**Arm Group Labels:**

- Assessment of Central Adrenal Insufficiency

**Description:** 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.

**Name:** Low dose (1 mcg) ACTH stimulation test

**Type:** OTHER

#### Intervention 2

**Arm Group Labels:**

- Assessment of Central Adrenal Insufficiency

**Description:** 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.

**Name:** Overnight metyrapone test

**Type:** OTHER

### Outcomes Module

#### Primary Outcomes

**Measure:** Presence of central adrenal insufficiency using low dose (1 mcg) ACTH stimulation test

**Time Frame:** 40 minutes

**Measure:** Prescence of central adrenal insufficiency using overnight metyrapone test

**Time Frame:** 8 hours

#### Secondary Outcomes

**Measure:** 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.

**Time Frame:** 0

### Eligibility Module

**Eligibility Criteria:** Inclusion Criteria:

* Individuals with Prader Willi Syndrome ages 2 years and older

Exclusion Criteria:

* 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).

**Healthy Volunteers:** True

**Minimum Age:** 2 Years

**Sex:** ALL

**Standard Ages:**

- CHILD

- ADULT

- OLDER_ADULT

### Contacts Locations Module

#### Locations

**Location 1:**

**City:** Columbus

**Country:** United States

**Facility:** Nationwide Children's Hospital

**State:** Ohio

**Zip:** 43205

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000004194

- Term: Disease

- ID: D000010335

- Term: Pathologic Processes

- ID: D000008607

- Term: Intellectual Disability

- ID: D000019954

- Term: Neurobehavioral Manifestations

- ID: D000009461

- Term: Neurologic Manifestations

- ID: D000009422

- Term: Nervous System Diseases

- ID: D000000015

- Term: Abnormalities, Multiple

- ID: D000000013

- Term: Congenital Abnormalities

- ID: D000025063

- Term: Chromosome Disorders

- ID: D000030342

- Term: Genetic Diseases, Inborn

- ID: D000096803

- Term: Imprinting Disorders

- ID: D000009765

- Term: Obesity

- ID: D000050177

- Term: Overweight

- ID: D000044343

- Term: Overnutrition

- ID: D000009748

- Term: Nutrition Disorders

- ID: D000000307

- Term: Adrenal Gland Diseases

- ID: D000004700

- Term: Endocrine System Diseases

### Condition Browse Module - Browse Branches

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: All

- Name: All Conditions

- Abbrev: BC10

- Name: Nervous System Diseases

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: BC18

- Name: Nutritional and Metabolic Diseases

- Abbrev: BC19

- Name: Gland and Hormone Related Diseases

- Abbrev: BXM

- Name: Behaviors and Mental Disorders

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M16355

- Name: Syndrome

- Relevance: HIGH

- As Found: Syndrome

- ID: M14099

- Name: Prader-Willi Syndrome

- Relevance: HIGH

- As Found: Prader-Willi Syndrome

- ID: M3661

- Name: Adrenal Insufficiency

- Relevance: HIGH

- As Found: Adrenal Insufficiency

- ID: M11589

- Name: Intellectual Disability

- Relevance: LOW

- As Found: Unknown

- ID: M21826

- Name: Neurobehavioral Manifestations

- Relevance: LOW

- As Found: Unknown

- ID: M12404

- Name: Neurologic Manifestations

- Relevance: LOW

- As Found: Unknown

- ID: M12

- Name: Congenital Abnormalities

- Relevance: LOW

- As Found: Unknown

- ID: M14

- Name: Abnormalities, Multiple

- Relevance: LOW

- As Found: Unknown

- ID: M23023

- Name: Chromosome Disorders

- Relevance: LOW

- As Found: Unknown

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: M12701

- Name: Obesity

- Relevance: LOW

- As Found: Unknown

- ID: M26186

- Name: Overweight

- Relevance: LOW

- As Found: Unknown

- ID: M25307

- Name: Overnutrition

- Relevance: LOW

- As Found: Unknown

- ID: M12684

- Name: Nutrition Disorders

- Relevance: LOW

- As Found: Unknown

- ID: M3659

- Name: Adrenal Gland Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M7862

- Name: Endocrine System Diseases

- Relevance: LOW

- As Found: Unknown

- ID: T4665

- Name: Prader-Willi Syndrome

- Relevance: HIGH

- As Found: Prader-Willi Syndrome

- ID: T5162

- Name: Secondary Adrenal Insufficiency

- Relevance: HIGH

- As Found: Central Adrenal Insufficiency

### Condition Browse Module - Meshes

- ID: D000011218

- Term: Prader-Willi Syndrome

- ID: D000000309

- Term: Adrenal Insufficiency

- ID: D000013577

- Term: Syndrome

### Intervention Browse Module - Ancestors

- ID: D000000963

- Term: Antimetabolites

- ID: D000045504

- Term: Molecular Mechanisms of Pharmacological Action

- ID: D000004791

- Term: Enzyme Inhibitors

### Intervention Browse Module - Browse Branches

- Abbrev: VaCoAg

- Name: Vasoconstrictor Agents

- Abbrev: Resp

- Name: Respiratory System Agents

- Abbrev: All

- Name: All Drugs and Chemicals

- Abbrev: Infl

- Name: Anti-Inflammatory Agents

### Intervention Browse Module - Browse Leaves

- ID: M7992

- Name: Epinephrine

- Relevance: LOW

- As Found: Unknown

- ID: M9912

- Name: Hydrocortisone

- Relevance: LOW

- As Found: Unknown

- ID: M155245

- Name: Hydrocortisone 17-butyrate 21-propionate

- Relevance: LOW

- As Found: Unknown

- ID: M228609

- Name: Hydrocortisone acetate

- Relevance: LOW

- As Found: Unknown

- ID: M263259

- Name: Hydrocortisone hemisuccinate

- Relevance: LOW

- As Found: Unknown

- ID: M30371

- Name: Racepinephrine

- Relevance: LOW

- As Found: Unknown

- ID: M211043

- Name: Epinephryl borate

- Relevance: LOW

- As Found: Unknown

- ID: M6585

- Name: Cosyntropin

- Relevance: LOW

- As Found: Unknown

- ID: M11769

- Name: Metyrapone

- Relevance: HIGH

- As Found: Amenorrhea

- ID: M4281

- Name: Antimetabolites

- Relevance: LOW

- As Found: Unknown

- ID: M7951

- Name: Enzyme Inhibitors

- Relevance: LOW

- As Found: Unknown

### Intervention Browse Module - Meshes

- ID: D000008797

- Term: Metyrapone

### Misc Info Module

- Version Holder: 2024-05-24
