NCT00542841

Brief Summary

Congenital adrenal hyperplasia (CAH) is a genetic disorder that affects the amount of steroids that the body forms. The most common form of CAH is 21-hydroxylase deficiency (21OHD), which leads to cortisol deficiency. This, in turn, causes the development of mature masculine characteristics in newborn, prepubescent, and grown females and in prepubescent males. 21OHD is known to be caused by the mutation of a specific gene. However, symptom severity among people with 21OHD varies, and adults seem to be less affected than children. This study will examine participants' DNA to determine what other genes may affect the severity of 21OHD and may make the disease milder in adults than in children.

Trial Health

90
On Track

Trial Health Score

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

Enrollment
99

participants targeted

Target at P50-P75 for not_applicable

Timeline
Completed

Started Aug 2007

Geographic Reach
2 countries

3 active sites

Status
completed

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

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 1, 2007

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

October 10, 2007

Completed
2 days until next milestone

First Posted

Study publicly available on registry

October 12, 2007

Completed
1.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2009

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2009

Completed
Last Updated

December 14, 2015

Status Verified

December 1, 2015

Enrollment Period

1.6 years

First QC Date

October 10, 2007

Last Update Submit

December 10, 2015

Conditions

21-hydroxylase Deficiency

Keywords

Adrenal Hyperplasia, CongenitalSteroid Biosynthesis Disorders

Outcome Measures

Primary Outcomes (1)

  • Serum 17-hydroxyprogesterone/cortisol ratio

    After cosyntropin administration

Secondary Outcomes (1)

  • Many other serum and urine steroids, metabolites, and precursors

    Before and after cosyntropin administration

Study Arms (1)

1

EXPERIMENTAL
Procedure: Hydrocortisone withdrawal

Interventions

Hydrocortisone withdrawalPROCEDURE

This is considered a non-standard treatment. On Day 1, participants will receive one 10-mg pill of hydrocortisone. On Day 3, participants will receive intravenously a medicine called cosyntropin, a synthetic form of a hormone that the body makes. Participants will receive one last pill of hydrocortisone prior to the end of the study.

1

Eligibility Criteria

Age18 Years - 50 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64)

You may qualify if:

  • Diagnosis of 21OHD with two "severe" alleles, excluding the A/C656G mutation OR participant consents to genetic testing and a CYP21A2 mutation is identified
  • Currently a patient at one of the participating centers
  • Currently taking less than 15mg/m² hydrocortisone per day and has been for at least the past 3 months

You may not qualify if:

  • History of adrenal crisis within 1 year prior to study entry
  • Any coexisting condition requiring corticosteroid therapy (e.g., asthma, psoriasis)
  • History of removal of both adrenal glands
  • History of deficient pituitary gland function
  • Current or past use of growth hormone therapy within 3 months prior to study entry
  • Serum creatinine level greater than 2 mg/dL
  • Systolic blood pressure less than 90 mm Hg
  • History of critical illness or surgery that required general anesthesia within 1 month prior to study entry

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

Mount Sinai School of Medicine

New York, New York, 10029, United States

Location

University of Texas Southwestern Medical Center

Dallas, Texas, 75390, United States

Location

University of Sao Paolo

São Paulo, São Paulo, 06403-900, Brazil

Location

MeSH Terms

Conditions

Congenital adrenal hyperplasia due to 21 hydroxylase deficiencyAdrenal Hyperplasia, Congenital

Condition Hierarchy (Ancestors)

Adrenogenital SyndromeDisorders of Sex DevelopmentUrogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornSteroid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic DiseasesAdrenal Gland DiseasesEndocrine System DiseasesGonadal Disorders

Study Officials

  • Richard J. Auchus, MD, PhD

    University of Texas Southwestern Medical Center

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

October 10, 2007

First Posted

October 12, 2007

Study Start

August 1, 2007

Primary Completion

March 1, 2009

Study Completion

March 1, 2009

Last Updated

December 14, 2015

Record last verified: 2015-12

Locations

US(2)BR(1)