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Examining Genetic Differences Among People With 21-Hydroxylase Deficiency

NCT00542841 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 99

Last updated 2015-12-14

No results posted yet for this study

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.

Conditions

  • 21-hydroxylase Deficiency

Interventions

PROCEDURE

Hydrocortisone withdrawal

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.

Sponsors & Collaborators

  • Office of Rare Diseases (ORD)

    collaborator NIH

  • National Center for Research Resources (NCRR)

    collaborator NIH

  • Maria I. New

    lead OTHER

Principal Investigators

  • Richard J. Auchus, MD, PhD · University of Texas Southwestern Medical Center

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
50 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2007-08-31
Primary Completion
2009-03-31
Completion
2009-03-31

Countries

  • United States
  • Brazil

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00542841 on ClinicalTrials.gov