Recruiting

Dexamethasone with 21-Hydroxylase

Sponsor:

Office of Rare Diseases (ORD)

Code:

NCT00617292

Conditions

Adrenal Hyperplasia, Congenital

Eligibility Criteria

Sex: All

Age: 12+

Healthy Volunteers: Accepted

Study Details

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 and causes the development of mature masculine characteristics in newborn, prepubescent, and grown females, and prepubescent males. Prenatal treatment with dexamethasone, a corticosteroid, has been shown to reduce the masculinization of genitalia. However, the long-term effects of dexamethasone on the children who received it as fetuses and on mothers who were exposed to it while they were pregnant have not been determined. This study will investigate potential long-term adverse side effects of prenatal dexamethasone treatment in children and young adults who received dexamethasone as fetuses and their mothers who were exposed to it during pregnancy.

Conditions

Adrenal Hyperplasia, Congenital

Study ID

NCT00617292

Start date

Jan, 2008

Status verified date

Dec, 2008

Completion date

Jul, 2009

Anticipated

Primary completion date

Jul, 2009

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 12+

Healthy Volunteers: Accepted

Inclusion Criteria:

For all participants:

  • English-speaking
  • Has undergone DNA testing for mutations in the CYP21A2 gene

For children who received prenatal dexamethasone treatment:

  • Genetic confirmation of 21OHD diagnosis
  • Received full or partial prenatal dexamethasone treatment

For children in the control group:

  • Did not receive prenatal dexamethasone treatment

For mothers:

  • History of at-risk pregnancy for a fetus affected with 21OHD
  • Genetic confirmation of child's diagnosis

Exclusion Criteria:

  • Any mental disorder that could prevent understanding of study materials
  • Current or past steroid use for reasons other than CAH (i.e., asthma, lupus, rheumatoid arthritis)

Study Design

Enrollment

233 participants

Anticipated

Interventions and Outcome Measures

Arms

Category 1, Group 1

Children who have 21OHD and received prenatal dexamethasone treatment

Category 1, Group 2

Children who have 21OHD and did not receive prenatal dexamethasone treatment (control)

Category 2

Mothers of children who received prenatal dexamethasone treatment

Primary outcome measure

  • Prevalence of hypertension and obesity [ Time Frame: Throughout the study ]
  • "Normal" masculinization of unaffected females treated prenatally with dexamethasone [ Time Frame: Throughout the study ]
  • Normal masculinization of male fetuses partially treated prenatally with dexamethasone [ Time Frame: Throughout the study ]
  • Memory-related cognitive function [ Time Frame: Throughout the study ]

Central Contacts and Locations

Central contacts

Claire Gilbert

claire.gilbert@mssm.edu

Locations

Mount Sinai School of Medicine

Recruiting

New York, New York, United States, 10029

Contacts

Claire Gilbert, MS

212-241-7099claire.gilbert@mssm.edu

Principal Investigator:

Maria I. New, MD

More Information

Sponsor

Office of Rare Diseases (ORD)

Last update posted

Dec 9, 2008

Last verified

Dec, 2008

Keywords

  • 21-hydroxylase deficiency
  • 21OHD
  • CAH

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Office of Rare Diseases (ORD) on 2008-12-09.