Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers

Adrenal Hyperplasia, Congenital Clinical Trial

Official title:

Long-Term Outcome in Offspring and Mothers of Dexamethasone-Treated Pregnancies at Risk for Classical Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00617292
• Other study ID #: RDCRN 5610
• Status: Recruiting
• Phase: N/A
• First received: January 31, 2008
• Last updated: December 8, 2008
• Start date: January 2008
• Est. completion date: July 2009

Study information

• Verified date: December 2008
• Source: Office of Rare Diseases (ORD)
• Contact: Claire Gilbert
• Email: claire.gilbert[@]mssm.edu
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial 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.

Description:

CAH is a genetic steroidogenesis disorder. The most common form, 21OHD, leads to cortisol deficiency and, in turn, an excess of androgen, a hormone that promotes the development and maintenance of male sex characteristics. As a result of this androgen excess, prepubescent males and newborn, prepubescent, and grown females exhibit mature masculine characteristics. Prenatal treatment with dexamethasone, a corticosteroid that decreases androgen levels, has been shown to prevent the development of abnormal genitalia in female infants. The long-term effects of this treatment, however, have not been evaluated. This study will determine whether prenatal dexamethasone treatment causes any long-term side effects by examining children and young adults who received dexamethasone as fetuses and their mothers, who were exposed to dexamethasone while pregnant.

This study has three parts. In Part 1 of the study, participants will provide written consent for release of their medical records from their physicians. Participants' physicians will then complete a medical form and/or provide copies of selected medical records for each participant. Parts 2 and 3 can be completed in 1 day. In Part 2 of the study, participants will complete questionnaires in their homes. Participants will answer questions about the following experiences: medical procedures, such as hormone treatment and genital surgery; education; work; hobbies; play activities and chores during childhood; identification with the male or female gender; relationships with parents; interest in being a parent; and overall adjustment. Part 3 of the study will consist of neuropsychological testing at the study site. This testing will focus on memory, attention, and overall cognitive abilities.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 233
• Est. completion date: July 2009
• Est. primary completion date: July 2009
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 12 Years and older

Eligibility

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

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Adrenal Hyperplasia, Congenital
• Adrenocortical Hyperfunction
• Adrenogenital Syndrome
• Hyperplasia

Locations

Country	Name	City	State
Brazil	University of Sao Paolo	Sao Paolo	SP
France	University of Lyon	Lyon
United States	University of Texas Southwestern Medical Center	Dallas	Texas
United States	Mount Sinai School of Medicine	New York	New York

Sponsors (1)

Lead Sponsor	Collaborator
Office of Rare Diseases (ORD)

Countries where clinical trial is conducted

United States,  Brazil,  France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Prevalence of hypertension and obesity		Throughout the study	No
Primary	"Normal" masculinization of unaffected females treated prenatally with dexamethasone		Throughout the study	No
Primary	Normal masculinization of male fetuses partially treated prenatally with dexamethasone		Throughout the study	No
Primary	Memory-related cognitive function		Throughout the study	Yes

External Links

•   Click here for the Rare Genetic Steroid Disorders Consortium Web site and for information about this study