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

NCT00617292 | Unknown DMC

• 1 other identifier: RDCRN 5610
• Study Type: observational
• Target: 233
• Locations: 3 countries
• Sites: 4

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

Keywords

21-hydroxylase deficiency; 21OHD; CAH

Outcome Measures

Primary Outcomes (4)

• Prevalence of hypertension and obesity

  Throughout the study

• "Normal" masculinization of unaffected females treated prenatally with dexamethasone

  Throughout the study

• Normal masculinization of male fetuses partially treated prenatally with dexamethasone

  Throughout the study

• Memory-related cognitive function

  Throughout the study

Study Arms (3)

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

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants in this study will include children who received prenatal dexamethasone treatment as fetuses and their mothers.

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Office of Rare Diseases (ORD): lead

Study Sites (4)

Mount Sinai School of Medicine

New York, New York, 10029, United States

RECRUITING

University of Texas Southwestern Medical Center

Dallas, Texas, 75390, United States

NOT YET RECRUITING

University of Sao Paolo

São Paulo, São Paulo, Brazil

NOT YET RECRUITING

University of Lyon

Lyon, France

RECRUITING

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital; Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Condition Hierarchy (Ancestors)

Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders

Study Officials

• Maria I. New, MD

  Icahn School of Medicine at Mount Sinai

  STUDY CHAIR

Central Study Contacts

Claire Gilbert

CONTACT

claire.gilbert@mssm.edu

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH

Study Record Dates

• First Submitted: January 31, 2008
• First Posted: February 18, 2008
• Study Start: January 1, 2008
• Primary Completion: July 1, 2009
• Study Completion: July 1, 2009
• Last Updated: December 9, 2008

Record last verified: 2008-12

Locations

BR (1); US (2); FR (1)