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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified December 2008 by Office of Rare Diseases (ORD).
Recruitment status was  Recruiting
Sponsor:
Information provided by:
Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:
NCT00617292
First received: January 31, 2008
Last updated: December 8, 2008
Last verified: December 2008
  Purpose

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.


Condition
Adrenal Hyperplasia, Congenital

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
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

Resource links provided by NLM:


Further study details as provided by Office of Rare Diseases (ORD):

Primary Outcome Measures:
  • Prevalence of hypertension and obesity [ Time Frame: Throughout the study ] [ Designated as safety issue: No ]
  • "Normal" masculinization of unaffected females treated prenatally with dexamethasone [ Time Frame: Throughout the study ] [ Designated as safety issue: No ]
  • Normal masculinization of male fetuses partially treated prenatally with dexamethasone [ Time Frame: Throughout the study ] [ Designated as safety issue: No ]
  • Memory-related cognitive function [ Time Frame: Throughout the study ] [ Designated as safety issue: Yes ]

Estimated Enrollment: 233
Study Start Date: January 2008
Estimated Study Completion Date: July 2009
Estimated Primary Completion Date: July 2009 (Final data collection date for primary outcome measure)
Groups/Cohorts
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

Detailed 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.

  Eligibility

Ages Eligible for Study:   12 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

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

Criteria

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)
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00617292

Contacts
Contact: Claire Gilbert claire.gilbert@mssm.edu

Locations
United States, New York
Mount Sinai School of Medicine Recruiting
New York, New York, United States, 10029
Contact: Claire Gilbert, MS    212-241-7099    claire.gilbert@mssm.edu   
Principal Investigator: Maria I. New, MD         
Sub-Investigator: Madeline Harbison, MD         
Sub-Investigator: Karen Lin-Su, MD         
Sub-Investigator: Robert Wilson, PhD         
Sub-Investigator: Saroj Nimkarn, MD         
Sub-Investigator: Susan Baker, PhD         
Sub-Investigator: Heino Meyer-Bahlburg, PhD         
United States, Texas
University of Texas Southwestern Medical Center Not yet recruiting
Dallas, Texas, United States, 75390
Contact: Jean Wilson, MD    214-648-3494    jean.wilson@utsouthwestern.edu   
Principal Investigator: Jean Wilson, MD         
Sub-Investigator: Richard Auchus, MD, PhD         
Brazil
University of Sao Paolo Not yet recruiting
Sao Paolo, SP, Brazil
Contact: Ivo Arnhold, MD    55-11-3069-7512    iarnhold@usp.br   
Principal Investigator: Ivo Arnhold, MD         
Sub-Investigator: Berenice Mendonca, MD, PhD         
France
University of Lyon Recruiting
Lyon, France
Contact: Pierre Chatelain, MD    04-72-38-58-73    pierre.chatelain@chu-lyon.fr   
Principal Investigator: Pierre Chatelain, MD         
Sub-Investigator: Maguelone Forest, MD, PhD         
Sub-Investigator: Michael David, MD         
Sponsors and Collaborators
Investigators
Study Chair: Maria I. New, MD Mount Sinai School of Medicine
  More Information

No publications provided

Responsible Party: Maria I. New, MD, Mount Sinai School of Medicine
ClinicalTrials.gov Identifier: NCT00617292     History of Changes
Other Study ID Numbers: RDCRN 5610
Study First Received: January 31, 2008
Last Updated: December 8, 2008
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
21-hydroxylase deficiency
21OHD
CAH

Additional relevant MeSH terms:
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Hyperplasia
Adrenocortical Hyperfunction
Pathologic Processes
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Adrenal Gland Diseases
Endocrine System Diseases
Gonadal Disorders
Dexamethasone acetate
Dexamethasone
Dexamethasone 21-phosphate
BB 1101
Anti-Inflammatory Agents
Therapeutic Uses
Pharmacologic Actions
Antiemetics
Autonomic Agents
Peripheral Nervous System Agents
Physiological Effects of Drugs
Central Nervous System Agents
Gastrointestinal Agents
Glucocorticoids
Hormones

ClinicalTrials.gov processed this record on October 01, 2014