Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers
Recruitment status was Recruiting
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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 |
- 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 |
Participants in this study will include children who received prenatal dexamethasone treatment as fetuses and their mothers.
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| Contact: Claire Gilbert | claire.gilbert@mssm.edu |
| 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 | |
| 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 Adrenocortical Hyperfunction Hyperplasia 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 Pathologic Processes |
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 May 22, 2013