Adrenal Hyperplasia, CongenitalNCT00617292
Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers
An observational study of Adrenal Hyperplasia, Congenital, run by Office of Rare Diseases (ORD) at 4 sites in 3 countries.
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… Read more about this study
- Who is it for?
- Ages 12 years and olderHealthy volunteers can take part
- Conditions the study is for
- Adrenal Hyperplasia, Congenital
- How many people
- 233 participants
- Where
- 4 sitesin 3 countries
- Study dates
- Jan 2008to Jul 2009
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Participants in this study will include children who received prenatal dexamethasone treatment as fetuses and their mothers.
Who may be able to join
- 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
Show all 11Show fewer
- 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
Who cannot join
- 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)
Trial locations and contacts
4 sites in 3 countries.
Claire Gilbert contact
4 sites in 3 countries
United States2 sites, 2 recruiting
- Not yet recruiting
University of Texas Southwestern Medical Center
Dallas, Texas, 75390
Jean Wilson, MD, 214-648-3494, jean.wilson@utsouthwestern.edu
Jean Wilson, MD
- Recruiting
Mount Sinai School of Medicine
New York, New York, 10029
Claire Gilbert, MS, 212-241-7099, claire.gilbert@mssm.edu
Maria I. New, MD
Brazil1 site, 1 recruiting
- Not yet recruiting
University of Sao Paolo
São Paulo, São Paulo
Ivo Arnhold, MD, 55-11-3069-7512, iarnhold@usp.br
Ivo Arnhold, MD
France1 site, 1 recruiting
- Recruiting
University of Lyon
Lyon
Pierre Chatelain, MD, 04-72-38-58-73, pierre.chatelain@chu-lyon.fr
Pierre Chatelain, MD
About this study
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
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.
Read the 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.
- Conditions
- Adrenal Hyperplasia, Congenital
- Keywords
- 21-hydroxylase deficiency, 21OHD, CAH
- Medical subject headings
- Adrenal Hyperplasia, Congenital, Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of hypertension and obesity
Measured: Throughout the study
"Normal" masculinization of unaffected females treated prenatally with dexamethasone
Measured: Throughout the study
Normal masculinization of male fetuses partially treated prenatally with dexamethasone
Measured: Throughout the study
Memory-related cognitive function
Measured: Throughout the study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Feb 2008 (estimated)
- Study startJan 2008
- Primary completionJul 2009 (estimated)
- Study completionJul 2009 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Adrenal Hyperplasia, CongenitalStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 233 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Office of Rare Diseases (ORD)
- Sponsor type
- US National Institutes of Health
- Investigators
- Maria I. New, MD, Study chair, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00617292
- Sponsor's protocol ID
- RDCRN 5610
- Status last verified
- Dec 2008
- First submitted
- 31 Jan 2008
- Last updated
- 9 Dec 2008
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 9 Dec 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT00617292
- Acronym / sponsor ID
- RDCRN 5610
- Conditions
- Adrenal Hyperplasia, Congenital
- Keywords
- 21-hydroxylase deficiency, 21OHD, CAH
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 233 participants (estimated)
- Lead sponsor
- Office of Rare Diseases (ORD)US National Institutes of Health
- Study start
- Jan 2008
- Primary completion
- Jul 2009 (estimated)
- Study completion
- Jul 2009 (estimated)
- First posted
- 18 Feb 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants in this study will include children who received prenatal dexamethasone treatment as fetuses and their mothers.
Key inclusion criteria (11 listed)
- English-speaking
- Has undergone DNA testing for mutations in the CYP21A2 gene
- Genetic confirmation of 21OHD diagnosis
- Received full or partial prenatal dexamethasone treatment
- Did not receive prenatal dexamethasone treatment
Key exclusion criteria (2 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Dec 2008.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Claire Gilbert contact
Maria I. New, MD study chair
Icahn School of Medicine at Mount Sinai
4 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Adrenal Hyperplasia, Congenital, run by Office of Rare Diseases (ORD) at 4 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 9 Dec 2008. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Brazil, France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Claire Gilbert (claire.gilbert@mssm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of hypertension and obesity (time frame: Throughout the study). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Dec 2008.