- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00542841
Examining Genetic Differences Among People With 21-Hydroxylase Deficiency
Modifier Genes in 21-Hydroxylase Deficiency
Study Overview
Status
Conditions
Intervention / 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. The symptoms and severity of 21OHD vary among individuals with the disease and in adults versus children. The reasons for these differences are not yet known. Current therapy for 21OHD consists of administration of glucocorticoids to replace cortisol and suppress excessive pituitary function. With more information about what genes or factors contribute to the severity of 21OHD, researchers may be able to better treat children and adults with the disease. This study will examine participants' DNA to determine what other genes may affect the severity of 21OHD and may make the disease milder in adults than in children.
People interested in participating in this 3-day inpatient study will first undergo a physical exam and provide a blood sample to determine eligibility. Eligible participants will be admitted to the study site in the morning on the first study day. A blood sample will be taken and participants will receive one 10-mg pill of hydrocortisone. Heart rates and blood pressures will be taken every 4 hours throughout the day. In the morning of Day 2, a blood sample will be taken and participants will be asked to urinate in the toilet. After this point and until the end of the study, participants will collect all urine in a jug. On the morning of Day 3, participants will complete urine collection and a blood sample will be taken. Participants will then receive intravenously a medicine called cosyntropin, a synthetic form of a hormone that the body makes. About 1 hour after this, participants will provide a final blood sample. Participants will receive one last pill of hydrocortisone prior to the end of the study.
Study Type
Enrollment (Actual)
Phase
- Not Applicable
Contacts and Locations
Study Locations
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SP
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Sao Paolo, SP, Brazil, 06403-900
- University of Sao Paolo
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-
-
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New York
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New York, New York, United States, 10029
- Mount Sinai School of Medicine
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Texas
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Dallas, Texas, United States, 75390
- University of Texas Southwestern Medical Center
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
Inclusion Criteria:
- Diagnosis of 21OHD with two "severe" alleles, excluding the A/C656G mutation OR participant consents to genetic testing and a CYP21A2 mutation is identified
- Currently a patient at one of the participating centers
- Currently taking less than 15mg/m² hydrocortisone per day and has been for at least the past 3 months
Exclusion Criteria:
- History of adrenal crisis within 1 year prior to study entry
- Any coexisting condition requiring corticosteroid therapy (e.g., asthma, psoriasis)
- History of removal of both adrenal glands
- History of deficient pituitary gland function
- Current or past use of growth hormone therapy within 3 months prior to study entry
- Serum creatinine level greater than 2 mg/dL
- Systolic blood pressure less than 90 mm Hg
- History of critical illness or surgery that required general anesthesia within 1 month prior to study entry
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: 1
|
This is considered a non-standard treatment.
On Day 1, participants will receive one 10-mg pill of hydrocortisone.
On Day 3, participants will receive intravenously a medicine called cosyntropin, a synthetic form of a hormone that the body makes.
Participants will receive one last pill of hydrocortisone prior to the end of the study.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Serum 17-hydroxyprogesterone/cortisol ratio
Time Frame: After cosyntropin administration
|
After cosyntropin administration
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Many other serum and urine steroids, metabolites, and precursors
Time Frame: Before and after cosyntropin administration
|
Before and after cosyntropin administration
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Richard J. Auchus, MD, PhD, University of Texas Southwestern Medical Center
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Metabolic Diseases
- Endocrine System Diseases
- Gonadal Disorders
- Disorders of Sex Development
- Urogenital Abnormalities
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Metabolism, Inborn Errors
- Adrenal Gland Diseases
- Steroid Metabolism, Inborn Errors
- Adrenal Hyperplasia, Congenital
- Adrenogenital Syndrome
- Anti-Inflammatory Agents
- Hydrocortisone
Other Study ID Numbers
- RDCRN 5607
- U54RR019484 (U.S. NIH Grant/Contract)
- RR019484
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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