Examining Genetic Differences Among People With 21-Hydroxylase Deficiency

• Register: ClinicalTrials.gov
• Last refreshed on: 21 December 2015
• Main ID: NCT00542841
• Date of registration: 10/10/2007
• Prospective Registration: No
• Primary sponsor: Maria I. New
• Public title: Examining Genetic Differences Among People With 21-Hydroxylase Deficiency
• Scientific title: Modifier Genes in 21-Hydroxylase Deficiency
• Date of first enrolment: August 2007
• Target sample size: 99
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT00542841
• Study type: Interventional
• Study design: Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic
• Phase: N/A

Countries of recruitment

Brazil, France, United States

Contacts

• Name: Richard J. Auchus, MD, PhD
• Affiliation: University of Texas Southwestern Medical Center

Key inclusion & exclusion criteria

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



Age minimum: 18 Years
Age maximum: 50 Years
Gender: Both

Health Condition(s) or Problem(s) studied

21-hydroxylase Deficiency

Intervention(s)

Procedure: Hydrocortisone withdrawal

Primary Outcome(s)

Serum 17-hydroxyprogesterone/cortisol ratio [Time Frame: After cosyntropin administration]

Secondary Outcome(s)

Many other serum and urine steroids, metabolites, and precursors [Time Frame: Before and after cosyntropin administration]

Secondary ID(s)

RDCRN 5607

U54RR019484

RR019484

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

National Center for Research Resources (NCRR)

Office of Rare Diseases (ORD)