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Report for Clinical Trial NCT00542841

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Modifier Genes in 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. This, in turn, causes the development of mature masculine characteristics in newborn, prepubescent, and grown females and in prepubescent males. 21OHD is known to be caused by the mutation of a specific gene. However, symptom severity among people with 21OHD varies, and adults seem to be less affected than children. 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.

NCT00542841 21-hydroxylase Deficiency
MeSH:Adrenal Hyperplasia, Congenital Adrenogenital Syndrome
HPO:Adrenogenital syndrome Congenital adrenal hyperplasia

1 Interventions

Name: Hydrocortisone withdrawal

Description: 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.
Type: Procedure
Group Labels: 1

1


Primary Outcomes

Measure: Serum 17-hydroxyprogesterone/cortisol ratio

Time: After cosyntropin administration

Secondary Outcomes

Measure: Many other serum and urine steroids, metabolites, and precursors

Time: Before and after cosyntropin administration

Purpose: Diagnostic

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 C656G

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 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 21-hydroxylase Deficiency Adrenal Hyperplasia, Congenital Adrenogenital Syndrome CAH is a genetic steroidogenesis disorder. --- C656G ---

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 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 21-hydroxylase Deficiency Adrenal Hyperplasia, Congenital Adrenogenital Syndrome CAH is a genetic steroidogenesis disorder. --- C656G --- --- C656G ---



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