SNPMiner Trials by Shray Alag


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Report for Mutation C656G

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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 Procedure: Hydrocortisone withdrawal
MeSH: Adrenal Hyperplasia, Congenital Adrenogenital Syndrome
HPO: Adrenogenital syndrome Congenital adrenal hyperplasia

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 ---

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


HPO Nodes


Congenital adrenal hyperplasia
Genes 7
POR HSD3B2 CYP11B1 CYP11B1 CYP17A1 POR STAR
Adrenogenital syndrome
Genes 8
CYP17A1 POR HSD3B2 CYP11B1 CYP11B1 CYP21A2 CYP11B1 STAR