SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03410160

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Predisposing Factors for the Incidence of Adrenal Crisis in Chronic Adrenal Insufficiency

Within this clinical study patients with chronic adrenal insufficiency will be investigated by clinical and biochemical examination as well as questionnaire to identify predisposing factors for adrenal crisis.

NCT03410160 Adrenal Insufficiency
MeSH: Adrenal Insufficiency
HPO: Adrenal insufficiency

1 Interventions

Name: Clinical and biochemical examination.

Description: Patients with chronic adrenal insufficiency were assessed by clinical and biochemical examination as well as questionnaire to evaluate the quality of hormone replacement therapy with glucocorticoids, education status, cortisol-metabolism, catecholamine deficit, chronic inflammation and variations of the glucocorticoid receptor.

Type: Diagnostic Test

High frequency of adrenal crisis Low frequency of adrenal crisis


Primary Outcomes

Description: Measurement of hsCRP (mg/dl) and Interleukin-6 (pg/ml) levels. Hypothesis: Patients with chronic adrenal insufficiency and a high frequency of adrenal crisis exhibit higher hsCRP and Interleukin-6 levels.

Measure: Chronic inflammation (hsCRP, Interleukin-6)

Time: 1 day

Description: Measurement of cortisol-levels (mg/dl) before as well as 60 min and 120 min after ingestion of hydrocortisone. Hypothesis: Patients with chronic adrenal insufficiency and a high frequency of adrenal crisis exhibit a faster hydrocortisone metabolism.

Measure: Cortisol metabolism

Time: 1 day

Description: Evaluation of hormone replacement therapy with glucocorticoids by a clinical score. Hypothesis: Patients with chronic adrenal insufficiency and a high frequency of adrenal crisis suffer from under-replacement.

Measure: Replacement therapy with glucocorticoids

Time: 1 day

Description: Evaluation of hormone replacement therapy with mineralocorticoids by a clinical and biochemical assessment. Hypothesis: Patients with chronic adrenal insufficiency and a high frequency of adrenal crisis suffer from under-replacement.

Measure: Replacement therapy with mineralocorticoids

Time: 1 day

Description: Evaluation of glucocorticoid-receptor-polymorphisms (ER 22/23 EK, N363S, bcl1, 9beta, Tth3l). Hypothesis: Patients with chronic adrenal insufficiency and a high frequency of adrenal crisis have a higher prevalence of glucocorticoid-receptor-polymorphisms.

Measure: Glucocorticoid-receptor-polymorphisms

Time: 1 day

Description: Evaluation of catecholamine-levels (ng/l). Hypothesis: Patients with chronic adrenal insufficiency and a high frequency of adrenal crisis have a more pronounced catecholamin-deficit.

Measure: Catecholamine-levels

Time: 1 day

Description: Evaluation of patient education by questionnaire. Hypothesis: Patients with chronic adrenal insufficiency and a high frequency of adrenal crisis have a worse education status.

Measure: Patient education

Time: 1 day

Time Perspective: Prospective

Case-Control


There is one SNP

SNPs


1 N363S

Evaluation of glucocorticoid-receptor-polymorphisms (ER 22/23 EK, N363S, bcl1, 9beta, Tth3l). --- N363S ---



HPO Nodes


HPO:
Adrenal insufficiency
Genes 99
MKRN3 PCSK1 SNORD115-1 SOX9 TCTN3 TRAPPC11 MAGEL2 SAMD9 WWOX LHX4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 PEX3 MC2R GATA4 WT1 POMC IPW PEX1 AIRE PWRN1 PEX6 POR PEX10 CDH23 PEX12 PEX13 PEX14 MCM4 SRY NDN AIP TXNRD2 RBM28 NR3C1 PEX11B BCOR STAR SNORD116-1 MAP3K1 PEX26 ZFPM2 MKRN3-AS1 MEN1 VANGL2 TBX19 MRPS7 SAA1 LIPA GK AAAS DMRT3 COX1 BRAF COX2 COX3 MTHFR SGPL1 GLI3 ABCC8 MRAP KCNJ11 ND1 NFKB2 ND4 ND5 ND6 VAMP7 NR0B1 NPAP1 PEX19 PEX16 SCNN1B PEX2 PEX5 STEAP3 TRNF NR3C2 NR5A1 HSD3B2 TRNH ABCD1 TRNL1 PWAR1 CTNNB1 HSD11B2 HERC2 TRNQ TRNS1 HSD17B4 TRNS2 TRNW HBB GMPPA NNT SNRPN PROP1