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Report for Clinical Trial NCT03410160

Developed by Shray Alag, 2020.
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 136
SNRPN CYP11A1 SNORD116-1 VAMP7 NFKB2 PCSK1 TXNRD2 PEX1 SGPL1 IARS2 PEX14 BCOR HSD11B2 SOX9 SMARCB1 PEX2 TRNH HSD3B2 AIRE PEX10 CYP11B2 IPW GATA4 LHX4 NF2 PEX1 ND4 NPAP1 NNT PEX13 MCM4 TRNL1 CYP17A1 MKRN3 TXNRD2 LIPA ABCD1 PEX5 AAAS PEX12 PEX13 TCTN3 SRY TRNQ PCSK1 NR5A1 PEX19 TRNS2 AAAS RBM28 MAP3K1 PEX10 POMC HSD11B2 PEX6 CDH23 TRNS1 NR3C2 PEX3 PEX5 POR RBM28 PEX11B BRAF PWRN1 GK GLI3 MRAP SCNN1B AIRE CYP11A1 PEX14 ABCC8 PEX3 ZFPM2 NR0B1 NDN COX1 MAGEL2 SAA1 CDH23 MKRN3-AS1 STAR MRAP CTNNB1 TRNF PEX16 PEX19 PEX16 ND1 NR3C1 PWAR1 PEX12 TRNW COX3 CYP11B2 SAMD9 MEN1 CYP11B1 MC2R CYP11A1 PEX26 PEX2 WT1 NR0B1 PEX5 PEX6 GMPPA COX2 PDGFB DMRT3 PEX6 AIP TBX19 SNORD115-1 GLI3 MC2R POMC HBB SUFU KCNJ11 CYP11B2 ND6 PEX26 PEX11B TRAPPC11 MRPS7 STEAP3 ND5 PROP1 TBX19 HSD17B4 CYP11B1 HERC2 NFKB2 WWOX