SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03140761

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

The Prevalence of Secondary Adrenal Insufficiency in Patients With Exacerbation of COPD in Glucocorticoid Treatment Related to Differenct Gene Polymorphisms of the Glucocorticoid Receptor Gene

To investigate the correlation between four well-known polymorphisms of the glucocorticoid receptor gene (two with reduced sensitivity versus two with increased sensitivity) and the prevalence of secondary adrenal insufficiency in glucocorticoid-treated patients with exacerbation of COPD.

NCT03140761 Adrenal Insufficiency
MeSH: Adrenal Insufficiency
HPO: Adrenal insufficiency


Primary Outcomes

Description: test for adrenal function by stimulation test

Measure: Secondary Adrenal insufficiency

Time: average 1 month

Secondary Outcomes

Description: blood lipids, blood pressure, plasma glucose, abdominal obesity, body composition

Measure: Metabolic syndrome

Time: average 1 month

Description: bonemarkers

Measure: Bone mineral loss

Time: average 1 month

Measure: Onset of Diabetes Mellitus

Time: average 1 month

Description: test by questionnaires

Measure: Quality of life

Time: average 1 month

Time Perspective: Prospective

Case-Only


There is one SNP

SNPs


1 N363S

Inclusion Criteria: - Adult patients > 18 years - Caucasian classified with COPD - Patients with AECOPD being treated with at least 5 days of glucocorticoid (minimum of 180 mg) Exclusion Criteria: - Treated with estrogen-containing medications, including anticonceptiva 6 weeks prior to Synacthen® - Pregnancy or lactation - on regular systemic glucocorticoid therapy before admission to the hospital - People who are detained under the act on the use of coercion in psychiatry - Severe language problems or inability to provide written informed consent Inclusion Criteria: - Adult patients > 18 years - Caucasian classified with COPD - Patients with AECOPD being treated with at least 5 days of glucocorticoid (minimum of 180 mg) Exclusion Criteria: - Treated with estrogen-containing medications, including anticonceptiva 6 weeks prior to Synacthen® - Pregnancy or lactation - on regular systemic glucocorticoid therapy before admission to the hospital - People who are detained under the act on the use of coercion in psychiatry - Severe language problems or inability to provide written informed consent Adrenal Insufficiency Adrenal Insufficiency COPD patients who have received systemic glucocorticoid exceeding the equivalent of 180 mg prednisolone which are homo / heterozygous for the BclI and / or N363S polymorphisms (associated with increased glucocorticoid sensitivity) will have a lower cortisol response in a synacthen® test (greater suppression of adrenal corticosteroid) than the corresponding patients there are wild-type or homo- or heterozygous for the polymorphic ER22 / 23EK and / or 9β (associated with decreased sensitivity). --- 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