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Report for Clinical Trial NCT01378299

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

CYP19A1 Gene and Pharmacogenetics of Response

Testosterone (T) replacement prevents bone loss and relieves symptoms associated with androgen deficiency in male patients with hypogonadism, but at the expense of an increase in prostate-related adverse events and in the hematocrit values above the normal which may lead to bad circulatory outcomes. Most of the effects of T on the male skeleton are mediated by its conversion to estradiol (E2) by the enzyme aromatase. Genetic variations in the aromatase (CYP19A1) gene result in enzymes with variable activity and variable levels of E2 and T. This project is designed to determine if genetic variations in the CYP19A1 gene will result in differences in the skeletal response and incidence of side effects from T treatment in patients with low T. A large number of male Veterans are on T. Results from this project will help identify patients who would benefit from the therapy from those at risk for side effects, and would definitely have an impact in the future care of these patients and male patients in general once genetic profiling becomes part of the standard of care.

NCT01378299 Hypogonadism
MeSH:Hypogonadism
HPO:Gonadotropin deficiency Hypergonadotropic hypogonadism Hypogonadism Hypogonadotropic hypogonadism

1 Interventions

Name: Testosterone Cypionate

Description: Testosterone cypionate was administered at 200 mg by intramuscular injection every 2 weeks. DEPo-Testosterone Injection, for intramuscular injection, contains testosterone cypionate which is the oil-soluble 17 (beta)-cyclopentylpropionate ester of the androgenic hormone testosterone. Testosterone cypionate is a white or creamy white crystalline powder, odorless or nearly so and stable in air. It is insoluble in water, freely soluble in alcohol, chloroform, dioxane, ether, and soluble in vegetable oils. The chemical name for testosterone cypionate is androst-4-en-3-one,17-(3-cyclopentyl-1oxopropoxy)-, (178)-. Its molecular formula is CvH400a, and the molecular weight of 412.61.
Type: Drug
Group Labels: 1

Arm 1: Testosterone Cypionate


Primary Outcomes

Description: Percent change in bone mineral density from baseline to 18 months

Measure: Percent Change in Bone Mineral Density (BMD) According to rs700518 Polymorphism in the CYP19A1 Gene

Time: form baseline to 18 months

Description: Percent change in bone mineral density from baseline to 18 months.

Measure: Percent Change in Bone Mineral Density (BMD) According to the rs1062033 Polymorphism in the CYP19A1 Gene

Time: baseline to 18 months

Secondary Outcomes

Description: Percent changes in bone mineral density from baseline

Measure: Percent Change in Bone Mineral Density According to Body Mass Index (BMI)

Time: baseline to 18 months

Description: Percent change in PSA from baseline to 18 months

Measure: Percent Change in Prostate-specific Antigen (PSA) According to the rs700518 Polymorphism of the CYP19A1 Gene

Time: From baseline to 18 months

Description: Percent change in PSA from baseline at 18 months

Measure: Percent Change in Prostate-specific Antigen (PSA) According to the rs1062033 Polymorphism of the CYP19A1 Gene

Time: from baseline to 18 months

Description: Percent change in hematocrit from baseline to 18 months

Measure: Percent Change in Hematocrit According to the Genotype of the 700518 Polymorphism of the CYP19A1gene

Time: baseline to 18 months

Description: Percent change in hematocrit from baseline to 18 months

Measure: Percent Change in Hematocrit According to re1062033 Polymorphism of the CYP19A1 Gene

Time: Baseline to 18 months

Description: Percent change in gene expression from baseline to 18 months

Measure: Percent Change in Aromatase Gene Activity From the Buffy Coat According to the 700518 Polymorphism of the CYP19A1 Gene

Time: Baseline to 6 months

Description: Percent change in bone turnover from baseline to 18 months.

Measure: Percent Change in Bone Turnover Markers According to the rs700518 Polymorphism of the CYP19A1 Gene

Time: Baseline to 18 months

Description: Percent change in bone turnover markers

Measure: Percent Change in Bone Turnover Markers According to the rs1062033 Polymorphism of the CYP19A1 Gene

Time: Baseline to 18 months

Description: Percent change in bone mineral density from baseline to 18 months

Measure: Percent Change in Bone Mineral Density According the Presence of Diabetes Mellitus

Time: Baseline to 18 months

Description: Percent change in bone turnover markers from baseline to 18 months.

Measure: Percent Change in Bone Turnover Markers According the Presence of Diabetes Mellitus

Time: Baseline to 18 months

Purpose: Other

Allocation: N/A

Single Group Assignment


There are 2 SNPs

SNPs


1 rs1062033

Percent Change in Bone Mineral Density (BMD) According to the rs1062033 Polymorphism in the CYP19A1 Gene.

Percent Change in Prostate-specific Antigen (PSA) According to the rs1062033 Polymorphism of the CYP19A1 Gene.

Percent change in bone turnover from baseline to 18 months.. Percent Change in Bone Turnover Markers According to the rs1062033 Polymorphism of the CYP19A1 Gene.


2 rs700518

Percent Change in Bone Mineral Density (BMD) According to rs700518 Polymorphism in the CYP19A1 Gene.

Percent Change in Prostate-specific Antigen (PSA) According to the rs700518 Polymorphism of the CYP19A1 Gene.

Percent Change in Bone Turnover Markers According to the rs700518 Polymorphism of the CYP19A1 Gene.



HPO Nodes


HPO:
HP:0000135: Hypogonadism
Genes 517
CTDP1 BBS10 HGSNAT RP1 ERCC4 DMXL2 NR0B1 GNRH1 DMRT1 LAS1L GPR101 NECTIN1 CCDC141 IER3IP1 TWNK SIX6 CHD7 PREPL MAK TACR3 FEZF1 IFT172 BEST1 SOX10 FSCN2 GABRD PWRN1 ATM CRX FGF8 FLRT3 BBS2 CRB1 FGF17 HESX1 CCDC141 SOX10 RP9 POLR3A POLR3A ZBTB20 AIP STS RECQL4 WFS1 VAMP7 CHD7 CDH23 POLG MYH3 CUL4B SCP2 GNAS PDE4D SUFU PRPF4 TUB RHO KISS1R TAC3 INPP5K HBB HS6ST1 HFE LZTR1 TP63 SOS1 SAG STUB1 SDCCAG8 USH2A PRPF6 RIT1 FSHB CNGA1 IFT74 RAD51 MERTK FGF17 STEAP3 WWOX PDE11A PHF6 PROK2 XRCC2 ARHGEF18 SIL1 SLC29A3 IDH3B RECQL4 LMNA PRPF3 SLC7A14 POLE HSD17B3 SIN3A SGPL1 ANTXR1 RAF1 PROP1 PTDSS1 PALB2 PHGDH SNORD116-1 FMR1 IPW NR5A1 FANCE LHCGR WT1 POLD1 AMACR RAD51 ITGB6 ALMS1 PSAT1 PROK2 PRLR CTNNB1 ERCC3 HDAC8 SCAPER PRCD SEMA3E RAB3GAP2 PROKR2 PCARE POLR3B SMCHD1 SRY POLR3B FGF8 DHDDS ERCC6 ZFPM2 FANCD2 SOX2 LEPR BBS12 MAP3K1 ZNF513 ERCC2 DCC SLC52A2 FANCC LEP GUCA1B BBIP1 TACR3 PDE8B LMNA GATA4 BCS1L SNORD115-1 ERCC5 PNPLA6 NRAS BMP2 BBS1 SUFU NR5A1 ERCC4 MKKS GNAS SDCCAG8 ROM1 SOX3 KISS1 C8ORF37 PDE6B PTPN11 POLR3A CTNS DNAL4 PROKR2 MAP2K1 CYP17A1 BRCA1 PROP1 CDKN1C PDE6G RFWD3 BRAF HS6ST1 RGR FGFR1 PROM1 SEMA4A CNBP XPA ARL6 ERCC2 LMNA ABCA4 MAGEL2 FGF17 ELN ERCC5 TULP1 TGFB1 DCC CUL4B PMM2 FOXA2 REEP6 FGF17 XPC PRKAR1A FANCB CTDP1 FANCA PDGFB PTCH1 FANCC HJV DHX38 WRN NSMF BMP15 MAD2L2 MRPS7 HDAC8 NPHP1 RP2 WRN RLBP1 KISS1 AR BMP4 RFC2 TWNK PROK2 KRAS PLXND1 PTPN11 PHGDH IGF1 GNRHR GNRH1 STUB1 ARL3 IFT88 ARSL BCS1L OFD1 DCAF17 MKRN3-AS1 MAP3K1 LAS1L SPRY4 FEZF1 PMM2 GALT BBS7 BBS2 USP7 RDH12 CHD7 PRDM16 CYP17A1 IDH3A SOX9 BBS9 GLI2 ALG1 DHH TACR3 SKI CLPP CYP19A1 POMGNT1 KCNAB2 CHD7 POLG CISD2 CAMKMT IFT27 LIMK1 TBL2 LZTFL1 SRY UBE2T LSS SLC29A3 ZMPSTE24 RBM28 ARL2BP IMPG2 PPM1B POLR3B ZBTB20 RBP3 PROKR2 KIZ SLC3A1 PRPF8 SLC39A4 TOPORS DNM1L BBS4 RERE WT1 RPGR SIL1 RASA2 FANCE HERC2 RIN2 EIF2S3 PEX1 FANCL FAM161A LEPR CHD7 WFS1 PTCH2 GNAS DUSP6 REV3L BBS10 FGF8 RBM28 BBS1 TAC3 RRAS SMARCB1 TRIM32 WDR11 CLIP2 ERCC8 BRIP1 RAB3GAP1 SPRY4 ERCC3 RIN2 FANCF NR2E3 FGFR1 KIAA1549 ANOS1 KLHL7 DUSP6 CNGB1 POLR3B HAMP ERCC2 CEP290 SOX10 AGBL5 RAB3GAP2 DUSP6 LMNA CA4 BBS12 KISS1R LHB EYS NEK2 MAGEL2 CERKL GNAS COQ2 NR0B1 FANCA GLI2 MKS1 NTN1 TTC8 NSMF MKRN3 STEAP3 BRAF NSMF SOS2 FANCM RRAS2 IL17RD CCDC28B GNRH1 DDB2 FGFR1 PROP1 PEX6 IFT27 SOX9 NR0B1 NDN ABCD1 ANOS1 TRIM32 ZNF408 CYP19A1 ATRX ANK1 AXL SMCHD1 MGME1 ANOS1 SOX9 RNF216 FANCD2 ALMS1 ARL6 FLRT3 BBS2 CDHR1 PRPF31 AIP SRY ALG1 BRCA2 WDR11 HAMP SEMA3A SNAP29 RAD51C MGME1 TWNK DMXL2 GTF2I PRKAR1A SEMA3E RNU4ATAC POLR3A LRAT PRKAR1A PRPH2 TYMP IFT172 IL17RD TFR2 SAMD9 CLRN1 SLX4 OPA1 PNPLA6 ERCC1 LZTFL1 MRE11 HFE NRL DMRT3 SRA1 CBL PDE6A BBS4 PCSK1 KISS1R TP53 DMPK AIRE FANCG PDE4D RNF216 FANCI TTC8 GJB2 SNRPN BMPR1B TRAF3IP1 PWAR1 RPE65 PNPLA6 ATRX CDH23 TTC8 IL17RD AHSG PRKACA AHI1 HESX1 RRM2B SPATA7 NPAP1 BBS5 BAZ1B SNRNP200 POU1F1 POLA1 AHR CHRNG CYB5A MEN1 GNRHR FANCB HJV WDPCP BBS5 CBX2 SLC52A3 SOX3 FSHB OTX2 PNPLA6 CCDC141 PRKAR1A FEZF1 IMPDH1 MRAS IFT140 DCAF17 ALX4 NR0B1 NF2 WT1 DHH LEP LHX4 SEMA3E POLR1C SMAD4 WDR11 SPRY4 C8ORF37 GTF2IRD1 A2ML1 NR5A1
Protein Mutations 0
SNP 0