SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00125281

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

S-Adenosyl Methionine for Symptomatic Treatment of Primary Biliary Cirrhosis

This study will examine the effect of S-adenosyl methionine (SAMe) on itching and fatigue in patients with primary biliary cirrhosis, a disease of the small bile ducts in the liver. Ursodiol, the only currently available treatment for biliary cirrhosis, does not cure the disease, and many people continue to have symptoms or liver test abnormalities despite treatment. SAMe is a naturally occurring substance found in most cells of the body. The highest levels of the substance are produced by the liver, where it helps to rid the body of toxins and breakdown products of metabolism. Studies in Europe suggest that SAMe may help to: 1) decrease the fatigue and itching that are common in persons with liver problems, and 2) decrease levels of liver enzymes in the blood, suggesting that it may decrease the amount of liver injury. Patients 21 years of age or older with primary biliary cirrhosis who are taking ursodiol and have symptoms of itching or fatigue may be eligible for this study. Candidates are screened with a medical history, physical examination, review of medical records, routine blood tests, and a symptoms rating scale. Participants stop all medications for itching 4 weeks before starting the study, but continue to take ursodiol during the 42-week trial. On entering the study, patients are assigned to take either SAMe or placebo tablets twice a day for 12 weeks. While taking the medications, they are followed in the clinic every 2 weeks for the first month and then every 4 weeks to fill out symptoms questionnaires and have a short medical evaluation and blood tests. At the end of 12 weeks, treatment is interrupted for a 2-week "wash-out" period, after which patients begin a 12-week crossover treatment; that is, patients who were taking SAMe are switched to placebo, and those who were taking placebo are switched to SAMe. After completing the second 12-week treatment course, patients come to the clinic at 4, 8, and 12 weeks to fill out symptoms questionnaires and have a medical evaluation and blood tests. At the last visit, patients are told which type of tablet they received during the two courses of treatment. SAMe is available without prescription in many forms as an over-the-counter medication.

NCT00125281 Liver Cirrhosis, Biliary
MeSH: Fibrosis Liver Cirrhosis Liver Cirrhosis, Biliary
HPO: Biliary cirrhosis Cirrhosis Hepatic fibrosis

1 Interventions

Name: S-adenosyl-methionine (SAMe) capsules

Type: Drug


Primary Outcomes

Measure: Improvement in symptoms as assessed by validated questionnaires and visual analogue scales administered at 2 to 4 week intervals during therapy.

Time: 12 weeks of therapy

Secondary Outcomes

Measure: Improvement in serum alanine aminotransferase and alkaline phosphatase.

Time: 12 weeks

Purpose: Treatment

Allocation: Randomized

Crossover Assignment


There are 2 SNPs

SNPs


1 C282Y

Hemochromatosis as defined by presence of 3+ or 4+ stainable iron on liver biopsy and homozygosity for C282Y or compound heterozygosity for C282Y/H63D. --- C282Y ---

Patients with iron saturation indices of greater than 45% and serum ferritin levels of greater than 300 ng/ml for men and greater than or equal to 250 ng/ml for women will undergo genetic testing for C282Y and H63D. --- C282Y ---


2 H63D

Hemochromatosis as defined by presence of 3+ or 4+ stainable iron on liver biopsy and homozygosity for C282Y or compound heterozygosity for C282Y/H63D. --- C282Y --- --- H63D ---

Patients with iron saturation indices of greater than 45% and serum ferritin levels of greater than 300 ng/ml for men and greater than or equal to 250 ng/ml for women will undergo genetic testing for C282Y and H63D. --- C282Y --- --- H63D ---



HPO Nodes


HPO:
Biliary cirrhosis
Genes 17
TGFB1 SPIB WDR35 IL12A IL12RB1 POU2AF1 TNFSF15 TNPO3 IRF5 DCDC2 CLCA4 STX1A NPHP3 CFTR LBR MMEL1 DCTN4
Cirrhosis
Genes 119
HJV HFE MPV17 IL12A TMEM67 IL12RB1 TREX1 TCF4 KRT8 DCDC2 GLRX5 EOGT ATP6AP1 RPGRIP1L ATP7B GALT SPIB KRT18 USB1 PDGFRL RTEL1 DLL4 SFTPC CTC1 GPR35 MARS INPP5E AMACR FOS RRM2B POLG AGPAT2 AKR1D1 APC GBA PEX1 FARSB GBE1 CASP8 POU2AF1 IRF5 ATP8B1 CAV1 LBR APOE CCDC115 PPARG ACVRL1 WRAP53 SLC7A7 TYMP GDF2 NHP2 SKIV2L TERC TERT BCS1L F5 TFAM SLC40A1 IFT43 AXIN1 ABCB4 TFR2 JAK2 MST1 FAH MET PHKG2 HSD3B7 SERPINA1 LIPA AP1S1 NPHP3 IGF2R ABHD5 MMEL1 SFTPA2 PIGA ALMS1 TINF2 COG6 ARHGAP31 PIK3CA TTC37 DGUOK SLC25A13 JAG1 SCARB2 IL21R FECH RBPJ ASS1 ABCB11 DKC1 CC2D2A CYP7B1 PARN NOP10 CAVIN1 BSCL2 HAMP CTNNB1 UROD TRMT5 HBB DOCK6 ALDOB ENG TALDO1 SLC30A10 TNFSF15 TNPO3 COG4 NR1H4 NOTCH1 TP53 SMAD4 MPI
Hepatic fibrosis
Genes 103
HJV MKKS GPD1 NPHP1 IL12A RPGRIP1 TMEM67 IL12RB1 IFT27 TCF4 IFT140 DCDC2 ANKS6 EOGT RPGRIP1L OFD1 SPIB TRAF3IP1 WDR34 DLL4 DYNC2H1 GPR35 INPP5E IFT172 SDCCAG8 DZIP1L LZTFL1 CEP290 TMEM216 INSR DOLK SCYL1 GLIS3 BBIP1 FADD PEX1 BBS1 BBS2 WDR60 BBS4 POU2AF1 IRF5 BBS5 TMEM107 NHP2 NPHP4 BBS9 SLC40A1 WDPCP CEP164 MKS1 BBS10 ABCB4 CEP55 WDR19 ARL6 MST1 TTC8 MET B9D2 NEK1 LIPA AP1S1 NPHP3 MMEL1 PNPLA6 ARHGAP31 TRIM32 BBS7 AGL NEK8 ASL TTC37 DGUOK ALG9 IQCB1 RBPJ ABCD3 PKHD1 WDR35 PTRH2 B9D1 CC2D2A CYP7B1 NOP10 IFT122 IFT80 HAMP CTNNB1 C8ORF37 TMEM231 PLIN1 DOCK6 TALDO1 BBS12 CSPP1 TNFSF15 TNPO3 NOTCH1 INVS TCTN2 PMM2 MPI