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Report for Clinical Trial NCT00125281

Developed by Shray Alag, 2020.
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: Liver Cirrhosis Liver Cirrhosis, Biliary Fibrosis
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 21
POU2AF1 LBR TNFSF15 DCTN4 NPHP3 IL12RB1 TGFB1 TGFB1 SPIB IRF5 CLCA4 MMEL1 FCGR2A NPHP3 DCDC2 CFTR CFTR WDR35 IL12A STX1A TNPO3
Cirrhosis
Genes 164
TTC37 TMEM67 GDF2 ATP7B F5 MPV17 HJV IGF2R SLC40A1 POLG ARHGAP31 CCDC115 ATP8B1 BSCL2 HFE TREX1 TTC37 JAK2 BCS1L TFR2 AGPAT2 ACVRL1 TERC FOS POU2AF1 APOE TYMP SLC30A10 BSCL2 CTC1 NOP10 UROD CAV1 INPP5E NOTCH1 TP53 ENG NHP2 FECH DOCK6 LIPA KRT8 SKIV2L RPGRIP1L SMAD4 PPARG LIPA TFAM NGLY1 TERC RPGRIP1L AP1S1 MARS1 DCDC2 SKIV2L RTEL1 GPC1 PARN BSCL2 ALMS1 TERT KRT18 SERPINA1 GBA TNFSF15 HSD3B7 ATP7B ABCB11 SFTPC GALT GLRX5 USB1 PEX1 HFE ITCH TINF2 ALDOB IL21R AKR1D1 F5 GPR35 SLC25A13 ENG TMEM67 CYP7B1 MPI APC TERC TALDO1 CTNNB1 TERT SLC7A7 NR1H4 GBE1 HSD3B7 JAG1 CASP8 HFE BMP2 HAMP CC2D2A EOGT FARSB COG4 TERT SCARB2 ABCB4 CAVIN1 SMPD1 MUC5B RBPJ TALDO1 PIGA AXIN1 TCF4 NPM1 COG4 WRAP53 AP1B1 IL12A LBR JAK2 ASS1 TINF2 DKC1 PHKG2 NPHP3 TRMT5 DKC1 FAH SPIB PHKG2 AGPAT2 DGUOK HBB MST1 ATP6AP1 COG6 ABHD5 PHKA2 SLC40A1 PPARG PDGFRL ACVRL1 DLL4 SLC30A10 IL12RB1 AMACR KRT18 IRF5 SFTPA2 IFT43 MET PIK3CA TREX1 MMEL1 KRT8 PPARG RRM2B TERT NHP2 CC2D2A POLG TNPO3
Hepatic fibrosis
Genes 140
CSPP1 TTC37 DYNC2H1 BBS9 TMEM67 MET IFT122 DZIP1L TMEM67 SLC40A1 WDPCP ARHGAP31 ABCB4 TTC37 GPD1 WDR35 NPHP3 POU2AF1 BBS10 SDCCAG8 C8ORF37 IQCB1 DLL4 PLIN1 BBS1 WDPCP SLC25A13 CEP290 NOP10 INPP5E NOTCH1 SCYL1 PTRH2 DOCK6 TMEM67 BBS7 CC2D2A SKIV2L RPGRIP1L DCDC2 TCTN2 LIPA TMEM67 IFT172 PMM2 NPHP3 RPGRIP1L CTNNB1 AP1S1 PKHD1 WDR35 GPC1 TTC8 NEK1 B9D1 PMM2 TNFSF15 RPGRIP1 NPHP1 BBIP1 INSR FADD INVS OFD1 CCDC28B PEX1 MKS1 PNPLA6 NEK8 CC2D2A LZTFL1 INPP5E RPGRIP1L ANKS6 GPR35 NPHP4 TMEM67 CEP290 MPI TMEM231 IFT80 MPI ARL6 AGL WDR60 CEP55 ASL ALG9 CC2D2A EOGT BBS2 MKKS IFT27 GLIS3 BBS5 INSR CEP290 TRIM32 ABCD3 TRAF3IP1 TMEM107 SDCCAG8 BBS1 DOLK MKS1 RBPJ TALDO1 TCF4 IL12A NPHP1 NHP2 WDR19 TMEM67 HJV HAMP TRAF3IP1 CYP7B1 NPHP3 SPIB PHKG2 IFT140 DGUOK MST1 B9D2 PHKA2 SLC40A1 WDR34 BBS4 PKHD1 TMEM216 SCYL1 DLL4 CEP164 IL12RB1 IRF5 MMEL1 BBS12 IFT172 CC2D2A TNPO3