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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation E148Q

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Phase 2 Study of IL-1 Trap (Rilonacept) for Treatment of Familial Mediterranean Fever (FMF)

Familial Mediterranean fever (FMF) is a genetic disease resulting in recurrent attacks of fever, abdominal pain, chest pain, arthritis and rash. There are 5-15% of patients who continue to have FMF attacks despite treatment with colchicine or who cannot tolerate colchicine. Currently there are no alternatives to colchicine. Pyrin, the protein that has a defect in FMF has an important role in the regulation of a molecule called interleukin (IL)-1 beta production and activity. This molecule is very important in the process of inflammation in FMF. Therefore we propose to use IL-1 Trap (Rilonacept), a medication that binds and neutralizes IL-1. We will enroll in this study 17 subjects from the age of 4 years, including adults with active FMF despite colchicine therapy. Subjects will receive in random order two 3-month courses of Rilonacept at 2.2 mg/kg (maximum 160 mg) by weekly subcutaneous injection and two 3-month courses of placebo injection. If patients have at least two FMF attacks during a treatment course they will be able to get if they choose the other treatment until the end of that treatment course. Our hypothesis is that Rilonacept will decrease the number of acute FMF attacks and will be safe to use. This study may confirm the importance of IL-1 in the cause of FMF. Funding source - FDA Office of Orphan Products Development

NCT00582907
Conditions
  1. Familial Mediterranean Fever
Interventions
  1. Drug: Rilonacept
  2. Drug: Placebo
MeSH:Brucellosis Familial Mediterranean Fever Hereditary Autoinflammatory Diseases Fever
HPO:Fever

However, subjects with an isolated heterozygous mutation of exon 2 of the MEFV gene (including E148Q) will not be eligible. --- E148Q ---

Primary Outcomes

Description: Difference in number of attacks per treatment month between rilonacept and placebo

Measure: To Assess the Efficacy of Rilonacept in Decreasing the Number of Acute FMF Attacks.

Time: attacks were assessed at the end of each 3 month treatment course (overall up to 6 month of rilonacept and 6 months of placebo, each)

Description: Differences in adverse events (AEs) between rilonacept and placebo per patient-month of treatment. We separately analyzed injection site reactions and infectious adverse events. Other adverse events were too small in number to analyze. The upper table (and first statistical analysis) regards injection site reactions and lower table (and second statistical analysis) regards infections.

Measure: To Determine if There is a Medically Important Difference Between the Safety Profiles of Rilonacept vs. Placebo.

Time: 12 months of entire study length

Secondary Outcomes

Description: This outcome was the difference in days in the length of attacks between rilonacept and placebo.

Measure: To Determine the Difference in the Length of Attacks During Treatment With Rilonacept vs. Placebo.

Time: 12 months

Description: The percentage of rilonacept and placebo treatment courses without FMF attacks.

Measure: Percentage of Treatment Courses Without FMF Attacks in Rilonacept Courses as Compared to Placebo Courses.

Time: Each treatment course of up to 3 months

Description: Differences between rilonacept and placebo in the percentage of courses that attained at least a 50% decrease in FMF attacks when compared to attacks in the screening period.

Measure: To Determine the Proportion of Courses in Which Subjects Attained at Least a 50% Decrease in Acute FMF Attacks During Rilonacept Courses as Compared to Placebo Courses.

Time: Up to 3 months for each treatment course

Description: In a survival analysis we measured the difference (in days) until the development of the first and second attack within a treatment course of up to 3 months and examined differences in this parameter between rilonacept and placebo. Data regarding the development of the second attack are reported below. In regards to the first attack there were no significant differences between rilonacept and placebo (20 days (7.5,>90)for rilonacept; 15 (8,32) for placebo, P=0.066).

Measure: To Determine Differences in the Time to the Development of Attacks Between the Treatment Arms (Rilonacept vs. Placebo).

Time: 3 months

Description: Erythrocyte sedimentation rate - ESR (mm/h)

Measure: To Determine the Differences in the Erythrocyte Sedimentation Rate Between the Treatment Arms (Rilonacept vs. Placebo).

Time: 3 months (each treatment course, overall 12 months)

Description: Differences between the treatment courses in the C-Reactive Protein levels mg/L

Measure: To Determine the Differences in C-Reactive Protein Between the Treatment Arms (Rilonacept vs. Placebo)

Time: 3 months (each treatment course, overall 12 months)

Description: The difference between the treatment arms in the platelet count X 10 to the power of 9

Measure: To Determine the Differences in the Platelet Count Between the Treatment Arms (Rilonacept vs. Placebo)

Time: 3 months (each treatment course, overall 12 months)

Description: The differences between treatment arms in the fibrinogen level (micromol/L)

Measure: To Determine the Differences in the Fibrinogen Levels Between the Treatment Arms (Rilonacept vs. Placebo)

Time: 3 months (each treatment course, overall 12 months)

Description: The difference between the treatment arms in serum amyloid A levels (mg/L)

Measure: To Determine the Differences in Serum Amyloid A Levels Between the Treatment Arms (Rilonacept vs. Placebo)

Time: 3 months (each treatment course, overall 12 months)

Description: Differences in the health-related quality of life (HRQOL) during treatment with rilonacept vs. placebo. HRQOl was measured by the Childhood Health Questionnaire which was adopted also for adults. There are 2 summary scores: 1. Physical summary score. 2. Psychosocial summary score. The data reported below in the upper table is the physical summary composite score and in the lower table the psychosocial summary composite score. Scores were from 0-100 (higher is better) with a score of 50 representing the mean of the normal population.

Measure: To Determine the Differences in the Quality of Life Between the Treatment Arms (Rilonacept vs. Placebo).

Time: 12 months

Description: Differences in the Armenian Evaluation Score between rilonacept and placebo courses. The Armenian Evaluation Score is a composite score of disease severity based on the frequency, duration and character of attacks (degree of fever and severity of serositis). It was adapted to calculate a score for a 3-month treatment course. The lowest (best) score is 0 and higher values are worse. In theory there is no upper limit to the scale. The total score is reported (there are no subscales).

Measure: To Determine the Differences in the FMF Severity Score of the Subjects Between the Treatment Arms (Rilonacept vs. Placebo).

Time: overall 12 months

Description: The proportion of time within the trial that participants received rilonacept as opposed to placebo. The reason for this outcome is that participants who had at least 2 attacks within an individual treatment course were able to "escape" in a blinded manner to the other treatment arm until the end of that treatment course and then resume the original randomization sequence. Thus participants may have been treated for a longer time with one treatment arm or the other.

Measure: To Determine the Differences in the Proportion of Time Subjects Received Rilonacept vs Placebo

Time: 12 months


HPO Nodes


HP:0001945: Fever
Genes 365
VANGL2 DCLRE1C ZBTB16 AVP PADI4 AK2 ND4 TRNL1 KLRC4 LPIN2 IL12A-AS1 NLRP3 CACNA1A NABP1 IL2RG EDA NUMA1 TSC1 ACAT1 HLA-DRB1 PRNP SPTB CFTR DDB2 CD247 WT1 NTRK1 NLRP3 HBB HMBS LAMA3 CFTR EIF2B5 NLRP12 AVPR2 CALR CHD7 HLA-B MVK STAT4 NLRP3 CCND1 RYR1 RYR1 STING1 TNFRSF1A CTRC MLX HLA-DPB1 XPA PRSS1 UNC13D NCF4 IRF8 GCH1 TRIP13 MPL NCF2 BIRC3 NLRC4 SCNN1A RB1 DIS3L2 CFH LAMC2 GPR35 JAK2 SLC29A3 CYP21A2 ADAR P4HTM TRNL1 PRF1 KIF1B JAK2 STAT5B GATA2 NLRP3 IL6 TRNQ RAG1 NCF1 CD3D COX2 BRCA2 TP53 PSTPIP1 PMM2 TICAM1 TET2 CACNA1S TSC2 HAVCR2 CYBA CTLA4 SCNN1G SPP1 SPTB POU6F2 RAB27A TCF4 STAT3 VANGL2 ATP6 LRRC8A CD244 IGHM NLRP3 TRIM28 CD79A IGLL1 CD79B LIFR FIP1L1 KCNJ1 TRNH BLNK PTPN22 CALR SPTA1 CHEK2 HLA-DRB1 LYST CYP11B2 ERCC3 XIAP CYBB CRLF1 NLRP3 IGH CD3E HLA-DRB1 IGH IL10 COX3 PRSS2 BCOR GLA RARA NLRC4 SLC4A1 MEFV PSMB8 BCL10 ATP13A2 CPT2 RNF168 ND1 PMP22 ND6 BCR MYD88 HLA-B G6PD ATM COL1A1 SLC19A3 EIF2B2 IRF8 ABCC2 CASK SLC22A4 CFHR3 TNFAIP3 GAA MEFV PSAP H19 ND5 FBP1 AQP2 SH3KBP1 IKZF1 SCYL1 CYTB TRNS2 IL2RG MEFV TRNS1 STAT6 COG6 RYR1 RAG2 CYBC1 WDR1 AVPR2 TREX1 IFIH1 ERCC2 GPC3 PRKAR1A ABL1 GYPC ND1 STAT3 BACH2 NOD2 EIF2B4 WIPF1 GALC ERCC5 HBB NGF RNASEH2A CD27 COL1A1 NLRP3 HTR1A ND4 ASAH1 LACC1 ELANE LIFR ND5 PSMB9 MEFV F5 TET2 FAS RIPK1 LPIN1 LAMB3 MTHFR IL7R STXBP2 ORAI1 SPINK1 UBAC2 TCIRG1 COX1 EIF2B1 MYD88 LBR PTPN3 DST GALC MST1 NOD2 STAT4 SLC29A3 ELANE ADA2 POMP TRNV QDPR EIF2B3 MALT1 LACC1 TMEM165 HLA-B TP53 RAG1 RNASEH2C AQP2 SLC12A1 FOXP1 NGLY1 TLR3 MTHFR IGH BCL2 SPTA1 RANBP2 TBL1XR1 MPL NLRP1 SCNN1B SLC11A1 ADAMTS13 ALPL MIF CYBC1 STAT2 KRT18 PSMB4 TLR4 STX11 IRAK1 TRNW UNC93B1 TRNW TH PEX6 BCL6 POLR3A KRT8 PRKAR1A ERAP1 REST TREX1 IBA57 NTRK1 TRNK IFNG EPB41 ELANE NPM1 RAG2 NAB2 TNFRSF1A TRAF3 ND6 HMGCL IRF2BP2 ZFHX2 C4A PML PRTN3 BTK ND2 IL12B RNASEH2B TRNF CFHR1 ANK1 KLHL7 BTNL2 JAK2 RMRP WAS PTPN22 MVK NKX2-1 TCF3 IL12A RUNX1 ELP1 TRIM28 CACNA1S GFI1 SAMHD1 BCAP31 MEFV IL10 CCR1 PIK3R1 ADA WT1 CYP11B2 HAVCR2 LIG4 ATP1A3 IL7R ERCC4 LPIN2 IL36RN EPB42 HMGCL SH2B3 IL23R HLA-DPA1 NFKBIL1 LIPA IFNGR1 SRP54 STIM1 TBK1 ATP1A2 PTS SLC12A3 CIITA HLA-DRB1 XPC PTPN22 ND3