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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation R92Q

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 An Open-label, Multicenter, Efficacy and Safety Study of 4-month Canakinumab Treatment With 6-month Follow-up in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS).

This trial will assess the safety and efficacy of ACZ885 in patients with active recurrent or chronic TNF-receptor associated periodic syndrome (TRAPS).

NCT01242813
Conditions
  1. TNF-receptor Associated Periodic Syndromes (TRAPS)
Interventions
  1. Drug: ACZ885
MeSH:Hereditary Autoinflammatory Diseases Syndrome Fever
HPO:Fever

Patients with low penetrance mutations, such as R92Q or P46L, can be included with mutual agreement between the investigator and Novartis. --- R92Q ---

Primary Outcomes

Description: Complete response was defined as clinical remission and serological remission. Clinical remission was defined as Physician's Global Assessment of TRAPS activity absent or minimal and serological remission was defined as C reactive protein (CRP) and/or Serum amyloid A protein (SAA) to be less than (<) 10 milligram per liter (mg/L). Almost complete response was defined as clinical remission and a partial serological remission (equal to or more than [≥] 70% reduction of baseline CRP and/or SAA).

Measure: Percentage of Participants With Complete or Almost Complete Response at Day 15

Time: Day 15

Secondary Outcomes

Description: Complete response was defined as clinical remission and serological remission. Clinical remission was defined as Physician's Global Assessment of TRAPS activity absent or minimal and serological remission was defined as CRP and/or SAA < 10 mg/L. Almost complete response was defined as clinical remission and a partial serological remission (≥70% reduction of baseline CRP and/or SAA).

Measure: Percentage of Participants With Complete or Almost Complete Response at Day 8

Time: Day 8

Description: Complete clinical remission was defined as Physician's Global Assessment of TRAPS activity to be absent or minimal (1). TRAPS associated clinical signs and symptoms were assessed by the investigator at every visit on a 5-point scale: 0 = Absent; 1 = Minimal; 2 = Mild; 3 = Moderate; 4 = Severe.

Measure: Percentage of Participants With Complete Clinical Remission at Day 8 and 15

Time: Day 8 and Day 15

Description: The CRP and SAA were used as inflammatory markers. The target level concentration was ≤ 10 mg/L.

Measure: Percentage of Participant With Target Levels of C-reactive Protein (CRP) and Serum Amyloid A Protein (SAA) at Day 8 and 15

Time: Day 8 and Day 15

Description: Time period for complete remission after initial canakinumab treatment as assessed by participants was defined as a Physician's Global Assessment of TRAPS symptoms of scale 1 or less. The physician's Global Assessment was based on a 5-point scale: 0 = None/absent ; 1 = Minimal; 2 = Mild; 3 = Moderate; 4 = Severe.

Measure: Time to Physician's Assessed Clinical Remission

Time: Baseline up to Day 15

Description: Participants who had not achieved a complete response at Day 8 were given an additional dose of canakinumab. Complete response was defined as clinical remission (Physician's Global Assessment of TRAPS activity absent or minimal) and serological remission (CRP and/or SAA < 10 mg/L). Almost complete response was defined as clinical remission and a partial serological remission (≥ 70% reduction of baseline CRP and/or SAA).

Measure: Percentage of Participants With Complete or Almost Complete Response at Day 15 After Receiving Additional Dose at Day 8

Time: Day 15

Description: Time period for complete remission after initial canakinumab treatment as assessed by participants was defined as a participant's Global Assessment of TRAPS symptoms of scale 1 or less. The participant's Global Assessment was based on a 5-point scale: 0 = None/absent (no) ; 1 = Minimal; 2 = Mild; 3 = Moderate; 4 = Severe.

Measure: Time to Participant's Assessed Clinical Remission

Time: Baseline up to Day 15

Description: The CRP and SAA were used as inflammatory markers. The target level concentration was ≤ 10 mg/L. Negative percent change in concentration of inflammatory markers indicated improvement.

Measure: Percentage Change From Baseline in C-reactive Protein (CRP) and Serum Amyloid A (SAA) Concentration to End of Study

Time: Day 1 up to Day 953 (End of study)

Description: TRAPS signs and symptoms were assessed in 4 key categories: skin disease (skin rash), eye manifestations, extremity pain (musculoskeletal), and abdominal pain. Participants were assessed for TRAPS associated signs and symptoms a 5-point Physician's global assessment scale: None/absent (no); 1 = Minimal; 2 = Mild; 3 = Moderate; 4 = Severe.

Measure: Percentage of Participants With Defined Grades for Skin Rash, Eye Manifestations, Extremity Pain and Abdominal Pain

Time: Day 113 (end of treatment period) up to Day 925 (End of study)

Description: Participants were assessed based by physician on Physician's Global Assessment measured on a 5-point scale for TRAPS associated signs and symptoms as: 0 = None/absent; 1 = Minimal; 2 = Mild; 3 = Moderate; 4 = Severe.

Measure: Percentage of Participants With Defined Grades in Physician's Global Assessment Score

Time: Day 1 up to Day 953 (End of study)

Description: Participants assessed the disease condition based on a 5-point participant's global assessment scale based on TRAPS associated signs and symptoms as: 0 = None/absent; 1 = Minimal; 2 = Mild; 3 = Moderate; 4 = Severe.

Measure: Percentage of Participants With Defined Grades in Participant's Global Assessment Score

Time: Day 1 up to Day 253 (End of follow-up period)

Description: Relapse was defined as a Physician's Global Assessment score of 2 (and an increase of at least 1 point compared to Day 15) and CRP and/or SAA ≥ 30 mg/L representing a 30% increase from Day 15.

Measure: Percentage of Relapsed Participants

Time: Day 15, 29, 57, 85, 113, 141, 169, 197, 225, 253, 281, 309, 337, 365, 393, 421, 449,477,505, 533, 561, 589, 617, 645, 673,701, 729,757, 785, 813, 841,869, 897, 925 and 953

Description: Relapse was defined as a Physician's Global Assessment score of 2 (and an increase of at least 1 point compared to Day 15) and CRP and/or SAA ≥ 30 mg/L representing a 30% increase from Day 15.

Measure: Time to Relapse After Last Dose of Canakinumab

Time: Day 85 to Day 253 (End of treatment period to Follow-up period)

Description: Participants who relapsed after the last dose of canakinumab and received either corticosteroid treatment or NSAID or both corticosteroid treatment and NSAID as rescue medication.

Measure: Percentage of Participants Who Relapsed and Received Rescue Medication

Time: Day 85 to Day 953 (End of treatment period to End of study)

Description: Canakinumab concentrations in serum were assessed for evaluating pharmacokinetics of the drug.

Measure: Serum Concentration of Canakinumab

Time: Day 3, 8, 15, 29, 57, 85, 113, 141, 169, 197, 225, 253, 281, 309, 337, 365, 393, 421, 449, 533, 561, 589, 617, 645, 673, 729, 785, 841, 897, 925 and 953

Description: Pharmacodynamics of canakinumab was assessed by total IL-1β (sum of free and bound canakinumab) concentration, determined in serum by means of competitive Enzyme-linked immunosorbent assay (ELISA) with limit of detection at 0.25 picogram/milliliter (pg/mL).

Measure: Serum Concentration of Total Interleukin-1β Antibody (IL-1β)

Time: Day 3, 8, 15, 29, 57, 85, 113, 141, 169, 197, 225, 253, 281, 309, 337, 365, 393, 421, 449, 533, 561, 589, 617, 645, 673, 729, 785, 841, 897, 925 and 953

Description: Immunogenicity assessment included determination of anti-canakinumab (ACZ885) antibodies in serum samples using BIAcore system.

Measure: Number of Participants With Anti-canakinumab Antibodies at Any Visit

Time: Day 1 up to Day 953 (End of study)


HPO Nodes


HP:0001945: Fever
Genes 374
NLRP3 PSMB4 CHD7 NABP1 PTPN22 TRNK MTHFR ND6 GALC IGH SCYL1 LIFR TREX1 BCAP31 EIF2B5 G6PD NPM1 ZBTB16 ABCC2 EPB41 CTRC DDB2 CD247 ADAMTS13 POU6F2 ND2 IFNG NTRK1 LAMA3 SCNN1A IKZF1 ND1 SLC29A3 TNFRSF1A RAG2 NLRP3 CFTR CRLF1 TP53 MALT1 CD70 ATM CACNA1S TCF4 SLC19A3 PRSS1 IL12B HLA-DPA1 JAK2 XPA CPT2 PRSS2 CFTR IL10 NAB2 ATP13A2 NCF4 REST WIPF1 NLRP3 NCF2 IGH SPTA1 SCNN1B CHEK2 H19 PTPN3 CYBC1 HTR1A BCOR LAMC2 RYR1 RAG2 TMEM165 RNASEH2C RARA DST IL6 PMM2 NCF1 CYP11B2 CD3D COX1 UNC93B1 RB1 TRAF3 MPL PSMB8 EIF2B4 IL36RN MYD88 GCH1 TH TSC1 GAA CYBA HLA-DPB1 RIPK1 NLRP12 STAT4 SPTA1 MLX TRIP13 AVP CFHR1 ELANE MPL AVPR2 P4HTM ND4 IGLL1 MST1 SLC22A4 PTS LPIN1 TRIM28 TCF3 HNRNPK IGHM CD79A PIK3R1 NOD2 MTHFR RANBP2 RYR1 LACC1 AVPR2 STAT5B STXBP2 TRNW CD79B CTLA4 NLRP3 TET2 SPTB EIF2B2 HAVCR2 HLA-DRB1 ERCC3 CYBB CD3E BCL2 DIS3L2 FOXP1 IL23R COX2 SPINK1 STAT3 GLA PRKAR1A KCNJ1 RNF168 COX3 IL7R NLRP3 TRNV FBP1 STAT2 HBB IGH GALC STX11 MEFV SLC12A3 BACH2 LPIN2 STAT3 ATP1A2 CFH CALR SLC35C1 WT1 LIFR PEX6 TRNW PRTN3 EPB42 HMGCL MEFV NOD2 HLA-B TRNS1 DCLRE1C NGLY1 IBA57 TLR4 TRNH JAK2 RAG1 ORAI1 PMP22 CYBC1 MVK AQP2 PRNP ATP1A3 CACNA1A TREX1 MEFV GATA2 ERCC2 BRCA2 OTULIN BCR ND5 IRF2BP2 IFIH1 IFNGR1 WAS RYR1 CASK NLRC4 PSAP ERCC5 ZFHX2 NLRP3 SAMHD1 COL1A1 ND1 SH3KBP1 ASAH1 SLC29A3 LACC1 TCIRG1 ND4 TNFRSF1A MEFV ACAT1 STING1 STAT4 EDA SRP54 ELP1 LAMB3 VANGL2 RMRP IRF8 IRAK1 C4A QDPR TRNQ COL1A1 KLHL7 CCND1 CCR1 UNC13D EIF2B1 UBAC2 BTK BIRC3 HNRNPK MEFV CD27 TP53 ADA RNASEH2B FAS NLRC4 CFHR3 PSMB9 BCL10 TNFAIP3 PRF1 TICAM1 ND3 VANGL2 PSTPIP1 BCL6 SLC4A1 NUMA1 PADI4 CACNA1S JAK2 HMBS TRNT1 CYP21A2 SCNN1G F5 MIF NTRK1 EIF2B3 ALPL ITK CALR ERAP1 RAB27A WDR1 HBB SPP1 MYD88 TRNL1 TLR3 ADA2 LBR IRF8 HLA-DRB1 PTPN22 TET2 STIM1 KIF1B LYST PML TRIM28 TRNF ADAR NLRP3 GYPC FIP1L1 RAG1 STAT6 TBK1 ELANE ND5 HAVCR2 HMGCL TBL1XR1 COG6 KLRC4 PTPN22 AQP2 XIAP ND6 HLA-B RNASEH2A TRNS2 IL2RG SPTB NLRP1 POLR3A HLA-DRB1 LIG4 AK2 IL10 HLA-DRB1 PRKCD MVK NKX2-1 KRT18 LRRC8A SLC12A1 IL12A-AS1 ABL1 KRT8 GPC3 ELANE LPIN2 GPR35 CYP11B2 CIITA RUNX1 BLNK TSC2 WT1 IL2RG IL7R ERCC4 ATP6 ANK1 SH2B3 IL12A CD244 LIPA RAB27A GFI1 NGF SLC11A1 CYTB POMP NFKBIL1 BTNL2 XPC HLA-B TRNL1 PRKAR1A