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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation P46L

Developed by Shray Alag, 2020.
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 --- --- P46L ---

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 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