SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT04002765

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Factors of ILD in Newly Diagnosed Rheumatoid Arthritis

To determine factors associated with early RA-ILD (which may be asymptomatic). It is planned to recruit all patients with a newly diagnosed RA (symptoms since less than 3 years). In this study, all relevant demographic and clinical data will be collected. All patients will undergo lung function tests and high-resolution CT-scan of the lungs. Blood sample will be collected for measurement of (1) anti-CCP and rheumatoid factor measurement (good clinical practice) and a specific sample for the detection of the MUC5 promoter variant rs35705950. Our aim is thus to identify determinants of RA-ILD in the following population: - Adults aged 18 to 90 years-old - Diagnosis of rheumatoid arthritis (RA) based on ACR-EULAR 2010 criteria - Onset of disease duration at least 1 year and at most 10 years prior to inclusion

NCT04002765 Rheumatoid Arthritis
MeSH: Arthritis Arthritis, Rheumatoid
HPO: Arthritis Polyarticular arthritis Rheumatoid arthritis

1 Interventions

Name: pulmonary function tests

Description: Lung function tests (standard of care) Dynamic and static volumes (FVC, FEV1, TPC, RV) Lung diffusion capacity for CO (DLCO) Chest Xrays High resolution CT scanner (HRCT)

Type: Diagnostic Test

New RA patients


Primary Outcomes

Description: Detection of an interstitial lung disease associated with RA. We define RA-ILD by the presence of reticulations, ground-glass opacity and/or honeycombing at HRCT not explained by another cause (i.e. cardiac disease, infection or neoplasia).

Measure: Presence of an interstitial lung disease

Time: from enrollment of patient to 3 months post enrollment

Secondary Outcomes

Description: usual interstitial pneumonia, non-specific interstitial pneumonia, others

Measure: Proportion of different ILD subtypes

Time: from enrollment of patient to 3 months post enrollment

Description: Non-ILD lung involvement is a composite of the following variables: rheumatoid nodules, emphysema, bronchiectasis and bronchiolitis obliterans

Measure: Proportion of patients presenting with a non-ILD lung involvement of RA

Time: from enrollment of patient to 3 months post enrollment

Description: Proportion of patients carrying the variant rs35705950 of the MUC5B promoter

Measure: rs35705950 variant of the MUC5B promoter

Time: from enrollment of patient to 3 months post enrollment

Description: Proportion of patients with anti-CCP antibodies

Measure: anti-CCP antibodies

Time: from enrollment of patient to 3 months post enrollment

Description: Proportion of patients with a relevant toxic exposure (smoking, drug, occupational or domestic exposure)

Measure: relevant exposure

Time: from enrollment of patient to 3 months post enrollment

Purpose: Diagnostic

Single Group Assignment


There is one SNP

SNPs


1 rs35705950

Blood sample will be collected for measurement of (1) anti-CCP and rheumatoid factor measurement (good clinical practice) and a specific sample for the detection of the MUC5 promoter variant rs35705950.

rs35705950 variant of the MUC5B promoter.

Proportion of patients carrying the variant rs35705950 of the MUC5B promoter.

Detection of the rs35705950 variant for MUC5B promoter Lung assessment (SOC) 1. Lung function tests (standard of care) 1. Dynamic and static volumes (FVC, FEV1, TPC, RV) 2. Lung diffusion capacity for CO (DLCO) 2. Chest Xrays 3. High resolution CT scanner (HRCT) 1. Good clinical practice (INAMI/RIZIV) 2. Including expiratory slices (detection of early air trapping) Primary outcome Detection of an interstitial lung disease associated with RA.

Secondary outcomes 1. Proportion of different ILD subtypes (usual interstitial pneumonia, non-specific interstitial pneumonia, others) 2. Detection of non-ILD lung involvement of RA including: - Rheumatoid nodules - Emphysema - Bronchiectasis not related to an ILD - Bronchiolitis obliterans 3. Proportion of patients carrying the variant rs35705950 of the MUC5B promoter 4. Proportion of patients with anti-CCP antibodies 5. Proportion of patients with a relevant toxic exposure (smoking, drug, occupational or domestic exposure) 4.4 Expected timeline Start of recruitment: 01-July-2019 End of recruitment: 31-Dec-2022 Based on our local recruitment of RA patients, it is expect to recruit 300 patients.



HPO Nodes


HPO:
Arthritis
Genes 172
COL2A1 HJV COL3A1 IL10 RNASEH2B GDF5 IL12A RAG1 COL5A1 HGD IL12B RAG2 COL5A2 TREX1 DNAJB11 NLRP12 HNF1B COL9A1 TCF3 COL9A2 COL9A3 COL11A1 COL11A2 ATP7B RNF168 ZMPSTE24 UFSP2 ANK1 WAS COMP COMT WIPF1 MLX HLA-B RNASEH2A ERAP1 LEMD3 SLC26A2 HLA-DRB1 GJB6 MATN3 SPTA1 ACP5 SPTB SH3KBP1 TRPS1 PSMB4 BLNK PSMB9 GBA CASP10 PTPN22 IRF5 SAMHD1 EXT1 GCH1 EXT2 OCRL AIP CAV1 LBR PSTPIP1 APOE PFKM GPR101 RREB1 CFI FAS FASLG HNF4A ADAR ADA2 TF ANKRD55 ANKH F8 SLC40A1 KLRC4 F9 JMJD1C MEFV NLRC4 NLRP3 STAT3 STAT4 SLC4A1 HIRA KIF7 TFR2 NOD2 GHR PHEX TGFB3 CCN6 IFIH1 PTPN2 RASGRP1 GJB2 CD247 FBN1 IL36RN GLA SLC12A3 SEC24C LMNA CLCN7 CLCNKB HOXD10 AEBP1 ARVCF DCLRE1C CANT1 LACC1 MYH14 LMX1B MTHFD1 ASAH1 IL12A-AS1 AGA PIK3R1 ACAN HPGD SLCO2A1 HPRT1 IGHM SCARB2 BTK RNASEH2C UFD1 MIF TLR4 LRRC8A UMOD PRKCD CD79A TRPV4 CD79B CCR1 UBAC2 C4A CCN2 CCR6 FGFR3 IGLL1 GNAS LRBA TNFRSF1A MMP13 MUC1 IL2RA SEC61A1 PRG4 IL2RB EPCAM G6PC TNXB SLC37A4 DNASE1L3 ABCG5 IL6 ABCG8 IL23R TBX1 EPB42 MVK ZNF687 SMAD3 KIF22 GP1BB COL1A1 PRPS1 TRAPPC2
Polyarticular arthritis
Genes 13
IL2RA IL2RB PTPN2 ANKRD55 NLRP1 PTPN22 ENPP1 MEFV CD247 STAT4 TNFAIP3 DMP1 NOD2
Rheumatoid arthritis
Genes 14
DCLRE1C IL2RA IL2RB LACC1 PTPN2 ANKRD55 PTPN22 IL6 GCH1 HLA-DRB1 ACP5 CD247 STAT4 MIF