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Report for Clinical Trial NCT04144257

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Role of Microglial Activation and Norepinephrine Transporter Abnormalities in Pathogenesis of MS-related Fatigue

The overarching aim is to assess the role of microglial activation and norepinephrine transporter binding in pathogenesis of MS-related fatigue, using novel Positron Emission Tomography (PET) radiotracers, [F-18]PBR06 and [C-11]MRB. Specific Aims: Specific Aim 1: To determine the relationship of cerebral microglial activation, as assessed by [F-18]PBR06 PET, with MS-related fatigue. Specific Aim 2: To determine the relationship of norepinephrine transporter (NET) binding, as assessed by [C-11]MRB PET, with MS-related fatigue. Specific Aim 3: To determine the relationship of microglial activation and NET binding, with grey matter pathology (lesion load and brain atrophy) assessed using 7T MRI, and evaluate their independent contribution in development of MS-related fatigue.

NCT04144257 Multiple Sclerosis
MeSH:Multiple Sclerosis Fatigue
HPO:Fatigue

2 Interventions

Name: [F-18]PBR06

Description: PET radiopharmaceutical. Subjects will undergo [F-18]PBR06-PET (microglial activation).
Type: Drug
Group Labels: 1

Subjects diagnosed with Multiple Sclerosis (MS)

Name: [C-11]Methylreboxetine

Description: PET radiopharmaceutical. Subjects will undergo [C-11]MRB-PET (norepinephrine transporter binding).
Type: Drug
Group Labels: 1

Subjects diagnosed with Multiple Sclerosis (MS)


Primary Outcomes

Description: PET outcome measure

Measure: Standardized Uptake Value (SUV)/Standardized Uptake Value Ratio (SUVR)

Time: Baseline

Secondary Outcomes

Description: Clinical outcome measure; Physical subscale range: 0-36; Cognitive subscale range: 0-40; Psychosocial subscale range: 0-8; Total MFIS Score scale range (Subscales Summed): 0-84; Higher values represent worse outcomes.

Measure: Modified Fatigue Impact Scale (MFIS)

Time: Baseline

Description: PET outcome measure

Measure: Binding Potential (BPnd)

Time: Baseline

Description: MRI outcome measure

Measure: MRI grey matter lesional load/brain atrophy

Time: Baseline

Description: PET outcome measure

Measure: Tissue Volume of distribution (Vt)/Distribution Volume Ratios (DVR)

Time: Baseline

Description: MRI outcome measure

Measure: MRI global/regional volumetrics

Time: Baseline

Purpose: Diagnostic

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 T25W

Clinical Data The following non-imaging, clinical data will be obtained: Modified fatigue Impact Scale (MFIS) Fatigue Severity Status Scale (FSSS) Expanded Disability Status Scale (EDSS) Timed 25-feet walk (T25W) MS Functional Composite (MSFC) Symbol digit modalities test (SDMT) MSQOL-54 scale (QOL) Pittsburgh Sleep Quality Index (PSQI) Beck's Depression Inventory (BDI) Center for Epidemiological Studies-Depression Scale (CES-D) Hospital Anxiety and Depression Scale (HADS) --- T25W ---



HPO Nodes


HPO:
HP:0012378: Fatigue
Genes 404
IYD ATP7A TLR3 TET2 PAX8 ERCC4 COL1A1 TNFSF15 MLX SCNN1A TCF4 GPR101 TAZ OPTN TWNK RRM2B MC2R TSR2 MYH7 IL12A TRNL1 TBX19 SDHC BCL10 PTPN3 PPARGC1A MST1 MALT1 SLC2A10 AIP IL12A-AS1 CDH23 ERAP1 RPS20 SQSTM1 CFI FOXP1 UNC93B1 RPL15 SCN2A ND1 HBA1 COL1A2 MEN1 NAB2 RPS10 HFE COX2 GCH1 UBQLN2 KRAS PALB2 SEMA4A FUS PAX8 ACADM DYSF PDE11A IGH LHX3 TG MATR3 SLC3A1 NR3C1 HELLPAR TRNQ SLC25A26 VHL PROP1 RPL35 CD46 MLH1 TSHR MEFV CHRND FIG4 ABL1 SDHD IL12A KIF23 HLA-DRB1 TRNS1 RPL26 CHMP2B FGFR1 STAT3 POLG2 TSC1 ALB AGK TET2 TNPO3 SLC25A4 ATXN2 MET GLA HBA2 ARMC5 SLC25A11 BIRC3 IRF2BP2 RPS19 RPL35A GCK HLA-DPA1 PDE8B STAT4 PIGA COL5A2 PRRT2 NNT BCOR ALAS2 PIEZO1 BRCA2 ATP13A2 VPS13A WAS SDHD NFKB2 SOX3 TGFBR2 RPS24 HMGCL SLC4A1 SH2B3 VCP COX1 TET2 GATA2 ZBTB16 NUMA1 DCTN1 TXNRD2 ND5 TAF15 CPT2 ND4 KCNN4 BCL6 TSHB XPA RPS27 RPS26 PTPN22 KIT STAT5B PON1 ERCC5 ALB FOXA2 XPC RPS28 AP2S1 MPL ELANE CCR1 PROP1 PRPH RPS7 RUNX1 ABCC2 HNF1A KIT TICAM1 SLC18A3 HLA-DRB1 POMGNT1 NABP1 TREM2 ATP13A2 HNF4A WIPF1 PHKG2 CDKN2A SCNN1B PFN1 FGF23 ND6 CTLA4 PRTN3 RARA TSHR SCNN1G C9ORF72 RPL27 CPT1A CCND1 HLA-B NLRC4 BRCA1 SOD1 GLT8D1 TRNF ANG GLE1 EPAS1 NEK1 PIGT SLC26A4 NLRP3 SLC18A2 RPL11 ATRX HAVCR2 KLRC4 NPM1 GLI2 TK2 LRRC8A PRKAR1A RPS29 MRAP NLRP3 FIP1L1 USP8 KIF1B TWNK PML SCN8A SERPINA6 VHL TBL1XR1 CD79B LBR JAK2 SMAD3 MDH2 ARMC5 MMADHC RPL18 TARDBP DNM1L PODXL SOX2 MMACHC JAK2 ARNT2 SLC40A1 BCL2 STAT6 CAV3 POU2AF1 CD79A UNC13A TBK1 SDHC BCR ERCC3 RPL5 PDGFRA BLNK TCF3 TPO CFAP410 IGH HLA-B HLA-DPB1 VAPB INSR DLST ERCC2 C1QBP DBH CCNF RPS17 TMEM127 STAR IL12RB1 IRF5 C4A PROKR2 BMPR1A UBAC2 CALR PTPN22 NKX2-5 TSC2 RPL31 IL23R PLEC PMS1 CPT2 NKX2-1 ERBB4 COQ2 FOXE1 BTK MSH6 EPOR STEAP3 PIK3CA KCNQ3 PIK3R1 KCNE1 SLC12A3 POLG RET VHL KCNQ2 SDHB DDB2 SYNJ1 TLR4 KCNQ1 PROP1 CDH23 RPS15A EPCAM SDHB KRAS SDHAF2 HESX1 SLC5A5 TRAF3 DUOX2 IL10 ATM GNAS IGH TNXB PREPL SDHA PMS2 GBA SMAD4 ADA2 AIP MORC2 POU1F1 HLA-B CDC73 DUOXA2 TRNW COX3 LHX4 MYD88 TFR2 COL5A1 BTNL2 NEFH TRNH OPA1 FH IKZF1 PHKA2 DAO NLRC4 GPR35 SLC11A1 PON3 CCDC78 DNAJC6 HESX1 TRNS2 NR3C1 SMAD3 PNPLA8 TP53 PGM1 CDH23 CHCHD10 PRKACA HESX1 FAN1 CDC73 IL12B MAX POU1F1 FAS MEN1 HNRNPA1 PSTPIP1 PALLD TBK1 CTNNB1 NAGS CCND1 EPHA4 OTX2 SDHB OTX2 MSH2 PON2 JAK2 MMEL1 RET SDHA PRKAR1A GATA1 SOX3 IGHM MLH3 CFH FTL IGLL1 ANXA11 SPIB LHX4 TET2 MPL DMD SLC26A4 TRNK
Protein Mutations 3
T25W V158M V18M
SNP 0