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Report for Clinical Trial NCT01705626

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

TTR-FAP Screening - Screening for the Transthyretin-Related Familial Amyloidotic Small Fiber Polyneuropathy - a International, Multicentre, Epidemiological Protocol

The goal of this study is to investigate the prevalence of Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP) in a cohort of 500 subjects at risk for TTR-FAP, based on the subject's clinical presentation.

NCT01705626 Transthyretin Amyloidosis Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy Polyneuropathies
MeSH: Polyneuropathies Amyloid Neuropathies Amyloid Neuropathies, Familial Amyloidosis
HPO: Amyloidosis Lattice corneal dystrophy Motor polyneuropathy Polyneuropathy



Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 V30M

It accounts several thousand cases worldwide, with Val30Met mutation identified in most patients and with endemic foci in Portugal, Sweden and Japan. --- Val30Met ---

The most common mutation in TTR-FAP is a replacement of valine by methionine (TTR V30M). --- V30M ---



HPO Nodes


HPO:
Amyloidosis
Genes 30
LIG4 TNFRSF1A APOA1 NLRP1 SLC7A7 CST3 MEFV GSN SAA1 OSMR PSEN2 TTR B2M RET ITM2B MEFV NLRP3 NLRP3 IL31RA LYZ ITM2B CCND1 APP PRNP POLA1 CST3 APP APOE FGA NLRP3
Lattice corneal dystrophy
Genes 6
OSMR TGFBI TGFBI GSN TGFBI GSN
Motor polyneuropathy
Genes 26
AGRN SLC12A6 SCO2 TFG SLC18A3 SYT2 CTDP1 SLC25A1 REEP1 SNAP25 SPG11 CHAT PPOX GARS1 GJC2 TRPV4 BSCL2 HINT1 SLC5A7 ARL6IP1 COL13A1 ALDH18A1 ALDH18A1 VAMP1 SELENOI MYO9A
Polyneuropathy
Genes 59
GCLC NAGS SLC12A6 ERCC6 AIFM1 C12ORF65 PSAP CYP7B1 COX3 PEX11B ATP6 ARL6IP1 COQ7 OPA1 PIK3R5 SH3TC2 LDB3 PEX12 ALAD ABHD12 FAM126A EDNRB NGLY1 ND2 ABCD1 CYTB PEX7 RPIA GSN TBC1D24 GRM1 SNAP29 TTR ND5 PDK3 ND4 GSN DGUOK PMM2 ND4L DHH ND1 TTR SEPTIN9 FUCA1 DARS2 PRPS1 SETX SLC25A19 PDYN ATP7B ERCC8 DHH DMXL2 MYOT MYD88 ARL6IP1 CD59 ND6