SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02713880

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy - An International, Multicenter, Epidemiological Protocol

Development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy from blood

NCT02713880 Transthyretin Amyloidosis Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy Transthyretin Amyloid Cardiopathy
MeSH: Polyneuropathies Amyloid Neuropathies Amyloid Neuropathies, Familial Amyloidosis
HPO: Amyloidosis Lattice corneal dystrophy Motor polyneuropathy Polyneuropathy


Primary Outcomes

Description: New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.

Measure: Development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy from blood

Time: 24 months

Secondary Outcomes

Description: the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.

Measure: Number of correctly identified patients with Transthyretin-Related Familial Amyloidotic Polyneuropathy

Time: 36 months

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 V30M

Even though more than 100 point mutations are known to cause the disease, the most common amino acid change is 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