SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02713880

Developed by Shray Alag, 2019.
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: Amyloidosis Polyneuropathies Amyloid Neuropathies, Familial Amyloid Neuropathies
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 22
SLC7A7 PSEN2 FGA ITM2B LYZ TTR NLRP1 POLA1 APOA1 SAA1 MEFV PRNP NLRP3 IL31RA GSN B2M RET APOE OSMR TNFRSF1A APP CST3
Lattice corneal dystrophy
Genes 3
TGFBI GSN OSMR
Motor polyneuropathy
Genes 25
SLC5A7 SLC12A6 ALDH18A1 SCO2 TRPV4 GJC2 CHAT SPG11 BSCL2 HINT1 SELENOI SYT2 SNAP25 COL13A1 REEP1 ARL6IP1 TFG MYO9A AGRN SLC18A3 SLC25A1 GARS PPOX VAMP1 CTDP1
Polyneuropathy
Genes 52
SLC12A6 MYD88 ERCC8 SH3TC2 DMXL2 LDB3 RPIA SETX ERCC6 MYOT ATP7B ATP6 PSAP DHH COX3 ARL6IP1 CYTB GCLC AIFM1 PDK3 SEPTIN9 DGUOK PDYN C12ORF65 ND1 ND2 ND4 ND4L ND5 FAM126A ND6 CD59 PEX12 CYP7B1 ALAD FUCA1 ABCD1 NGLY1 PEX11B GRM1 SLC25A19 ABHD12 TTR PIK3R5 NAGS COQ7 EDNRB GSN TBC1D24 PMM2 SNAP29 PRPS1