SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03788460

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

A Retro-prospective Pediatric Data Collection Study of the Correlation Between PT and the Level of Coagulant Factor VII

The purpose of our study: Given the large number of coagulability tests done before a number of surgeries, specially otolaryngology procedures, such as tonsillectomy and adenoidectomy, as well as a part of epistaxis workup, prothrombin time (PT) and partial thromboplastin time (PTT) were checked, and it was found that in some people there is an isolated elongated PT, a low level of factor VII was found in these people. The purpose of the current study is to find a correlation between the value of PT\INR and the level of factor VII, we tried to do so by a retro-prospective study on patients known to have a factor VII deficiency at Laniado hospital, such a correlation could make both the diagnosis and the management of people with factor VII deficiency easier and more accessible. The study levels: 1. Data collection : On the children's population who are known for their lack of Factor VII, we will check PT levels, we will concentrate the data in the table, along with personal information such as age and gender 2. Data Processing : We will try to conduct a statistical relationship between the PT values and Factor VII levels, to look for statistical significance, we will try to find a model for predicting the level of factor VII based on PT Number of participants: 60 participants Ages of participants: 0-18 years old Gender of participants: Both sexes Inclusion criteria: 1. A participant who is 0-18 years old 2. A participant who is, except for bleeding tendency, healthy in general 3. A participant who has elongated PT 4. A participant who has normal PTT Exclusion criteria: 1. Background disease 2. Use of medications 3. Use of anti coagulation drugs The duration of the study : The study is of a retrospective type, we already have a number of subjects, we need more as to reach statistical significance, so the expectation is two to three months

NCT03788460 Epistaxis ENT Disorder
MeSH: Epistaxis
HPO: Epistaxis

1 Interventions

Name: no intervention

Description: no intervention

Type: Other

childrens population with lack of Factor VI


Primary Outcomes

Description: correlation between PT / INR value and percent of factor VII through a retro-prospective study of patients who are known to have factor VII deficiency. This correlation is expected to facilitate diagnostic and monitoring procedures for patients with factor VII deficiency. The clinical value of this study is to facilitate diagnosis and treatment in patients with Factor VII defiency.

Measure: Correlation between PT, INR and the level of coagulant factor VII

Time: Study completion within 2 years

Time Perspective: Other

Cohort


There is one SNP

SNPs


1 S339F

Seligsohn and his colleagues described one of the mutations in Factor VII, 5-Ser339Phe, which was found in three Tunisian families and caused a tendency to bleed through a mechanism of reduced factor X activation. --- Ser339Phe ---



HPO Nodes


HPO:
Epistaxis
Genes 80
MPL IFNG STIM1 TBXAS1 JAK2 NPM1 GP6 TET2 MYD88 GFI1B CACNA1D EPOR FCGR2C MYH9 ZBTB16 PRTN3 RARA VWF WAS WIPF1 P2RY12 HLA-DPA1 MCFD2 HLA-DPB1 SBDS PRF1 CYP11B1 CYP11B2 KCNJ5 NBEAL2 HPS4 HPS1 HPS6 SRC NUMA1 GATA1 PRKACG FGA FGB GBA PRKAR1A ETV6 FIP1L1 BLOC1S3 PTPN22 PLAU CTLA4 ACTN1 FGG ITGA2B NABP1 RUNX1 ACVRL1 DTNBP1 SLFN14 GDF2 HPS5 F2 TERC FYB1 ENG TBL1XR1 TERT F5 LYST ITGB3 F7 F10 F11 F13A1 F13B GGCX SMAD4 STAT5B FERMT3 RASGRP2 GP1BA PML GP1BB GP9