SNPMiner Trials by Shray Alag


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Report for Mutation S339F

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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 Other: no intervention
MeSH: Epistaxis
HPO: Epistaxis

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 ---

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


HPO Nodes


Epistaxis
Genes 115
FGA F5 GDF2 MPL GP1BB KCNJ5 RASGRP2 GFI1B PTPN22 GP1BA F7 GP1BA ITGB3 FERMT3 F13A1 NBEAL2 CYP11B1 VWF GP1BB F13A1 ACVRL1 LYST F2 GGCX TBXAS1 GGCX DTNBP1 ITGA2B WIPF1 F10 GBA LYST SBDS ENG PRKACG VWF RUNX1 IRF2BP2 TERT SMAD4 F7 PML PRF1 GP9 SMAD4 WAS PRKAR1A HPS1 RARA GFI1B WAS TERC CTLA4 GATA1 NPM1 TBXA2R F13B WAS F10 ENG HLA-DPA1 PTPN22 HPS6 FGA FGG MYD88 HPS4 GP1BA GP9 MYH9 TET2 FYB1 FGB TBL1XR1 MCFD2 ACTN1 FIP1L1 CYP11B2 GDF2 F11 BCOR HLA-DPB1 GP6 MYH9 PLAU P2RY12 FGG FGB ITGA2B FCGR2C NBEAL2 NABP1 ITGB3 BLOC1S3 SRC SLFN14 FGG NUMA1 IFNG ACVRL1 ZBTB16 FGA VWF PRTN3 FGB F2 ETV6 STIM1 EPOR STAT3 CACNA1D STAT5B HPS5 JAK2 GATA1