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Report for Clinical Trial NCT02412943

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

PAPP-A2 Enzyme Replacement Therapy Using Plasma Transfusion

This study evaluates the transfusion of fresh frozen plasma containing the enzyme PAPP-A2 into the a female adult. This female adult has a mutated version of PAPP-A2 that prevents the unbinding of IGF-1 from IGF binding proteins. The investigator's hypothesize that transfusion of plasma with donor PAPP-A2 will lead to the unbinding of IGF-1 from its binding proteins and that they will be able to measure free IGF-1 in the blood of this female adult.

NCT02412943 Short Stature, Idiopathic
MeSH:Dwarfism
HPO:Severe short stature

1 Interventions

Name: Fresh Frozen Plasma

Description: Liquid portion of human blood that was centrifuged, separated, and frozen solid within 6 hours of collection
Type: Other
Group Labels: 1

PAPP-A2 Enzyme Replacement


Primary Outcomes

Description: Decrease in either total IGF-1 or IGFBP-3 of 20% or greater as a clinically meaningful decrease in levels

Measure: Decrease in IGF-1

Time: 5 minutes

Secondary Outcomes

Measure: Length of decrease in IGF-1

Time: up to 30 days

Purpose: Basic Science

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 A1033V

Genetic analysis of the participant identified a novel missense mutation in PAPPA2 (Ala1033Val). --- Ala1033Val ---



HPO Nodes


HPO: