SNPMiner Trials (Home Page)
Report for Mutation A1033V
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 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 Other: Fresh Frozen Plasma MeSH:Dwarfism
HPO:Severe short stature
Genetic analysis of the participant identified a novel missense mutation in PAPPA2 (Ala1033Val). --- Ala1033Val ---
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