SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02412943

Developed by Shray Alag, 2019.
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

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

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:
Severe short stature
Genes 84
COL2A1 GH1 GHR XYLT1 ORC1 RMRP ORC4 SDHAF1 PCYT1A TCTN3 NDUFB11 FLNB AMER1 PIEZO2 ERCC4 FBN1 ERCC6 PNPLA6 ANTXR2 FAM111A COMP MBTPS2 GLB1 ADAMTS2 CANT1 ORC6 SLC26A2 PIK3R1 POLE WNT5A INPP5K INPPL1 HHAT DHCR24 GORAB DLL3 PTDSS1 DVL1 DVL3 SMARCA2 COX7B CKAP2L PEX7 PYCR1 ALDH18A1 DDRGK1 B3GALT6 SHOX CRIPT TRPV4 SALL4 MESP2 FGFR1 DLX5 FGFR3 ATP8B1 CDT1 LTBP3 CDC6 IDS NSMCE2 KAT6B CTSA MAP3K7 FZD2 TRIP11 HCCS GMNN HSPA9 PTH1R SDHA LARP7 SDHB SIL1 KIF11 SDHD SMAD4 STAT5B RNU4ATAC COL1A1 CDC45 COL1A2 NIN TBX6