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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

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 98
DLX5 SDHAF1 ERCC6 SALL4 GORAB TRPV4 RMRP CANT1 FLNB GH1 ATP8B1 DVL3 COL1A2 PIEZO2 MBTPS2 GHR SGMS2 FGFR3 ANTXR2 XYLT1 SLC26A2 STAT5B CDT1 WNT5A RTTN ERCC4 PTH1R FZD2 TCTN3 MAP3K7 COL2A1 FAM111A FGFR3 RNU4ATAC IDS INPPL1 ADAMTS2 ORC1 TRPV4 MESP2 FGFR1 GHR GORAB ORC4 AMER1 SDHA GH1 PYCR1 INPP5K TRPV4 NSMCE2 COX7B FBN1 COL1A1 ERCC6 GMNN LTBP3 DDRGK1 PEX7 PCYT1A DHCR24 ALDH18A1 SMARCA2 PNPLA6 GMNN ORC6 PIK3R1 TBX6 CTSA KIF11 DVL1 HSPA9 SDHD DLL3 SDHB SIL1 COMP CANT1 TRIP11 CKAP2L GLB1 HCCS HHAT CDC6 B3GALT6 CRIPT NDUFB11 NIN POLE CDC45 TBX6 MBTPS2 KAT6B SHOX PTDSS1 LARP7 SMAD4 FBN1