Acute Intermittent Porphyria

Watchlist

(log in to enable)

Retrieved

2022-04-26

Source

Gard

Trials

—

Genes

HMBS, ALAS1, PPOX, PRSS1, AIP, CXCR5, SPINK1, CELA1, ALAD, HLA-DRB1, UROD, TNF, AMY2A, KRAS, LTBR, FOXP3, TLR4, LTA, IL33, CFTR, IFNA1, CALCA, IFNA13, PTX3, DEGS1, TFPI2, SCT, TP53, SKI, PPIG

HMBS, ALAS1, PPOX, PRSS1, AIP, CXCR5, SPINK1, CELA1, ALAD, HLA-DRB1, UROD, TNF, AMY2A, KRAS, LTBR, FOXP3, TLR4, LTA, IL33, CFTR, IFNA1, CALCA, IFNA13, PTX3, DEGS1, TFPI2, SCT, TP53, SKI, PPIG, THY1, TGM2, TGFB1, SST, SLC15A2, TLR2, ABCF1, KNTC1, PDPN, LOC102724971, LOC102723407, CCR2, MIR181D, MIR193B, MIR34A, MIR150, LOC390714, LINC01193, FCRL3, IL21, KRT20, TLR9, IL22, CD274, IGHV3-69-1, IGHV3OR16-7, SMUG1, LILRB1, MMRN1, NTRK1, PPBP, CRP, GC, FECH, ENO1, DPAGT1, DOCK3, CYP3A5, CYP2D6, CTLA4, CPOX, HLA-A, MS4A1, CAT, CALCB, CA2, B2M, ARSA, APOA2, ALAS2, H2AX, HLA-E, MED1, MGST3, POMC, PLAT, PKD1, PEBP1, NGF, MVD, ATP8, MST1, SMAD4, HSPE1, CYP4F3, LAIR1, KCNA3, IDO1, IL13, IL10, CXCL8, IFN1@, LOC105379528

Drugs

Adeno-associated viral vector containing porphobilinogen deaminase gene, Givosiran ( GIVLAARI ), Hemin ( PANHEMATIN )

Adeno-associated viral vector containing porphobilinogen deaminase gene, Givosiran ( GIVLAARI ), Hemin ( PANHEMATIN ), Recombinant human porphobilinogen deaminase

Interested in hearing about new therapies?

Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea. Treatment is dependent on the symptoms.