Presentations will include additional results from the ENVISION Phase 3 study and Phase 1/2 open-label extension study of givosiran, an investigational RNAi therapeutic for the treatment of acute hepatic
porphyria (AHP).
Acute hepatic
porphyria refers to a family of rare, genetic diseases characterized by potentially life-threatening attacks and for some patients chronic debilitating symptoms that negatively impact daily functioning and quality of life.
"Given the high unmet need in this disease setting, we are very pleased for the patients and families living with acute hepatic
porphyria for whom these results signal hope for a potential new therapeutic option,"said AkshayVaishnaw, M.D., Ph.D., president of R&D at Alnylam.
It is highly photosensitizing and has been linked to
porphyria cutanea tarda, accelerated photoaging, development of AKs, and aggressive cutaneous squamous cell carcinoma (Am J Transplant.
Porphyria is a group of disorders in which the body is unable to cleanse organic compounds known as porphyrins, which then interfere with the normal operations of the nervous system and skin.
Keywords: Photosensitivity, congenital erythropoietic
porphyria,
porphyria, autosomal recessive.
Because of ALAD inhibition, lead poisoning bears biochemical and clinical resemblance to ALAD
porphyria, a rare form of
porphyria, as well as tyrosinemia type I, another secondary cause of
porphyria (Table 2) (10).
Erythropoietic protoporphyria (EPP) is the most common kind of
porphyria. It appears in childhood and causes the skin to be very sensitive to light.
A diagnosis of sporadic
porphyria cutanea tarda (PCT) was established.
Acute intermittent
porphyria (AIP) is a rare metabolic disorder that is the most common of the acute porphyries.
There are several types of
porphyria, each associated with a different step in the chain of enzymes associated with synthesis of a heme molecule in the mitochondria.
We report a case of a 48-year-old male patient with LP presenting as recurring abdominal pain and anemia that was initially misdiagnosed as nonspecific abdominal pain (NSAP) and acute
porphyria.
Sporadic
porphyria cutanea tarda (PCT) is such a disease, occurring in less than 5% of dialysis patients [2].
THE MADNESS OF KING GEORGE (Film4, Monday, 6.45pm) ALAN BENNETT adapted his own acclaimed play for the big screen, drawing on the true story of George III, who suffered dementia during his reign, believed now to have been caused by
porphyria, a blood disorder.
