Porphyrias News and Research

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TANGO2 plays a role in heme homeostasis, research reveals

Heme, the iron-holding molecule that gives blood its red color, is essential for life. Yet, ironically, it can be quite toxic if not properly handled. In fact, numerous diseases – from various cancers to cardiovascular diseases – are associated with defects in heme homeostasis.

21 Oct 2022

Alnylam announces positive results from Phase 3 Study of givosiran for treating acute hepatic porphyria

Alnylam Pharmaceuticals, Inc., the leading RNAi therapeutics company, announced today positive topline results from the interim analysis of the ENVISION Phase 3 Study of givosiran, an investigational RNAi therapeutic targeting aminolevulinic acid synthase 1 for the treatment of acute hepatic porphyria.

27 Sep 2018

Newly-discovered mutation highlights complex genetic network that underpins blood disorder

Porphyrias, a group of eight known blood disorders, affect the body's molecular machinery for making heme, which is a component of the oxygen-transporting protein, hemoglobin. When heme binds with iron, it gives blood its hallmark red color.

7 Sep 2017

Rare genetic variations linked to severe porphyria

An international research team has linked rare variations in a cell membrane protein to the wide variation in symptom severity that is a hallmark of porphyria, a rare disorder that often affects the skin, liver and nervous system.

10 Aug 2016

Photodynamic therapy effective in treating porphyrias but can be severely painful, cause inflammation

Severe paleness and photosensitivity are two symptoms of a rare group of hereditary diseases that affect haem, a substance in the blood. While these metabolic disorders - known as the porphyrias - are extremely rare, a similar effect is often deliberately triggered by dermatologists in localised areas during the treatment of pre-cancerous skin lesions and skin cancers.

24 Jun 2016

Alnylam announces new pre-clinical results with DC for ALN-CC5 to treat complement-mediated diseases

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today new pre-clinical results with its Development Candidate (DC) for ALN-CC5, a subcutaneously administered investigational RNAi therapeutic targeting complement component C5 in development for the treatment of complement-mediated diseases.

10 Jun 2014

Alnylam advances Development Candidate for ALN-AS1 for treatment of hepatic porphyrias

Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), a leading RNAi therapeutics company, announced today that it is advancing its Development Candidate for ALN-AS1, an RNAi therapeutic targeting aminolevulinate synthase-1 (ALAS-1) for the treatment of hepatic porphyrias including acute intermittent porphyria (AIP).

9 Oct 2013

Alnylam reports pre-clinical data from ALN-AS1 program for treatment of AIP

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has presented key pre-clinical proof-of-concept data from its RNAi therapeutic program targeting aminolevulinate synthase-1 (ALAS-1) for the treatment of porphyria including acute intermittent porphyria.

18 May 2013

Medunik Canada signs exclusive distribution agreement with Orphan Europe

Medunik Canada, is an orphan drug company dedicated to helping Canadians with rare diseases access therapies currently unavailable in Canada. Medunik Canada is proud to announce that it has signed an exclusive distribution agreement with Orphan Europe Recordati Group.

5 Jul 2012

SCENESSE reduces, prevents phototoxic reactions experienced by EPP patients in Phase III trial

A new Australian drug has been shown to assist in protecting patients with a rare genetic disorder that makes their skin toxic to light and UV, and previously forced them to live in the shadows.

13 Jul 2010

Research to explore diagnosis and treatment of rare diseases

The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia.

7 Oct 2009

Researchers reveal basis for hereditary coproporphyria

A research team led by scientists at The University of Texas Medical School at Houston has determined the structure of an enzyme that when defective causes an inherited disease that afflicts sufferers with severe abdominal pain, psychiatric symptoms, skin fragility, and light sensitivity.

9 Oct 2005

Molecular missing link between fasting and acute attacks of porphyria

A team of researchers has discovered a molecular missing link that helps explain why fasting brings on acute attacks of the genetic disease hepatic porphyria, according to a new report in the 26 August issue of the journal Cell.

29 Aug 2005