Porphyria News and Research

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Hydroxychloroquine shown to slow recovery for COVID-19 patients

As researchers try to piece together a therapeutic strategy against the ongoing COVID-19 pandemic, a recent retrospective study from Cleveland Clinic Abu Dhabi, assessed the Hydroxychloroquine's efficacy in increasing SARS-CoV-2 viral clearance, finding that it appeared to significantly slow viral clearance in mild to moderately ill COVID-19 patients.

5 May 2020

Researchers describe the impact of chronic hepatitis D on parts of the immune system

Approximately one out of every ten people with hepatitis B are coinfected with hepatitis D, which is among the most serious liver conditions.

15 May 2019

New research opens the way for tailored cancer drugs

New research on how cancer mutations influence a certain type of receptor on the cell membrane opens the way for the development of tailored drugs for certain cancers, such as rectal cancer and lung cancer.

11 Feb 2019

Study finds low relapse risk in young patients with Hodgkin lymphoma

The treatment of Hodgkin lymphoma is now so effective that young patients who do not have a relapse within two years of therapy have a life expectancy similar to that of their healthy peers.

8 Feb 2019

New acute porphyria treatment shows promising results in clinical study

Acute porphyria is a group of uncommon diseases that can cause severe, potentially life-threatening attacks of abdominal pain, nausea, vomiting and paralysis. Liver transplantation is currently the only effective treatment available for the most seriously afflicted patients.

7 Feb 2019

New pre-clinical research shows utility of mRNA platform to treat rare metabolic disorders

An mRNA platform that can express therapeutic levels of protein in liver tissue could be used to treat patients with rare metabolic disorders.

9 Oct 2018

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

Wrecked and retching: Obscure vomiting illness linked to long-term pot use

For 17 years, Chalfonte LeNee Queen suffered periodic episodes of violent retching and abdominal pain that would knock her off her feet for days, sometimes leaving her writhing on the floor in pain.

2 Jan 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

Latest and final review of health problems related to Agent Orange exposure during Vietnam War

The latest and final in a series of congressionally mandated biennial reviews of the evidence of health problems that may be linked to exposure to Agent Orange and other herbicides used during the Vietnam War changed the categorization of health outcomes for bladder cancer, hypothyroidism, and spina bifida and clarified the breadth of the previous finding for Parkinson's disease.

11 Mar 2016

Afamelanotide treatment improves quality of life in people with erythropoietic protoporphyria

A novel synthetic hormone that makes certain skin cells produce more melanin significantly increases pain-free sun exposure in people with erythropoietic protoporphyria, a rare, genetic disorder resulting in excruciating pain within minutes of sun exposure.

3 Jul 2015

New Internet tool may help analyze genes based on their evolutionary profile

Two major revolutions, one genomic and one in informatics, are completely changing the face of biomedical research. Every day all over the world, millions of genetic sequences -- from disease-related genes to complete genomes of plants, animals, bacteria and viruses -- are resolved, identified and dissected.

26 Jun 2015

New gene therapy for Acute Intermittent Porphyria

Angeles suffers from a severe and rare genetic disease called Acute Intermittent Porphyria (AIP). This means, one of her genes restrains her liver to produce a specific protein needed for the metabolism of the blood. During an AIP attack Angeles usually feels intense abdominal pain, and her mental status changes. Women live at an increased risk to trigger the symptoms, because porphyria is related to the menstrual cycle.

2 Jul 2014

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 initiates Phase II study with ALN-TTRsc for treatment of ATTR

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has initiated a pilot Phase II study with ALN-TTRsc, a subcutaneously delivered RNAi therapeutic targeting the transthyretin gene in development for the treatment of TTR-mediated amyloidosis.

17 Dec 2013

New test to help physicians identify patients with most lethal forms of triple-negative breast cancer

A new test has the potential to help physicians identify patients with the most lethal forms of triple-negative breast cancer, a disease which requires aggressive and innovative treatment.

12 Dec 2013

Alnylam presents new pre-clinical data with ALN-AT3 for treatment of hemophilia and RBD

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has presented new pre-clinical data with ALN-AT3, a subcutaneously administered RNAi therapeutic targeting antithrombin (AT) for the treatment of hemophilia and rare bleeding disorders (RBD), at the 55th Annual Meeting of the American Society of Hematology (ASH) held December 7 - 10, 2013 in New Orleans.

10 Dec 2013

Tackling orphan diseases: an interview with Damian Marron, CEO, TxCell

The exact definition of orphan diseases varies depending on where you are in the world. In the EU it's defined as a prevalence of less than 1 in 2,000, which equates to about 250,000 patients across the EU.

4 Dec 2013

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