November 15, 2019November 16, 2019
Rare Disease Film Festival Highlights Patient and Researcher Unity
News
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing ... Read more
November 8, 2019November 8, 2019
HMBS Mutations Linked to Acute Intermittent Porphyria May Vary According to Ethnicity, Study Suggests
News
Genetic variants linked to acute intermittent porphyria vary according to ethnicity, a systematic analysis among eight ethnic populations shows. ... Read more
October 25, 2019October 25, 2019
Recurrent Attacks in AHP Patients Serious and Lead to Chronic Symptoms, Study Based on Natural History Finds
News
Most acute hepatic porphyria (AHP) patients with recurrent attacks also experience significant chronic symptoms between attacks, with more than 75% ... Read more
October 17, 2019October 17, 2019
FDA Approves Scenesse to Increase Pain-Free Light Exposure for Adults with EPP
News
Adult patients with erythropoietic protoporphyria (EPP) who live in the United States can now be treated with Scenesse (afamelanotide) ... Read more
October 3, 2019October 3, 2019
Targeting ABCG2 Protein Seen to Prevent Skin Blistering, Liver Damage in Mouse Model of EPP
News
Toxic accumulation of protoporphyrin IX in the skin and liver of people with erythropoietic protoporphyria (EPP) — the most common ... Read more
September 27, 2019September 27, 2019
NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC
News
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a ... Read more
September 20, 2019September 20, 2019
TB Antibiotic Shows Promise in Mice with Erythropoietic Protoporphyria, but Researchers say More Human Studies are Needed
News
Isoniazid, an antibiotic to treat tuberculosis, produces promising results in mice with erythropoietic protoporphyria (EPP), but the standard dose ... Read more
September 13, 2019September 13, 2019
Givosiran Continues to Show Promise in Treating AHP, Trial Data Shows
News
Alnylam Pharmaceuticals announced new findings from several clinical trials that continue to demonstrate the effectiveness of givosiran, the company’s ... Read more
September 6, 2019September 6, 2019
Glycyrrhizin May Be Effective in Patients with Alcohol-linked PCT, Case Report Says
News
Glycyrrhizin may be an effective treatment option for patients who develop porphyria cutanea tarda associated with alcohol abuse, a case ... Read more
August 30, 2019
‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
News
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as ... Read more
August 30, 2019August 30, 2019
PCT Linked to Higher Risks of Gastrointestinal Disease, Cancer, and Premature Death, Study Suggests
News
People with porphyria cutanea tarda (PCT) have higher risks of developing gastrointestinal diseases and certain types of cancer, compared ... Read more
August 29, 2019August 29, 2019
At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
News
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert ... Read more

November 15, 2019November 16, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

News

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. ... Read more

November 8, 2019November 8, 2019

HMBS Mutations Linked to Acute Intermittent Porphyria May Vary According to Ethnicity, Study Suggests

News

Genetic variants linked to acute intermittent porphyria vary according to ethnicity, a systematic analysis among eight ethnic populations shows. The finding adds a new layer of knowledge that may ... Read more

October 25, 2019October 25, 2019

Recurrent Attacks in AHP Patients Serious and Lead to Chronic Symptoms, Study Based on Natural History Finds

News

Most acute hepatic porphyria (AHP) patients with recurrent attacks also experience significant chronic symptoms between attacks, with more than 75% of them needing to be hospitalized or treated with hemin, ... Read more

October 17, 2019October 17, 2019

FDA Approves Scenesse to Increase Pain-Free Light Exposure for Adults with EPP

News

Adult patients with erythropoietic protoporphyria (EPP) who live in the United States can now be treated with Scenesse (afamelanotide) to increase their tolerance to sunlight. Scenesse has been approved ... Read more

October 3, 2019October 3, 2019

Targeting ABCG2 Protein Seen to Prevent Skin Blistering, Liver Damage in Mouse Model of EPP

News

Toxic accumulation of protoporphyrin IX in the skin and liver of people with erythropoietic protoporphyria (EPP) — the most common porphyria of childhood — occurs through the action of the ... Read more

September 27, 2019September 27, 2019

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

News

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board ... Read more

September 20, 2019September 20, 2019

TB Antibiotic Shows Promise in Mice with Erythropoietic Protoporphyria, but Researchers say More Human Studies are Needed

News

Isoniazid, an antibiotic to treat tuberculosis, produces promising results in mice with erythropoietic protoporphyria (EPP), but the standard dose is not high enough to have an effect in humans, ... Read more

September 13, 2019September 13, 2019

Givosiran Continues to Show Promise in Treating AHP, Trial Data Shows

News

Alnylam Pharmaceuticals announced new findings from several clinical trials that continue to demonstrate the effectiveness of givosiran, the company’s investigational therapy for the treatment of acute hepatic porphyria (AHP). ... Read more

September 6, 2019September 6, 2019

Glycyrrhizin May Be Effective in Patients with Alcohol-linked PCT, Case Report Says

News

Glycyrrhizin may be an effective treatment option for patients who develop porphyria cutanea tarda associated with alcohol abuse, a case report says. The case report study, “A first report of ... Read more

August 30, 2019

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

News

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: ... Read more