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THE FDA APPROVED SCENESSE! Clinuvel Pharmaceuticals Ltd has announced that Scenesse/Afamelanotide 16mg has been approved in the USA by the Food and Drug Administration for the treatment of Erythropoietic Protoporphyria. The APF is proud of our EPP community who fought for years for this approval. There are 7000 known rare diseases, 5% of them have an FDA-approved treatment. FINALLY, EPP is one of them! Congratulations on this monumental win.
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Porphyria Post

October 3, 2019

Porphyria Post

Rare Disease Week on Capitol Hill Travel Stipend Application


We need your help! The APF has created an extensive list of physicians around the world who are treating with people with Porphyria. This list helps when people from around the world contact the APF needing assistance finding a knowledgeable physician. YOU can help patients everywhere by sharing with us the name and location of your physician. Comment on this post, PM Edrin Williams, APF Director of Patient Services or call the APF office at 301.347.7166 to give us their information. Thank you!

Medical Moment: Molecular Diagnosis (DNA)

Medical Moment: Molecular Diagnosis (DNA) An international collaboration of porphyria experts is building an evidence-based database of verified pathogenic and benign variants in order to facilitate accurate diagnosis for the porphyria community, beginning with the three most common acute porphyrias (AIP, HCP, VP). A SPECIAL ARTICLE was recently published in Genetics in Medicine, a publication of the American College of Medical genetics and Genomics. This collaboration is among the European Porphyria Network (EPNET) of experts and the NIH-supported Porphyrias Consortium. ABSTRACT: With the advent of precision and genomic medicine, a critical issueis whether a disease gene variant is pathogenic or benign. Such is the case for the three autosomal dominant acute hepatic porphyrias (AHPs), including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, each resulting from the halfnormal enzymatic activities of hydroxymethylbilane synthase, coproporphyrinogen o…


The APF asked our Facebook friends for their top questions they would ask a porphyria expert.
 The following questions were submitted to Dr. Wang for his responses ... Q. Does EPP give us bad teeth? Also, do people with EPP get stomach pains or is that with the other porphyias? A. The porphyrin that accumulates in EPP patients is protoporphyrin IX, which does not cause discoloration to teeth or abdominal pain.
 The type of porphyria that leads to discolored teeth is Congenital Erythropoietic Protoporphyria. The porphyrias that lead to episodic abdominal pain attacks are the acute hepatic porphyrias. Q. I have EPP and I have a severe reaction on my hands and lips. Do I seek urgent care? Also, what can you even do when you burn your lips? A. The acute reactions to sunlight in EPP can be very severe and, unfortunately, there are not many effective options to treat the symptoms. Nonsteroidal anti-inflammatory drugs (NSAIDS such as ibup…


RESEARCH. IF NOT YOU, THEN WHO? If you have ever asked a question about your type of porphyria only to have a physician respond with “I don’t know,” you are a candidate to participate in research. The American Porphyria Foundation is actively recruiting research volunteers for all types of porphyria. We are calling on our patient members to boost the number of volunteers that participate in these studies. The government grants that fund rare disease research, through the National Institutes of Health, support a limited number of disease groups like porphyria. A critical area for assessment to fund a rare disease group is the number of participants. If there is not proof of steady growth in the number of research volunteers, we risk losing critical funding that supports our Porphyria Centers across the US. To secure ongoing funding, we urge you to participate. It is easier than you may think! We understand that it is an important and personal decision, but if not you ...then who???   I…

Porphyria Post

DR BRUCE WANG SELECTED AS WINNER OF “BEST PRESENTATION” AT ICPP Dr. Bruce Wang, Porphyria Expert at UCSF and American Porphyria Foundation Protect the Future physician, has won Best Presentation at ICPP for his excellent work titled “Single Cell Transcriptomic Analysis of Hepatocytes in a Mouse Model of Porphyria Cutanea Tarda” in collaboration with B. Patkar, D. Burhan, and J. Phillips.  118 abstracts from 27 countries were submitted for presentations and posters.  Congratulations Dr. Wang!
INTERNATIONAL CONGRESS OF PORPHYRINS AND PORPHYRIAS (ICPP) With over 500 attendees from 59 countries, the ICPP meeting held in Milan, Italy, September 8-11, was a global success. The congress began with a Patient Day, where patient advocacy groups collaborated on our work and participated in lectures. The scientific program was three days of presentations from scientists, researchers and clinicians. The APF will share detailed information and key learnings from the Congress over the next several we…