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Showing posts from August, 2017

APF is #Houston Strong!

The American Porphyria Foundation office located in Houston, TX remains closed due to the extreme flooding from Hurricane Harvey. All office staff are safe. Please continue to contact us with any needs as we will be checking voicemail and email on a regular basis. We will inform you when the office has re-opened. For those with questions that need to be answered with urgency please contact Desiree Lyon, Executive Director at 713.857.0995. Thank you. WOODWAY DRIVE - Directly across the street from where the APF office is located.

NIH Part 1 101 on Porphyrias (Updated Info)

Part 1
Porphyria What are porphyrias? Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cells—red blood cells, white blood cells, and platelets.
The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.

Biotech AHP News

Alnylam heads for phase 3 with acute porphyria program by Phil Taylor |  Jun 26, 2017 10:25am
Alnylam porphyria drug reduces annualized relapse rate by 73% in phase 1 study. ShareFacebookTwitterLinkedInEmailPrint RNA interference (RNAi) specialist Alnylam has hit the accelerator on its candidate drug for ultrarare porphyria diseases, prepping for phase 3 trials later this year after unveiling initial results in 12 patients. Alnylam's givosiran achieved a dramatic reduction in annual attack rates in the phase 1 trial reported at the International Congress on Porphyrins and Porphyrias in Bordeaux, France, and could become the first drug to be approved for preventing attacks, according to the biotech. It's a needed boon for Alnylam, which was hit hard last year after it was forced to drop its hereditary ATTR amyloidosis drug revusiran. More patient deaths were seen on that drug versus placebo in the late-stage ENDEAVOUR trial, forcing a switch to new lead drug patisiran. Porphyria…

A Little Bit Of History of Porphyria

Medical Moment~ History of Porphyria

A Little Bit of History

1841 - The term ‘porphyrin comes from the Greek word, porphyus, meaning reddish-purple. It was first thought that the reddish color of blood was from iron. One early scientist performed an experiment to prove that this was not the case. He washed dried blood with concentrated sulfuric acid to free the iron. He then treated it with alcohol and the resulting iron free residue took on a reddish purple color though it contained no iron compound

1844 - Gerardus Johannes Mulder determined the chemical composition of this purplish, iron free substance, which he named "hematin," He also illustrated that hematin took up oxygen.

1867 - J.L.W. Thudichum described the beautiful spectrum and fluorescence of these red porphyrins after he published his first book on the analysis of urine.
1871 - Felix Hoppe-Seyler crystallized hematin and described its spectrum. He then demonstrated that the crystalline form differed from one animal s…

EPP Have you ever wondered why you have been sunburnt on a cloudy day?

 EPP Have you ever wondered why you have been sunburnt on a cloudy day? The total dose of UV radiation reaching the earth’s surface and hence, the potential damage to human skin and tissues, varies, depending on many factors. The sun’s elevation in the sky depends on the time of the day and year. The shorter the distance that photons (making up the total of UV radiation) need to travel though the earth's atmosphere, the greater the intensity of UV radiation. The altitude of a location also effects UV radiation levels as the higher a location is above sea level, the shorter the distance UV radiation travels. The thinning of the ozone layer located above Antarctica has had a considerable impact on the ability of the atmosphere to absorb UVB, a significant contributor to the increased incidence of skin cancer and other damage to human tissues which has been observed in populations bordering the ozone hole. Clouds act on UV primarily by scattering radiation which can both reduce and en…

EPP is CLINUVEL's lead clinical indication for SCENESSE®(afamelanotide 16mg)

EPP is CLINUVEL's lead clinical indication for SCENESSE®(afamelanotide 16mg) Clinical and regulatory progress: In December 2014, the European Commission approved SCENESSE® to prevent phototoxicity in adult patients diagnosed with EPP, following a recommendation from the European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP). You can read the announcement here. CLINUVEL is currently working to make SCENESSE® available across Europe. If you have EPP and would like to receive updates on our program, please contact us. ·US Phase III EPP trial completed ·Orphan designated indication About Erythropoietic Protoporphyria (EPP) EPP symptoms on the lips EPP is a rare life-long genetic disease found mainly in fair-skinned people. It is characterised by severe phototoxicity (intolerance of light) of the skin resulting in intolerable pain, swelling and scarring, usually of exposed areas such as the face, hands and feet. Reactions can vary from mild to extreme with hospit…

New Positive Clinical Results for Givosiran (ALN-AS1) in Acute Intermittent Porphyria Patients with Recurrent Attacks

26 Jun, 2017New Positive Clinical Results for Givosiran (ALN-AS1) in Acute Intermittent Porphyria Patients with Recurrent Attacks We reported interim results from our ongoing Phase 1 study with givosiran at the 2017 International Congress on Porphyrins and Porphyrias (ICPP), held June 25 – 28, 2017 in Bordeaux, France. Data presented were from the first three unblinded cohorts from Part C, in patients with acute intermittent porphyria (AIP) that experience recurrent attacks and initial data from the open-label extension (OLE) study. Read our press release
View the complete Phase 1 interim and OLE data presentation
View the results from the EXPLORE natural history study
View the poster on healthcare utilization and costs
View the poster on disease burden in patients with AIP and recurrent attacks

Patients treated with givosiran (N=9) experienced a mean 63 percent reduction in the annualized number of all porphyria attacks relative to the run-in period attack rate, with consistent effects obs…

Holly Hamilton joins the APF CEP Facebook group

Welcome Holly Hamilton as our new Moderator the the Closed Facebook CEP group.  Holly and her husband Justin are wonderful parents and folks.  Justin & Holly are the proud parents of 2 adorable children.

They also support the American Porphyria Foundation and spreading awareness.

To learn more about Justin & Holly and how they manage Justins CEP together catch the interview at this link:

To learn more about CEP:

To join the CEP FB Group:

Thank you for supporting the APF!


IMPORTANT!!! A new research study is starting for PCT. The Harvoni Treatment for Porphyria Cutanea Tarda study is Beginning to recruit patients now. Please contact the APF office on 1-866-APF-3635 to find out how to participate.                                  Remember~ "Research is your key to a cure"