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Showing posts from May, 2016

SCENESSE® treatment in Europe

SCENESSE® treatment in Europe German Porphyria Expert Centres to start distribution of SCENESSE® (afamelanotide 16mg) Clinuvel Pharmaceuticals Limited (ASX: CUV; XETRA-DAX: UR9; ADR: CLVLY) today announced an update on the company's post-authorisation distribution of SCENESSE® (afamelanotide 16mg) across Europe for adult patients with the rare disorder erythropoietic protoporphyria (EPP).1 SCENESSE® in EPP SCENESSE® is the first approved treatment for EPP, a genetic disorder characterised by acute phototoxic reactions (anaphylactoid reactions and burns) and forced withdrawal from exposure to all forms of visible light. Clinuvel conducted clinical trials of SCENESSE® in EPP from 2006 to 2013.
You may view the full Clinuvel announcement, along with others, at this address:

The APF would like to take this opportunity to remind you how important it is to continue our fight for this revolutionary drug to be approved in th…

NORD and EPP: Micheline M. Mathews-Roth, MD, Associate Professor of Medicine, Harvard Medical School

Erythropoietic Protoporphyria NORD gratefully acknowledges Micheline M. Mathews-Roth, MD, Associate Professor of Medicine, Harvard Medical School, for assistance in the preparation of this report. Synonyms of Erythropoietic ProtoporphyriaEPPErythrohepatic ProtoporphyriaProtoporphyria General Discussion Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivity). After exposure to light, the skin may become itchy and red. Affected individuals may also experience a burning sensation on their skin. The hands, arms, and face are the most commonly affected areas. Some people with erythropoietic protoporphy…

Porphyria Facts from the NIH: Read and Share Dr.Porphyria Expert Herbert L. Bonkovsky, M.D., Carolinas Health Care System

Porphyria Facts from the NIH: Read and Share
Dr.Porphyria Expert Herbert L. Bonkovsky, M.D., Carolinas Health Care System On this page:
What are porphyrias?
What is heme and what does it do?
What are the types of porphyria?
How common is porphyria?
What causes porphyria?
What are the symptoms of porphyria?
How is porphyria diagnosed?
How is porphyria treated?
Eating, Diet, and Nutrition
Points to Remember
Clinical Trials
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…

Quotes of Porphyria Read & Share

Please read and share American Porphyria Foundation
Published by Rob Saupe' · 20 hrs ·  The old adage, No Pain, No Gain, may work well in certain instances, but for porphyria, No Pain, No Gain is a terrible maxim. Most patients agree that porphyrias do not fit within the mainstream of painful conditions, like broken bones, labor pains, muscle spasms, etc. Porphyria pain is so severe that it is difficult to explain, but the people below have used their own extraordinary descriptions. After you read their quotes, you will understand why porphyria has gained a reputation as one of the most painful diseases.

Victor Mejias (EPP) It itches and burns so bad it makes me climb the walls. Emily Melone (AIP) It is like “charlie horses” in my intestines. Mike Boone (AIP) I want to unzip my skin and step out. My ribs feel like they are being fileted. Karen Eubanks (AIP) I am being kicked with a steel toed boot. Kim Stala (EPP) My hands feet and face are in boiling water for days while a knife i…

2016 Honoree Rare Impact Awards- Desiree Lyon Howe

During a wonderful ceremony last night in Washington D.C., Desiree Lyon Howe, the Executive Director of the APF, was awarded the 2016 Rare Impact Award by the National Organization for Rare Disorders (NORD), which represents 23 million Americans with rare diseases. Desiree is grateful to receive this award and had a great time celebrating with her family, friends, and colleagues.Desiree credits the success of the APF to the members and the Scientific Advisory Board.
"Remember....Research is the key to your cure!"


Variegate porphyria (VP) is an autosomal dominant disorder that is a member of a family of disorders referred to as the porphyrias. Each disease in this family results from deficiencies in a specific enzyme involved in thebiosynthesis of heme (also called the porphyrin pathway). The term porphyria is derived from the Greek termporphura which means "purple pigment" in reference to the coloration of body fluids in patients suffering from a porphyria. The porphyrias are classified on the basis of the tissue that is the predominant site of accumulation of metabolic intermediates. These classifications are "hepatic" or "erythroid". Each disease is also further characterized as being acute or cutaneous dependent upon the major clinical features of the disease. VP results from defects in protoporphyrinogen oxidase. VP is classified as an acute hepatic porphyria. VP is also known by the names porphyria variegata, protocoproporphyria and South African genetic por…

APF 600 PAges sent to FDA Commissioner! Fight EPP

Last week the APF sent this stack of over 600 PAGES (2 and 1/2 inches tall) of EPP pictures and stories to the FDA Commissioner!  We have not slowed our efforts one bit and we will to continue to fight!  Keep sending us your personal stories, letters, photos, etc...  We need to keep putting pressure on the FDA!  Summer is HERE.  It is unacceptable that we do not have approval of Afamelanotide/Scenesse and we will not stop until we have achieved our goal.  Join the APF in fighting for this revolutionary treatment to be approved in the US!

"Remember....Research is the key to your cure!"

Part 2 of Care giving (Important)

Part 2 of Care giving:  

The Caregiver also needs to stay well and balanced, physically, emotionally, mentally and spiritually.  This may require that they need a break.  Who would be able to come in and help?  Can I trust just anyone?  Asking for help or letting others help can take some of the pressure off you and allow you to take care of yourself.  Family and friends often want to help but may not know how or what you need.  Here are some tips for working with family and friends that have helped me and other porphyria patients:

Look for the areas that may need help, buy making a list.Hold a regular family meeting to to keep everyone up to date. Very important to include the patient and let them express their wishes and concerns.Ask family and friends when they are able to help and what jobs they think they can do.  Be clear about what you need help with.When you do hear back from them, note it on your list and make sure they haven taken care of what was needed.Also show your appreci…

Learn about ALAD Porphyria

ALAD aminolevulinate dehydratase
 Normal Function The ALAD gene provides instructions for making an enzyme known as delta-aminolevulinate dehydratase. This enzyme is involved in the production of a molecule called heme. Heme is vital for all of the body's organs, although it is found mostly in the blood, bone marrow, and liver. Heme is an essential component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). The production of heme is a multi-step process that requires eight different enzymes. Delta-aminolevulinate dehydratase is responsible for the second step in this process, which combines two molecules of delta-aminolevulinic acid (the product of the first step) to form a compound called porphobilinogen. In subsequent steps, four molecules of porphobilinogen are combined and then modified to produce heme. Related Information What is DNA?What is a gene?How do genes direct the production of proteins?More ab…