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Showing posts from June, 2015

Press Release for Acute Type Porphyria and Research: From Alnylam Phase 1 Clinical Trial Drug

Press Release for Acute Type Porphyria and Research:  From                              Alnylam Phase 1 Clinical Trial Drug Alnylam Initiates Phase 1 Clinical Trial for ALN-AS1, an Investigational RNAi Therapeutic Targeting Aminolevulinic Acid Synthase 1 (ALAS1) for the Treatment of Acute Hepatic Porphyrias, Including Acute Intermittent Porphyria (AIP) 05.26.2015- Company Expects to Present Initial Clinical Results in Early 2016 -CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Alnylam Pharmaceuticals, Inc. (Nasdaq:ALNY), a leading RNAi therapeutics company, announced today that it has initiated a Phase 1 clinical trial with ALN-AS1, a subcutaneously administered investigational RNAi therapeutic targeting aminolevulinic acid synthase 1 (ALAS1) for the treatment of acute hepatic porphyrias, including acute intermittent porphyria (AIP). The Phase 1 trial of ALN-AS1 will be conducted initially in AIP patients who are asymptomatic "high excreters" (ASHE). These ASHE subjects have a defined m…

What is Variegate Porphyria?

What is VP?


Variegate Porphyria (VP)

This form of hepatic Porphyria is most common in South Africans of Dutch ancestry. It is relatively uncommon elsewhere. It is an autosomal dominant disorder and may produce acute attacks (as in AIP) as well as chronic skin photosensitivity. The deficient enzyme is protoporphyrinogen oxidase. In acute attacks, urine PBG is increased as in AIP. Diagnosis of latent carriers is made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in feces, or by DNA mutation analysis (see AIP). The most sensitive screening test for VP is probably a plasma porphyrin assay. In patients with skin manifestations, it is important to distinguish VP or HCP from PCT, because treatment by phlebotomy or low-dose chloroquine is ineffective in VP and HCP. Acute attacks are managed and may be prevented as in AIP.
To learn more please visit porphyriafoundation.org or call 1-866-APF-3635 for a comprehensive Dr. Kit or Patient kit sent out to you.
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Tony Mc Laughlins fight with VP from the UK

Hi my name is Tony McLaughlin I'm 52 and from Yorkshire in the UK but now live in Galway Ireland. 
I was diagnosed in 1993 with VP, after my sister found out she had VP, my sister went to see a cardiologist on an unrelated matter and the cardiologist recognized the skin symptoms which given it's rarity was a lucky break and they tested the rest of the family.
 I have 2 grown daughters one was also diagnosed through genetic testing as having VP but she's 24 with no symptoms, although she has to be careful with unsafe drugs and the sun.
Since 1993 I was relatively stable apart from fragile skin in the summer,  that was until 2010 when I had a severe attack exacerbated by dithering doctors who didn't believe all my symptoms were due to Porphyria and kept treating me for other things until my wife stepped in and read them the riot act, they quickly changed their tune and handed me over to a different team who got the Heam Arginate for the UK (in USA Panhematin) and saved my l…

The Girl Who Mewed

Home»August»The Girl Who MewedFROM THE AUGUST 1995 ISSUE The Girl Who Mewed By Robert Marion|Tuesday, August 01, 1995 RELATED TAGS: GENES & HEALTH   ***NAMES HAVE BEEN CHANGED FOR PRIVACY PURPOSES***Share on twitterShare on facebookShare on emailShare on printMore Sharing Services37 Mrs. Ludlow was an attractive woman in her mid-thirties, but she looked as if she could use a good night’s sleep. Her nine-year-old daughter sat at her side. After introducing myself, I led them into my office and asked Mrs. Ludlow if she knew why she needed to see me. Well, to tell you the truth, no, she said, sighing. We’re here because the Committee on Special Education at our elementary school said they need a report from you.

Why is your daughter being evaluated?

Nicole’s a bright kid, but she’s missed so much school this year that she’s failing third grade. They’re trying to decide whether to give her home tutoring, put her in special ed, or make her repeat the year. So they want to find out why sh…

The story of Kristen Elizabeth Harris and Porphyria

My name is Kristen.  I have been diagnosed of Porphyria since I was 7 years old. This is now 11 years ago roughly. The doctors did not know what was wrong with me. They were doing ever imaginable test and kept referring me and my mother back out to so many other different specialists. The tests were coming back negative for everything and eventually the did not even believe my mother anymore and assume she was making everything up. There was a doctor in the Bronx, New York, Doctor Robert Marion at Montefiore Hospital. He was a new doctor and just studied the signs of Porphyria. After questioning my mother on the medications I was on and my symptoms he realized what I did have. My mother knew that there was some weird rare disease that her father and others in her family had but, could not remember it.  Finally after Doctor Marion asked questions and said the name she confirmed that is what our family had and my grandfather died of. 

I started associating with the  American Porphyria Fo…

NBC June 14th on EPP- Explanation from APF

Please be Sure to check out " Out of the Shadows"  experiences of people who have EPP.  The date it will air is Sunday June 14th 2015.  Please check your local NBC stations for times.
     You may ask though what exactly is EPP Porphyria?  Please feel free to read more about this explanation this information comes directly from the APF.
Erythropoietic Protoporphyria (EPP) or Protoporphyria
Erythropoietic Protoporphyria (EPP) or ProtoporphyriaErythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life.  EPP can result either from mutations of the ferrochelatase gene (FECH), or less commonly the delta-aminolevulinic acid synthase-2 gene (ALAS2).  When EPP is due to an ALAS2 mutation it is termed X-linked protoporphyria (XLP), because that gene is found…

Natalia Nikova Summer Vacation and AIP

It's summer time have you taken a vacation yet? Please read the reminders off a new personal experience from Natalia Nikova

Acute Intermittent Porphyria
Beware of MountainsMy name is Natalia Nikova.  I was born in Russia in St. Petersburg.  I have AIP.I went through horrible surgeries and sufferings in Russia before I was properly diagnosed.  That happened when I was between 25 and 30 years old.After that I was receiving capsules of Adenil through the Red Cross for about four years and injecting myself two times a day.  My recovery was very slow but at the age of 39 I started to feel better and I was able to immigrate to the USA with my daughter and my mother.I managed to change my profession from Choral conductor to a computer programmer to support my family and my porphyria's symptoms almost disappeared. Now I am 63 years old and in August 2004 all of a sudden I had a reminder. I and my husband went to Peru.  I got immediately sick in Cusco from the high altitude but the alti…

Longitudinal Study of the Porphyrias

              Longitudinal Study of the PorphyriasWe are looking for patients volunteers for the 7201 Longitudinal Study of the Porphyrias. Participants of this study DON'T have to travel to the research site. All that needed is to answer porphyria-related questionnaire over the phone. You will be working closely with porphyria experts and researchers.  The purpose of this long-term follow-up study is to provide a better understanding of the natural history of porphyrias, as affected by available therapies, and to aid in developing new forms of treatment.Volunteering for research is the most important action you can take to change your future health because Research is the Key to Your Cure.  You can be a Medical Hero and join many patients, who gave some of their time to help find important answers leading to new and improved treatments and a cure. In order to participate in a study, please contact us at the APF 866-apf-3635.
"Remember....Research is the key to your cure!&quo…

True Joy Poem

True Joy
I'll be happy once I've done this certain thing.
We all say this often not realizing what it brings.
We look only to the future for our happiness.
Letting life slip through our fingers in its fullness.
Will we really feel complete when the task is done, 
or look back and see how we missed so much fun?
Self consumed so we can't see anything else, 
hurting those we love as well as ourselves.
So many things around us to be grateful for, 
when seeking for an answer willingly open the door.
So often, others see what's in front of our face, 
but we're too blind to look as we're snared in the race.
What is this life supposed to be about?
Is it money, fortune, fame, or a big house?
When speaking to a man on his dying bed,
none of these answers are what he said.
Family, love, laughter are what we should seek.
These are the precious things right outside your door.
                               "Remember....Research is the key to your cure