Wednesday, September 30, 2015

Do you have Porphyria?

Symptoms:  Do you have a porphyria?

The Acute Porphyrias:

According to Porphyria experts, approximately 80% of individuals who carry a gene mutation for acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria, and  remain asymptomatic, and others may have only one or a few acute attacks throughout life.  In most of these cases levels of ALA, porphobilinogen, and porphyrins in urine, serum, and feces are normal. Additionally, most patients with ALA-dehydratase deficiency porphyria also remain asymptomatic for most of their lives.  Severe abdominal pain, the most frequent symptom, is diffuse rather than localized and is often accompanied by nausea, vomiting, bloating, constipation, and sometimes diarrhea. Other symptoms include insomnia (often an early symptom), heart palpitations, seizures (sometimes due to salt imbalance in the body as a result of excessive vomiting and/or diarrhea), restlessness, hallucinations, and other acute psychiatric symptoms.
The common symptoms of the acute porphyrias include:
  1. Abdominal pain:  severe, diffuse, usually lasting for hours or longer
  2. Vomiting
  3. Constipation
  4. Diarrhea
  5. Pain in extremities, back, chest, neck, or head
  6. Loss or impairment of movement
  7. Respiratory paralysis
  8. Behavioral changes, including agitation, confusion, hallucinations, and depression.
  9. Convulsions, as a result of excessive vomiting and/or diarrhea
  10. Increased heart rate

The Cutaneous Porphyrias

The most common symptoms of the cutaneous porphyrias are photosensitivity and/or skin fragility. Photosensitivity presents within minutes of exposure to sun and some types of artificial light with severe burning pain especially on the back of the hands, the face, and the top of the feet. Attacks may last for 2–3 days, and are usually unresponsive to any pain medication except cold air and cold water. Except in EPP, this is often accompanied by painful blisters which can take weeks to heal, may bleed, and result in scarring and changes in skin color at the sites of the blisters. In CEP, this photosensitivity may lead to mutilation and loss of facial features and fingers. Patients with PCT, HEP, and CEP may also present with increased hair growth, typically on the temples. Additionally in CEP, brownish-colored teeth which fluoresce under ultraviolet light and mild or severe hemolytic anemia are common.
The common symptoms of the cutaneous porphyrias include:
  1. Sensitivity to sunlight
  2. Fragile skin
Depending on the type of cutaneous porphyria, the following symptoms may also be present:
  1. Blistering
  2. Scarring
  3. Changes in skin color
  4. Increased hair growth
  5. Anemia
  6. Teeth discoloration
  7. Bone fragility or bone loss, due to Vitamin D deficiency
                                "Remember....Research is the key to your cure!"

Monday, September 28, 2015

Experiences in Research Studies A Must read!

Dear APF Members, family and friends:

I thought you would want to know that the APF has been collecting Research experience stories that are now on the APF Member stories section on the website labeled Research Experience (Next to their name)  

Please take some time to read each members experience. We still need you to participate in research, we are rare so please take a few moments to consider volunteering your time for a wonderful cause. Feel free to click on the link above. Be a Medical Hero today!

Friday, September 25, 2015

Have a happy and healthy Autumn to ALL


              Have a happy and healthy Autumn everyone!
                     American Porphyria Foundation 

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

Clinical Trials for Acute Porphyrias we still need you!

We still need Medical Heroes for Acute Porphyrias. Part 2

Check out this one.  Please contact the APF:  1-866-APF-3635 ask for Jessica or Natalia for more Information

Trial record 3 of 24 for:    alnylam

A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2015 by Alnylam Pharmaceuticals
Information provided by (Responsible Party):
Alnylam Pharmaceuticals Identifier:
First received: May 19, 2015
Last updated: May 21, 2015
Last verified: May 2015
The purpose of this study is to evaluate the safety and tolerability of ALN-AS1 in AIP patients as well as to characterize pharmacokinetics (PK) and pharmacodynamics (PD) of ALN-AS1 in AIP patients.

Acute Intermittent PorphyriaDrug: ALN-AS1
Drug: Sterile Normal Saline (0.9% NaCl)
Phase 1

Study Type:Interventional
Study Design:Allocation: Randomized
Endpoint Classification: Safety Study
Intervention Model: Parallel Assignment
Masking: Single Blind (Subject)
Primary Purpose: Treatment
Official Title:A Phase 1, Single-ascending Dose, Multiple-ascending Dose, and Multi-dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN AS1 in Patients With Acute Intermittent Porphyria (AIP)

Resource links provided by NLM:

Further study details as provided by Alnylam Pharmaceuticals:

Primary Outcome Measures:
  • The safety of ALN-AS1 evaluated by the proportion of subjects experiencing adverse events (AEs), serious adverse events (SAEs), and AEs leading to study drug discontinuation [ Time Frame: Part A (SAD phase): through day 42; Part B (MAD) phase: through Day 70; Part C (MD) phase: through Day 126 ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:
  • Profile of Pharmacokinetics (PK) of ALN-AS1 [ Time Frame: Part A (SAD) phase: predose - 42 days post-dose; Part B (MAD) phase: predose - 70 days post-dose; Part C (MD) phase: predose - 126 days post-dose ] [ Designated as safety issue: No ]
    Cmax, tmax, AUC, t1/2
  • The change in delta-aminolevulinic acid (ALA) from baseline [ Time Frame: Part A (SAD) phase: screening - 42 days post-dose; Part B (MAD) phase: screening - 70 days post-dose; Part C (MD) phase: screening - 126 days post-dose ] [ Designated as safety issue: No ]
  • The change in Porphobilinogen (PBG) from baseline [ Time Frame: Part A (SAD) phase: screening - 42 days post-dose; Part B (MAD) phase: screening - 70 days post-dose; Part C (MD) phase: screening - 126 days post-dose ] [ Designated as safety issue: No ]

Estimated Enrollment:48
Study Start Date:May 2015
Estimated Study Completion Date:July 2016
Estimated Primary Completion Date:May 2016 (Final data collection date for primary outcome measure)
ArmsAssigned Interventions
Active Comparator: ALN-AS1Drug: ALN-AS1
Single or multiple doses of ALN-AS1 by subcutaneous (sc) injection
Placebo Comparator: Sterile Normal Saline (0.9% NaCl)Drug: Sterile Normal Saline (0.9% NaCl)
calculated volume to match active comparator


Ages Eligible for Study:  18 Years to 65 Years
Genders Eligible for Study:  Both
Accepts Healthy Volunteers:  No
Parts A and B
Inclusion Criteria:
  • Diagnosis of AIP
  • Urine PBG at Screening indicating patient is a high excreter
  • No clinically significant health concerns
  • Women of child bearing potential must have a negative pregnancy test, not be nursing, and use effective contraception
  • Willing to provide written informed consent and willing to comply with study requirements.
Exclusion Criteria:
  • Porphyria attack within 6 months of screening
  • Started a new prescription medication within 3 months of screening
  • Clinically significant abnormal laboratory results
  • Received an investigational agent within 90 days before the first dose of study drug or are in follow-up of another clinical study
  • History of multiple drug allergies or intolerance to subcutaneous injection
Part C
Inclusion Criteria:
  • Diagnosis of AIP
  • Patient experienced a porphyria attack or was taking medication to prevent attacks recently
  • No clinically significant health concerns
  • Women of child bearing potential must have a negative pregnancy test, not be nursing, and use effective contraception
  • Willing to provide written informed consent and willing to comply with study requirements.
Exclusion Criteria:
  • Stared a new prescription medication within 3 months of screening
  • Clinically significant abnormal laboratory results
  • Received an investigational agent within 90 days before the first dose of study drug or are in follow-up of another clinical study
  • History of multiple drug allergies or intolerance to subcutaneous injection
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02452372

Wednesday, September 23, 2015

Here is some New Information. Part 1 of 2 Press Release for the Acute Type Porphyrias

Here is some New Information.  Part 1 of 2 Press Release for the Acute Type Porphyrias

September 16, 2015

Dear Alnylam Patient Connect Community,

We are excited to share news of clinical progress with ALN-AS1, a subcutaneously administered (i.e., injection), investigational RNAi therapeutic targeting aminolevulinic acid synthase 1 (ALAS1) for the treatment of acute hepatic porphyrias. On September 15th, we presented initial clinical data from our ongoing Phase 1 study of ALN-AS1 during an oral presentation at the International Congress of Porphyrins and Porphyrias (ICPP) in Dusseldorf, Germany.

You can read our press release and view our data presentation here.

We are very excited by the data from our ALN-AS1 program. On behalf of all of us at Alnylam, we are committed to advancing this novel, investigational medicine for people living with hepatic porphyrias.

Alnylam Patient Connect

Note:  If you are a patient, we encourage you to speak to your physician to obtain information about our clinical trials.  Detailed information about our trials can be found

Monday, September 21, 2015

SCENESSE® Released for European Distribution

SCENESSE® Released for European Distribution

Clinuvel Pharmaceuticals Limited (ASX: CUV; ADR:CLVLY; XETRA:DAX) announces today that the European Medicines Agency’s (EMA’s) Pharmacovigilance and Risk Committee (PRAC) has agreed to a Post Authorisation Safety Study (PASS) protocol, allowing SCENESSE® (afamelanotide 16mg) to be released for the commercial supply to adult patients diagnosed with erythropoietic protoporphyria (EPP). While SCENESSE® was granted European marketing authorisation by the European Commission on 22 December 2014, it has taken a further nine months to gain agreement on the proposed PASS protocol.
Read the attachment from Clinuvel for the details: SCENESSE® released for European Distribution
                         "Remember....Research is the key to your cure!"

New Fundraiser: The Barrel Race in Vernon, TX

 The Barrel Race in Vernon, TX

Today we would like to tell you about the upcoming undertaking from the Cook family. As you may know, the Cook brothers, Cason and Caul, have EPP and have set a great example about enhancing awareness of the disease in their local area. They have been hosting a Hat Day for many years in their home town of Vernon, TX. This year, in addition to a Hat Day, Cason & Caul are hosting The Shadow Race (benefit barrel race) in Vernon, TX in November.  They are getting some t-shirts together to sell as well. We appreciate all your support in raising awareness! 


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

Friday, September 18, 2015

Purple Poem of Porphyria

Where I'm from, everything is in purple

It is so beautiful but everyone wants out
Because where I'm from all is purple, all is one

In here, we can see the whole color spectrum
Be it orange, be it green, perhaps red, or maybe black

In the end though only purple is on our mind
They don't have that purple here
here, it's nowhere to be found

Embrace that you are special
a rare precious gem
We are Porphyria strong!

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


Wednesday, September 16, 2015

Porphyria: A Lyon's Share of Trouble an Update

If you read the first edition, you will want to read what has happened over the past ten years. 

In this remarkable updated book, Desiree offers an information rich discussion of the porphyrias, a group of rare metabolic diseases. She also discusses her own case, as well as those of many other patients whom she has helped over the past thirty five years as co-founder and Executive Director of the American Porphyria Foundation. 

Desiree embraces the challenges of porphyria with courage and humor and writes about them in an open and honest dialogue. After twenty-five years as a medical writer, she has delineated the new and exciting developments in the treatments of all the porphyrias, offering explanations about this complicated group of diseases in a readable manner. 

Every patient and family member will derive tremendous insight and guidance from Desiree’s experience, as well as vital information to aid in navigating the complexities involved in confronting and surmounting the porphyrias. 

*All proceeds from Porphyria: A Lyon's Share of Trouble an Update go directly to the American Porphyria Foundation. ~ To order your copy today

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

Monday, September 14, 2015

We need you! Longitudinal Study of the Porphyrias

Longitudinal Study of the Porphyrias
We are looking for patients volunteers for the 7201 Longitudinal Study of the Porphyrias. 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. You will be working closely with porphyria experts and researchers.
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.
To find out more information and participate in a study, please contact us at the APF 866-apf-3635 to be put in touch with the study center closest to you.

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

Monday, September 7, 2015

PCT- Facts from NIH

Phlebotomy, known also as bloodletting or venesection, is a major therapeutic procedure that has been performed by physicians in various civilisations since antiquity up to the present,. In the past it was practised using cupping, lancets or by the application of leeches. This procedure often weakened the patient and resulted in his or her death. A famous example is that of President George Washington who died in 1799 following the removal of approximately 1.7 litres of blood during a bloodletting procedure for acute epiglottitis. Originally, several thousand years ago, phlebotomy was used for the treatment of various disorders, but in addition to its therapeutic benefits, phlebotomy also had a preventive role. In present day medicine, phlebotomy can be performed in physicians’ offices, at a blood bank or in hospital under the supervision of a doctor after obtaining a medical prescription stating the indication and number of phlebotomy sessions required. Currently, therapeutic phlebotomy is approved for three main indications: haemochromatosis, polycythaemia vera and porphyria cutanea tarda. It has also been used as a treatment alternative for many other diseases in various countries, especially in Chinese medicine, although these indications are not approved by western medicine.

Porphyria cutanea tarda

Porphyria cutanea tarda (PCT) is a rare metabolic disorder caused by uroporphyrinogen decarboxylase deficiency that leads to the accumulation of uroporphyrinogen and highly carboxylated porphyrins in the liver, plasma, urine and sometimes faeces. There are three types of PCT: two familial and one sporadic. Most of the cases are sporadic (80% approximately) and have been associated with several risk factors such as alcohol abuse, hepatitis C, oestrogen use, smoking, hepatic siderosis and human immunodeficiency virus infection. Hepatitis C is one of the most important risk factors; in a recent systematic review and meta-analysis, 50% of PCT patients were found to have hepatitis C infection suggesting an important role in the pathogenesis of PCT although the pathophysiology is still unclear,HFE gene mutations, especially C282Y homozygosis, has also been found in PCT patients, which explains the iron excess in this disorder, although true haemochromatosis is rare.
Clinically, PCT is characterised by chronic blistering skin manifestations that include photosensitivity, increased skin fragility with bullae, erosions, and hyper- or hypo-pigmentation that affects sun-exposed areas of the body; however, these skin manifestations are not specific and they do not confirm the diagnosis. Liver involvement is also common especially in the sporadic form with cirrhosis, fibrosis and increased risk of hepatocellular carcinoma. The diagnosis of PCT requires both clinical and biochemical features. Laboratory investigations include porphyrin chromatographic separation that shows markedly increased uroporphyrins and heptacarboxyl porphyrins in plasma and/or urine, with lesser amounts of penta- and hexa-carboxyl porphyrins. Faecal porphyrins, consisting mainly of isocoproporphyrins, are also increased while the erythrocyte porphyrins are normal. UROD activity analysis with gene sequencing is essential in familial PCT.
Liver biopsy is indicated in the event of liver damage demonstrated by markedly increased serum transaminase levels, while skin biopsy is of little benefit because it often only shows sub-epidermal bullae with minimal inflammation. An important aspect of treatment is the avoidance of any risk factors such as alcohol, excessive iron or oestrogen and hepatitis C that can potentially exacerbate the disorder. Therapeutic phlebotomy has long been considered the treatment of choice in most patients with PCT; hydroxychloroquine is the alternative treatment if phlebotomies cannot be tolerated. According to Rocchiet al., 450 mL of whole blood should be removed during each phlebotomy session, with sessions repeated every 2 weeks until the haemoglobin level is below 11 g/ dL or until the serum ferritin level is below 20 ng/ mL, which is close to the lower limit of normal. Most patients require 6 months to achieve remission but clinical improvement may be noted during the third month after starting phlebotomy. Hydroxychloroquine was found to be superior to phlebotomy in decreasing porphyrin production; however, liver disease was more severe in the hydroxychloroquine group. No difference was seen between therapeutic phlebotomy and desferrioxamine injection.
Skin blistering was the first sign to disappear in patients, at an average of 2 to 3 months and a maximum of 9 months; this was followed by improvement of skin fragility, hypertrichosis and hyper- or hypo-pigmentation while pseudoscleroderma may improve in some patients. Urinary porphyrin levels return to normal but although liver function tests may improve following phlebotomy, the extent of liver damage does not improve,. Phlebotomy must be stopped after achieving remission or when iron deficiency anaemia occurs; however, relapse may occur during the first 5 years of treatment especially when risk factors are still present, such as excessive alcohol consumption.

For the full article please use this link:

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

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...