Monday, November 30, 2015


November 25, 2015

Dear EPP Family,

We are a volunteer team, working with the APF to secure your EPP patient experiences in letter-form so that we can take them collectively to the FDA to ask them for the accelerated approval of the drug Afamelanotide.

Your contributions to previous letter campaigns worked.  They convinced the FDA to approve Phase III of the drug trials in the USA, and our American letters helped convince the European Medicines Agency to grant approval of the drug in the European Union.  Now it is our turn to seek approval for Afamelanotide by the FDA in the USA!

Our goal is twofold:  (1) to collect more than 300 letters from patients, family and friends by December 15, 2015 and (2) for all of us to reach out to our US Congress Representatives to ask for their help. 

Enclosed please find an overview of the letter writing campaign with tips and instructions (who, what, why, where and when).  In addition, there is a US Congressional Caucus called the Rare Disease Legislative Advocates (RDLA).  You can ask your Congress Member to join.  Simple instructions and an online link are also enclosed.  It takes less than 5 minutes to complete the request online!

If you have any questions, please reach out to us or to the APF.  Let's make this happen.  Patient advocacy works. THANK YOU FOR PARTICIPATING!


Rebecca Griffiths:
George Hodder:
Victor Mejias:
Pierre Mouledoux:
Martha Peterson:
Gayle von Seggern:

NOVEMBER 25, 2015

·         You (Erythropoietic Protoporphyria patients), your family and your friends
·         Please note that this is a patient-driven letter writing campaign as we are acting independently of the drug company

·         We need to collect as many patient EPP experiences as possible addressed to the Director at the Center for Drug Evaluation and Research at the FDA's Division of Dermatology
(See enclosed letter template)
·         You may also wish to send a copy of your letter to your US Congress Representative and Senators in Washington DC.  Please look them up through this link and add their names to the cc list at the end of your letter.  We will ensure a copy is sent to them.
·         Once we collect all your letters, the APF will deliver the full stack of letters, in person, to the FDA and ask for the accelerated approval for Afamelanotide
(This meeting is likely to happen in January 2016)
·         We ask that each patient with EPP commit to providing at least 3 letters (from yourself and at least 2 others; of course, more than 3 letters is most welcome)
·         Parents of EPP children, we especially encourage the children to participate and write letters

Tips for Patient Letters:
o    Please ask for the FDA to accelerate the approval for Afamelanotide
o    Please focus your letters on 4 topics that we know the FDA is keen to understand the most.  These are topics that only, us patients, can tell:  How EPP affects your ability (1) to attend school and/or (2) work and/or (3) complete everyday tasks as well as  (4) your experience during the drug trials, if applicable
o    Although EPP skin reactions are not always visible, if you have photos that demonstrate swelling, scarring, scabbing etc., please include them with your letters
Tips for Friends and Family Letters:  
o    Please ask for the FDA to accelerate the approval for Afamelanotide
o    Please focus your letters on your observations of how EPP affects your friend or family member, how hard it is for him/her (the EPP patient) and even how it effects him/her as well as how it affects you and/or your family
·         Patient advocacy works
·         We believe that our advocacy is critical to ensure approval of the drug
·         Independent of the drug company, it is important that we demonstrate why we need this drug

·         Do NOT send your letters directly to the FDA
(1)    The American Porphyria Foundation, 4900 Woodway, Suite 780, Houston, TX 77056
(2)    OR Email:
·         Send a signed hard copy by mail to the APF OR scan your signed letter and email it electronically to the APF

·         Please provide letters to the APF by December 15, 2015

* * * * *

Letter Template

[Insert Date]

Kendall Marcus, M.D.
Director, Division of Dermatology and Dental Products
Center for Drug Evaluation and Research
Food and Drug Administration
White Oak Campus, WO 22/Rm. 5202
10903 New Hampshire Avenue
Silver Spring, MD 20993

Dear Dr. Marcus:

[Insert your letter here]


[Your signature here]
[Insert your name here]
Age, [insert] years old
[Insert your address here:
# Street
Town, State  Zip Code]

[EPP patients, please cc your one US Congress Representative and your two US Senators, e.g.:

cc: The Honorable Cory Booker (D-NJ, United States Senate), The Honorable Bob Menendez (D-NJ, United States Senate), The Honorable Rodney Frelinghuysen (R-NJ, 11th District, United States Congress)]


An excerpt from the RDLA's website:

Rare Disease Legislative Advocates (RDLA) is a collaborative organization designed to support the advocacy of all rare disease groups. Our goal is to empower the patient to become an advocate! By growing the patient advocacy community & working collectively we can amplify our many voices to ensure rare disease patients are heard in State & Federal Government.

As an advocate for patients with rare diseases you are a very important part of the legislative process. You can make the difference as you are the voices your legislators and congressmen want, or in some cases do not want to hear. Please complete the form via the link below and contact your Member of Congress to ask them to join the RDLA.

EPP Patients: 

The RDLA has made it simple for you to send your Congress Member an email letter request.  All you need to do is copy and paste this link into your online browser to go to their website form.  Then input your name and address.  Your Congress Member's details will automatically populate a letter request and you will be able to insert a few sentences about yourself and EPP and send the email:         

Notice: You will send the original letter to the APF and send a copy to your Congressmen.

Thank you

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

Thursday, November 26, 2015

Public Service Announcement American Porphyria Foundation

We hope that you will enjoy this wonderful day with good health in mind.  We thank you for all of your support and will continue to bring you new research and information about EPP Drug approval and Acute Porphyria Studies starting soon.  If you have any questions please feel free to contact the APF 1-866-APF-3635.  We thank you again for your continued support.  Stay Happy & Well.

                                                           APF Staff & Volunteers

Image result for thanksgiving

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

Wednesday, November 25, 2015

Shadow Race in Vernon, TX was a success!

Shadow Race in Vernon, TX was a success!
The Cook Family: "Thank you to all of the sponsors for the 1st Annual Shadow Race in Vernon, Texas!  We cannot thank you enough for the support in raising awareness for Porphyria.  In our 1st annual race we were able to collect monetary donations, totaling $5000 for the "added money".  Also donated were items such as custom made buckles, custom made spur straps, Total Equine Feed, head stalls, hay bags, rope halters, and other horse maintenance supplies.   Pizza, candy, homemade cinnamon rolls, and drinks were donated for the concession stand and t-shirts were sold.  In all we were able to donate $4000 to the American Porphyria Foundation and pay out $11,600 to the winners!  A huge thank you to all that supported and or donated!  We look forward to the 2nd Annual Shadow Race in 2016 and hope you will consider giving again!"

Cason and Caul, brothers with EPP.

Friday, November 20, 2015

From NCBI CYP2D6 Polymorphisms in Patients with Porphyria PCT Type

Logo of molmedLink to Publisher's site
Mol Med. 2006 Sep-Oct; 12(9-10): 259–263.
PMCID: PMC1770015

CYP2D6 Polymorphisms in Patients with Porphyrias


The cytochrome P-450 (CYP) isoenzymes are a superfamily of heme proteins which are the terminal oxidases of the mixed-function oxidase system (). The 1 to 3 families of CYP are responsible for 70% to 80% of all phase I–dependent metabolism of clinically used drugs (). CYP2D6 isoform metabolizes more than 25% of most common drugs, including antiarrhythmics, antidepressants, beta blockers, neuroleptics, and opioids (). CYP2D6 gene is extremely polymorphic, and more than 70 allelic variants have been described (,); as a result, metabolism and excretion rates of drugs vary between individuals, from extremely slow to ultra-fast. Different phenotypes can be distinguished: poor metabolizers (PM) lack the functional enzyme; intermediate metabolizers (IM) carry 2 different alleles, leading to partial activity; efficient metabolizers (EM) have 2 normal alleles; efficient intermediate metabolizers (EIM) are heterozygous for 1 deficient allele; and ultra-rapid metabolizers (UM) have multiple gene copies (). The clinical consequences of genetic polymorphisms in drug metabolism depend on whether the activity of the drug lies with the substrate or its metabolite, as well as the extent to which the affected pathway contributes to the overall elimination of the drug (). For example, the mutant CYP2D6*3 (CYP2D6A) allele with the A2637 deletion in exon 5 and the mutant CYP2D6*4 (CYP2D6B) allele with a G1934A splice site defect are among the most common mutations. These mutations result in decreased or lack of CYP2D6 isoenzyme activity, leading to PM phenotype (). PM individuals have an increased risk for adverse side effects or therapeutic failure following drug treatment.
Porphyrias are a group of inherited or acquired metabolic disorders of heme biosynthesis in which specific patterns of overproduction of heme precursors are associated with characteristic clinical features. Each type of porphyria is the result of a specific decrease in the activity of one of the enzymes of the heme pathway (). Porphyrias are classified as acute, cutaneous, or mixed according to clinical features. Acute attacks characteristic of acute intermittent porphyria (AIP) and variegate porphyria (VP), both hereditary, are often triggered by exposure to exogenous precipitating factors () including a wide range of commonly prescribed drugs. There are two main forms of porphyria cutanea tarda (PCT): type I (sporadic or acquired) and type II (familial or hereditary) in which the enzyme activity of uroporphyrinogen decarboxylase (URO-D) is reduced to approximately 50% of normal in all tissues. In type I PCT, subnormal URO-D activity is restricted to the liver. There is also a form of familial PCT called type III, in which a family history of PCT is observed, but subnormal URO-D activity is restricted to the liver. No mutations have been found in the URO-D gene in types I and III. PCT triggering is frequently associated with exposure to precipitating agents, such as polyhalogenated aromatic hydrocarbons, alcohol abuse, estrogen ingestion, iron overload, and infections ().
CYP enzymes participate in the metabolism of some porphyrinogenic drugs, leading to the deregulation of heme biosynthesis, which would influence the pathogenesis of porphyrias. Considering that some of the drugs not recommended for use in porphyric patients are metabolized by CYP2D6, inheritance of polymorphic CYP2D6 metabolizing genes would be an important determinant of individual variation in acute symptoms. Moreover, the presence of CYP2D6 polymorphisms in porphyric patients with genetic or biochemical alterations in any of the enzymes of the heme pathway would influence the triggering of the disease when these individuals received a precipitating agent that was metabolized by CYP2D6. The aim of this work was to investigate CYP2D6 polymorphisms in porphyric patients. To this end, CYP2D6*3 and CYP2D6*4 alleles were studied in healthy volunteers, porphyric patients, and a group of individuals with high levels of iron.


All primers used for PCR analysis were synthesized by Fagos Laboratory (Buenos Aires, Argentina). All other chemicals and reagents were of molecular grade from Merck, Sigma, Promega, Ambion, Bio Labs and Amersham; Taq DNA polymerase was from Invitrogen. Digestion enzymes were from Bio Labs.


A total of 120 subjects—51 healthy volunteers, 50 porphyric patients, and 19 individuals with high iron levels—were included in the study, all of Caucasian origin. The porphyric patient group (Table 1), previously studied in the Centro de Investigaciones sobre Porfirinas y Porfirias, consisted of 20 individuals diagnosed with AIP, 15 with PCT, and 15 with VP. All patients were diagnosed biochemically and genetically except 3 PCT individuals who were diagnosed only biochemically. All the individuals with high iron levels were normal for mutations in HFE gene responsible for hereditary hemochromatosis type I. All subjects gave their informed consent to participate in this study.
Table 1
Data of patients with porphyria.


Genomic DNA was extracted from EDTA-collected whole blood samples using the GFX Genomic Blood DNA Purification Kit (Amersham). Target DNA (0.5–1 μg) was amplified by PCR as described by Daly et al. () with slight modifications. CYP2D6*3 and CYP2D6*4 alleles were detected by amplification of the region of interest using primers G1 (bp 1827–1846; 5′-TGCCGCCTTCGCCAA CCACT-3′) and B1 (bp 2638–2657; 5′-GGCTGGGTCCCAGGTCATAC-3′). The reaction was carried out in a total volume of 50 μl containing 14 mM Tris-HCl, pH 8.3, 2 mM MgCl2, 5% dimethyl sulfoxide with 0.2 mM dTNPs, 0.52 μM primers, and 2.5 units Taq DNA polymerase. For amplification, 30 cycles were carried out of 1 min at 95 °C, 1 min at 62 °C, and 3 min at 70 °C in a PTC 100 Research Mini Cycle thermocycler. The product (25 μL) was digested with 12.5 units of BsaAI and 15 units of BstNI restriction enzymes, at 50 °C for 3 h. To control the digestion by BsaAI, GADPH gene, amplified by separate PCR reaction, was added to the CYP2D6 digestion. The GAPDH PCR was carried out using the primers R4 (5′-AGAAACAGGAGGTCCCTACT-3′) and R5 (5′-GTCGGGTCAACGCTA GGCTG-3′) and similar conditions to those for CYP2D6 amplification. The digest was analyzed on a 8% polyacrylamide gel using 1% TBE as the buffer, and the gel was stained with ethidium bromide.

Statistical analysis

Data were analyzed using χ2 test. P < 0.05 was considered significant.


Figure 1 shows representative band patterns found for wild-type and CYP2D6*3 and CYP2D6*4 mutant variants of CYP2D6 gene in all the subjects analyzed. Between 3 and 6 bands for mutant and wild-type variants were observed. One of these bands was distinctive for CYP2D6*3 (160 bp) and the other was distinctive for CYP2D6*4 (388 bp). wt/wt pattern showed 4 bands (280, 168, 139, and 109 bp). In the case of wt/*3 or wt/*4, bands of 160 bp and 388 bp appeared, respectively. *3/*3 pattern presented the band of 160 bp but not the corresponding band of 168 bp; in *4/*4 pattern, the band of 388 bp was present while the bands of 109 bp and 280 bp were absent. *3/*4 individuals presented both bands of 160 bp and 388 bp. The bands of 500 bp corresponded to GAPDH gene.
Figure 1
Representative band patterns of CYP2D6*3 and CYP2D6*4 alleles. Band pattern observed for the wild-type (wt/wt ), heterozygous (*3/wt, *4/wt ), compound heterozygous (*3/*4), and homozygous (*3/*3, *4/*4) CYP2D6 alleles. M indicates marker of 100 bp. Lanes ...
Genotype distribution of CYP2D6 alleles among healthy subjects and porphyric patients is shown in Table 2. In the control group, 5.8% (3 of 51) were heterozygous for CYP2D6*3 and 33.3% (17 of 51) for CYP2D6*4 allele; 1 of 51 (1.9%) was homozygous for CYP2D6*3 and CYP2D6*4. In the PCT group, 26.6% (4 of 15) were heterozygous for CYP2D6*4 and 1 of 15 (6.6%) was homozygous for this allele. In the AIP group, 10% (2 of 20) were heterozygous for CYP2D6*4. In the VP group, 26.6% (4 of 15) were heterozygous for CYP2D6*4, and 1 of 15 (6.6%) was double heterozygous (both CYP2D6*3 and CYP2D6*4). In individuals with high levels of iron, 15.7% (3 of 19) were heterozygous for CYP2D6*4; the same percentage were homozygous, significantly different from the control group (P < 0.05). None of the patients with porphyria or high iron was found to be homozygous for CYP2D6*3.
Table 2
Genotype distribution.
The frequency of CYP2D6 alleles observed is shown in Table 3. In the control group, 4.9% of alleles (5 of 102) were CYP2D6*3 and 18.6% (19 of 102) were CYP2D6*4. The PCT group showed a frequency of 20% (6 of 30) CYP2D6*4. In the AIP group only 5% (2 of 40) were CYP2D6*4 (P < 0.05); in the VP group, the frequency of this allele was 16.6% (5 of 30). The PV group showed a frequency of 3.3% (1 of 30) CYP2D6*3. In individuals with high levels of iron, CYP2D6*4 frequency was 23.6% (9 of 38). Results obtained for the PCT, PV, and high iron groups were no different from the control group.
Table 3
Frequency of CYP2D6 alleles.
The predicted phenotype distribution is shown in Table 4. The phenotype was predicted according to the genotypes as follows: EM carried 2 CYP2D6 wild-type alleles, EIM carried 1 deficiency and 1 wild-type allele, and PM were homozygous for 2 deficiency alleles. In the control group, 56.9% were identified as EM, 39.1% as EIM, and 3.9% as PM. In the AIP group, 90% were classified as EM and 10% as EIM. In the PCT and VP group, 66.8% were classified as EM, 26.6% as EIM, and 6.6% as PM. In the group with high levels of iron, 68.6% were identified as EM and 15.7% as EIM and PM.
Table 4
Phenotype distribution.


CYP2D6 is one of the most studied polymorphic genes, and its clinical relevance and allelic frequency have been extensively investigated in different ethnic groups (,). To date, no data in the Argentinean population or in porphyric individuals worldwide have been reported. Our results showed a frequency of 18.6% CYP2D6*4 allele in the healthy group. The frequency of this allele was similar to that reported for other Caucasian populations (,,). The CYP2D6*3 frequency found in our study (4.9%) was slightly higher than others (,,).
The analysis of predicted phenotype distribution showed a difference in the frequency of CYP2D6*3 and CYP2D6*4 alleles between the control group and porphyric patients. When the results obtained in all porphyric patients studied were analyzed, the frequency of EM phenotype was higher (P < 0.05) than in healthy controls. When each type of porphyria was analyzed separately, only the EM phenotype in the AIP group was significantly higher than the healthy group. These results indicate that polymorphisms in porphyric patients might also have a significant influence on the individual susceptibility to foreign substances and the triggering of this disease. EM would be more exposed than EIM and PM to genotoxic porphyrinogenic xenobiotic metabolites. Several authors have presented similar results in different studies performed with lung cancer and urinary bladder cancer patients (). Agündez et al. () observed a significant correlation between EM and the risk of liver cancer development.
In this study, the CYP2D6 polymorphism was also investigated in nonporphyric individuals presenting with some hepatic alterations and high levels of iron. A higher percentage of this polymorphism was found in these subjects than in the control group. These individuals would be particularly exposed for an extended time period to the possible toxic effects of unmetabolized chemicals. These findings are in agreement with other studies that revealed an association between PM and breast cancer or leukemia ().
Gardlo et al. () analyzed the CYP1A1 and CYP1A2 polymorphism prevalence in patients with PCT and suggested that the m4 polymorphism in Caucasian PCT type II patients might contribute to a higher susceptibility to porphyrinogenic compounds. In a similar study, Christiansen et al. () reported that the A/A genotype of CYP1A2 occurred significantly more often in PCT compared with the healthy control group in a Danish population.
In this study, we observed that, in the AIP group, no presence of polymorphisms was found among the 6 symptomatic patients, although 2 men with latent AIP were heterozygous for CYP2D6*4. In patients with VP, only 1 of the 7 individuals with latent VP carried the polymorphism CYP2D6*4 in the heterozygotic state. In the symptomatic VP cohort, 3 of 8 individuals possessed a heterozygous *4 allele, only 1 of whom had undergone an acute attack, while the other 2 presented only cutaneous manifestations. One woman in this group carried both polymorphisms (*3/*4). In the PCT group, among 8 individuals with hereditary PCT, 3 were heterozygous for CYP2D6*4: 1 was latent PCT; among the 3 patients with acquired PCT, 1 was heterozygous for CYP2D6*4 and another carried the same allele in the homozygous form.
Results presented here, although preliminary, demonstrated for the first time that 13% of porphyric subjects analyzed carried the CYP2D6*4 allele and only 1% carried the CYP2D6*3 allele. However, further studies in greater cohorts should be analyzed to provide a clearer picture of the extent and correlation of mutant genotypes in porphyric patients compared with healthy controls. Also, other genotyping studies should be performed for detecting the presence of other mutant alleles in these individuals, such as CYP2D6D which, like CYP2D6*3 and CYP2D6*4, is among the most common mutations leading to PM phenotype in the Caucasian population.
The information obtained with this research would have an impact on the practice of medicine in the near future. Many authors (,,) have already determined that genotyping P450 would be a useful tool to predict the pharmacogenicity of drugs. Currently, CYP2D6 polymorphisms cause interindividual variability in drug response, influencing the treatment of several diseases (,). In the case of porphyrias, some drugs have shown conflicting evidence about their porphyrinogenicity in some individuals. Predictive genotyping for CYP2D6 in porphyric patients holds promise as a method to improve the clinical efficacy of drug therapy and to personalize drug administration for these patients.


A.M. Buzaleh, V.E. Parera, and A. Batlle hold the post of Associated, Independent and Superior Scientific Researchers at the Argentine National Research Council (CONICET). J. Lavandera is a fellow from the Argentine Scientific and Technologic Agency (ASTA). This work has been supported by grants from the CONICET, the ASTA, and the University of Buenos Aires, Argentina. We wish to acknowledge Dr. M.V. Rossetti for her counseling in the optimization of the techniques used in this work.


Online address:


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Articles from Molecular Medicine are provided here courtesy of The Feinstein Institute for Medical Research at North Shore LIJ

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

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