Wednesday, August 29, 2018

Porphyria Post

Holiday Office Closure
The American Porphyria Foundation will be closed on Monday, September 3, 2018 and will re-open for normal business hours on Tuesday, September 4, 2018 in observance of Labor Day. Enjoy your weekend!

Take a look at our reminders below!

Safe/Unsafe Drug Questionnaire for the Acute Porphyrias (AIP,VP,HCP & ADP - VERY IMPORTANT
The APF is collaborating with researchers to identify new safe and unsafe drugs. We need your help. Are you experiencing adverse effects with any of your new medications? If so, please let us know in the questionnaire below how it affected you. We will share these results with our team of renowned Porphyria experts/researchers. They are in the process of updating our safe and unsafe drug list for the acute porphyrias. Your donations will help us educate physicians about the dangerous effects of unsafe drugs. Please click on the link below for the Questionnaire.

Safe and Unsafe Drug Questionnaire

http://files.constantcontact.com/b87e847f601/4fe39809-2871-4aa8-995c-e3d6c2ce606e.pdf

Panhematin Study - Participants Needed!
Do you have AIP, VP or HCP? Are you interested in participating in research? If so, we are recruiting volunteers for the Panhematin Study.

Our researchers need people to volunteer for the Panhematin study. Completing this study will help prevent insurance companies from not paying for this treatment.

The purpose of this study is to determine if Panhematin is safe and effective for prevention of acute attacks of porphyria.

Please contact Edrin at the APF office (301.347.7166) if you are interested in participating.

Harvoni Study - PCT
Do you have PCT? Are you interested in participating in research? Do you have Hepatitis C? If you answered YES to these questions, this is for you.

We need YOU for a clinical trial!

The purpose of this clinical trial is to assess whether Harvoni alone is an effective therapy in active PCT patients with Chronic Hepatitis C.

Who can participate?

• Adult patients with PCT who also have Hepatitis C

If you are interested in participating please contact Edrin Williams, Director of Patient Services at the APF office at 301.347.7166 for additional information.



EPP Clinical Trials – Participants Needed!
Are you ready to be a medical hero? A new clinical trial with an oral investigational drug intended to reduce phototoxicity in people living with EPP has begun. Don’t delay – contact the APF to learn more at 1-866-APF-3635 or porphyrus@porphyriafoundation.org

"Remember...Research is the key to YOUR cure!"
Each Step Toward Finding an Effective Treatment is Important!


Patient Education and Support Meeting

LOCATION
Cincinnati Children's Hospital | 3333 Burnett Ave. | Room S1.204 | Cincinnati, OH 45229
DATE AND TIME
09/29/18 11:00am - 09/29/18 2:00pm
This meeting will be hosted by Audrey Schering and Brandy Nicole Smith. Please let us know if you will be in attendance!

I'll be there!

Maybe

I can't make it



FDA- Chronic Pain PFDD Meeting docket comments
The last day to send in docket comments for the Chronic Pain Patient-Focused Drug Development (PFDD) Meeting is Monday, September 10, 2018! We encourage patients with chronic pain and other stakeholders to submit written comments through the regulations.gov website: https://www.regulations.gov/document?D=FDA-2018-N-1621-0001. We carefully review and consider all comments.

In addition, we want to let you all know that the meeting recording, materials, and full transcript are available on fda.gov: https://www.fda.gov/Drugs/NewsEvents/ucm603093.htm.


Thank you for participating in this meeting and in sharing your experience. If you have any questions, please email: Patient.Focused@fda.hhs.gov.

Friday, August 24, 2018

Acute Intermittent Porphyria: Symptoms, Triggers, and Other Factors Common symptoms of acute intermittent porphyria (AIP)

Acute Intermittent Porphyria: Symptoms, Triggers, and Other Factors Common symptoms of acute intermittent porphyria (AIP) 

AIP can cause many different symptoms that tend to come and go. When someone with AIP has symptoms, the episode is called an AIP attack. A person may have certain symptoms during one attack but different symptoms during other attack. Severe abdominal pain 
• Severe abdominal pain is the most common symptom of AIP. More than 85% of people have abdominal pain during AIP attacks. 
• The pain often lasts for hours or days. 
• The pain tends to begin slowly and become worse. 
• The pain tends to be all over and not in one small area. 
• The pain may start in the chest or back and move to the abdomen.
 • Pain medicines such as Advil® (ibuprofen) or Tylenol® (acetaminophen) usually don’t help much. This is because the pain is caused by nerves. Nausea or vomiting 
• Nausea or vomiting is common during AIP attacks. 
• People with AIP often have nausea or vomiting along with abdominal pain. Constipation • Constipation is common during AIP attacks. 
• Loss of bladder control may go along with constipation. Dark or reddish urine • Urine that turns reddish or dark over time when exposed to light and air is common during AIP attacks. 
• The change in urine color is due to certain chemicals in the urine during AIP attacks. Muscle weakness 
• Muscle weakness is common during AIP attacks. 
• Muscle weakness usually begins in the arms and often in the shoulders. 2 Common symptoms of AIP (cont.) Pain in the arms, legs, back, chest, neck, or head 

• Abdominal pain is the most common symptom of AIP. But pain in other areas is also common.
 • Pain may start in the chest or back and move to the abdomen. 
• Pain medicines such as Advil® (ibuprofen) or Tylenol® (acetaminophen) usually don’t help much. This is because the pain is caused by nerves. 

Fast heartbeat • Fast heartbeat is common during AIP attacks. 

High blood pressure • High blood pressure is common during AIP attacks. Emotional changes 
• People with AIP often experience emotional changes. 
• Certain emotional changes may mean that an attack is coming on. These changes include: 
 Feeling anxious or restless o Having a hard time sleeping 
• Over time, more severe emotional changes may develop, such as: o Feeling upset or confused o Seeing or hearing things that aren’t there  Feeling sad or depressed Frequency of symptoms 
• AIP attacks are “acute” and “intermittent,” meaning they tend to come and go. Gender and AIP • AIP attacks are 4 to 5 times more common in women than in men. 
• AIP attacks are more common during child-bearing years, often in women in their thirties. 3 Possible triggers for AIP symptoms If you have AIP, certain things may upset your body’s chemical balance enough to cause symptoms. One or a combination of triggers can lead to an AIP attack. Monthly cycle/hormone changes 
• AIP attacks are more common during the two weeks before periods start. 
• Hormones fluctuate the most during these two weeks. Monthly cycle/hormone changes • Dietary changes, such as going on a diet or fasting, are common triggers of AIP attacks. Medicines 
• Taking certain kinds of medicines, including estrogens (oral contraceptives), barbiturates (sometimes used to aid sleep or treat epilepsy), steroids (body hormone-like drugs), and some antibiotics, can trigger AIP attacks. 
• Starting a new medicine may trigger an AIP attack. Substance use 
• Drinking alcohol, smoking cigarettes, or using illegal drugs such as amphetamines or cocaine may trigger AIP attacks. Sickness or infections 
• Stress on the body caused by infections, illness, or surgery may trigger AIP attacks. Family history of AIP • AIP is caused by a partial lack of an enzyme that the body needs. AIP is inherited—people with the enzyme deficiency are born with it. 
• You can inherit the enzyme deficiency from one parent. If you do, you can have AIP. But most people with the enzyme deficiency never have symptoms. Untreated AIP attacks can cause serious, long-term health problems. If you think you may have AIP, work closely with your doctor to get a correct diagnosis and treatment that is right for you. 

4 References Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005;142:439-450. Besur S, Hou W, Schmeltzer P, Bonkovsky HL. Clinically important features of porphyrin and heme metabolism and the porphyrias. Metabolites. 2014;4:977-1006. Crimlisk HL. The little imitator—porphyria: a neuropsychiatric disorder. J Neurol Neurosurg Psychiatry. 1997;62:319-328. Elder GH, Hift RJ. Treatment of acute porphyria. Hosp Med. 2001;62(7):422-425. Gonzalez-Arriaza HL, Bostwick JM. Acute porphyrias: a case report and review. Am J Psych. 2003;160(3);450-458. Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Gen. 2015;8:201-214. Ventura P, Cappellini MD, Rocchi E. The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine. Intern Emerg Med. 2009;4:297-308.

Wednesday, August 22, 2018

Porphyria Post

Porphyria Post
Harvoni Study - PCT
Do you have PCT? Are you interested in participating in research? Do you have Hepatitis C? If you answered YES to these questions, this is for you.

We need YOU for a clinical trial!

The purpose of this clinical trial is to assess whether Harvoni alone is an effective therapy in active PCT patients with Chronic Hepatitis C.

Who can participate?

• Adult patients with PCT who also have Hepatitis C

If you are interested in participating please contact Edrin Williams, Director of Patient Services at the APF office at 301.347.7166 for additional information.
EPP Clinical Trials – Participants Needed!
Are you ready to be a medical hero? A new clinical trial with an oral investigational drug intended to reduce phototoxicity in people living with EPP has begun. Don’t delay – contact the APF to learn more at 1-866-APF-3635 or porphyrus@porphyriafoundation.org

"Remember...Research is the key to YOUR cure!"
Each Step Toward Finding an Effective Treatment is Important!

Safe/Unsafe Drug Questionnaire for the Acute Porphyrias (AIP,VP,HCP & ADP
The APF is collaborating with researchers to identify new safe and unsafe drugs. We need your help. Are you experiencing adverse effects with any of your new medications? If so, please let us know in the questionnaire below how it affected you. We will share these results with our team of renowned Porphyria experts/researchers. They are in the process of updating our safe and unsafe drug list for the acute porphyrias. Your donations will help us educate physicians about the dangerous effects of unsafe drugs. Please click on the link below for the Questionnaire.

Safe and Unsafe Drug Questionnaire
Patient Education and Support Meeting

LOCATION
Cincinnati Children's Hospital | 3333 Burnett Ave. | 2nd Floor, Section D | Cincinnati, OH 45229
DATE AND TIME
09/29/18 11:00am - 09/29/18 2:00pm
This meeting will be hosted by Audrey Schering and Brandy Nicole Smith. Please let us know if you will be in attendance!


Get Involved

Contact Information

Is your contact information up to date?
If not please give us a call @ 866-APF-3635 or Email to porphyrus@porphyriafoundation.com


American Porphyria Foundation| 1.866.APF.3635 | porphyriafoundation.org

STAY CONNECTED

"Remember....Research is the Key to Your Cure!"

Thursday, August 9, 2018

Porphyria Post

Porphyria Post

The APF is fighting hard for Scenesse to be granted Priority Review status at the FDA. This is the fastest possible review process for a new treatment through the FDA. Scenesse has proven to be an effective treatment with nearly 6,700 worldwide SAFE doses implanted for the treatment of EPP. There IS no current FDA-approved treatment available for this extremely painful phototoxic disease.
As a TEAM we are much more effective.
Please use this Facebook frame to show your support for our cause and to help gain attention to the much needed Priority Review and approval of the EPP treatment Scenesse!

Here is the link to the camera effect.
www.facebook.com/fbcameraeffects/tryit/927609194092504/

Harvoni Study - PCT

Do you have PCT? Are you interested in participating in research? Do you have Hepatitis C? If you answered YES to these questions, this is for you.
We need YOU for a clinical trial!
The purpose of this clinical trial is to assess whether Harvoni alone is an effective therapy in active PCT patients with Chronic Hepatitis C.
Who can participate?
Adult patients with PCT who also have Hepatitis C
If you are interested in participating please contact Edrin Williams, Director of Patient Services at the APF office at 301.347.7166 for additional information.

EPP Clinical Trials – Participants Needed!
Please contact the APF on 866-APF-3635 to request information on these new clinical trials. There are six study sites across the US that need your participation. Do you want a new treatment for EPP? – then come be part of the solution.
There are 4 Sites that are currently accepting patients:
Mount Sinai - New York City, NY
Wake Forest Baptist - Winston Salem, NC
University of Miami - Miami, FL
University of Texas Medical Branch - Galveston, TX
Sites to open soon:
University of California San Francisco - San Francisco, CA
University of Utah - Salt Lake City, UT
We need your participation! Contact us today!
Remember…Research is the Key to Your Cure!! Every step along the way is important.

Light the Moment 2018
The Stuhlsatz Family was the recipient of Light the Moment 2018. We are excited to share with you that they are headed to Disney World this week! The Shadow Jumpers team worked very hard to make sure that they have an experience of a lifetime. Stay tuned for more once they return from this exciting trip.

Safe/Unsafe Drug Questionnaire for the Acute Porphyrias (AIP,VP,HCP & ADP)
The APF is collaborating with researchers to identify new safe and unsafe drugs. We need your help. Are you experiencing adverse effects with any of your new medications? If so, please let us know in the questionnaire below how it affected you. We will share these results with our team of renowned Porphyria experts/researchers. They are in the process of updating our safe and unsafe drug list for the acute porphyrias. Your donations will help us educate physicians about the dangerous effects of unsafe drugs. Please click on the link below for the Questionnaire.

Wednesday, August 8, 2018

Pub MD specials on each type of Porphyria Click on the link



1.
Frusciante V, Ferrari C, Totaro M, Valle G, Guida CC, Aucella F, Caputo P, Rubini G.
Hell J Nucl Med. 2018 Jan-Apr;21(1):43-47.
PMID:
 
29705816
 
Free Article
2.
Succi IB, Pôrto LC, Domingues PMGDRP, Fonseca JCM.
An Bras Dermatol. 2018 Jan-Feb;93(1):148-150. doi: 10.1590/abd1806-4841.20186666.
PMID:
 
29641722
 
Free PMC Article
3.
Takata K, Shakado S, Sakamoto K, Fukuda H, Yamauchi R, Fukuda S, Kunimoto H, Umeda K, Tanaka T, Yokoyama K, Morihara D, Takeyama Y, Irie M, Sakisaka S.
Clin J Gastroenterol. 2017 Oct;10(5):459-463. doi: 10.1007/s12328-017-0772-x. Epub 2017 Sep 7.
PMID:
 
28884440
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Bissell DM, Anderson KE, Bonkovsky HL.
N Engl J Med. 2017 Aug 31;377(9):862-872. doi: 10.1056/NEJMra1608634. Review. No abstract available.
PMID:
 
28854095
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6.
Callen JP.
Am J Med Sci. 2017 Jul;354(1):5-6. doi: 10.1016/j.amjms.2017.06.009. No abstract available.
PMID:
 
28755733
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Baravelli CM, Sandberg S, Aarsand AK, Nilsen RM, Tollånes MC.
J Intern Med. 2017 Sep;282(3):229-240. doi: 10.1111/joim.12646. Epub 2017 Jul 20.
PMID:
 
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Olivier P, Van Melkebeke D, Honoré PJ, Defreyne L, Hemelsoet D.
Eur J Neurol. 2017 Sep;24(9):1183-1187. doi: 10.1111/ene.13347. Epub 2017 Jul 10.
PMID:
 
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Gomez-Gomez A, Marcos J, Aguilera P, To-Figueras J, Pozo OJ.
J Chromatogr B Analyt Technol Biomed Life Sci. 2017 Aug 15;1060:347-354. doi: 10.1016/j.jchromb.2017.06.030. Epub 2017 Jun 19.
PMID:
 
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Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ; Porphyrias Consortium of the Rare Diseases Clinical Research Network.
Hepatology. 2017 Oct;66(4):1314-1322. doi: 10.1002/hep.29313. Epub 2017 Sep 4. Review.
PMID:
 
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Babar MU, Hakeem H, Khan S.
BMJ Case Rep. 2017 Mar 27;2017. pii: bcr2016219105. doi: 10.1136/bcr-2016-219105.
PMID:
 
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Blouin JM, Bernardo-Seisdedos G, Sasso E, Esteve J, Ged C, Lalanne M, Sanz-Parra A, Urquiza P, de Verneuil H, Millet O, Richard E.
Hum Mol Genet. 2017 Apr 15;26(8):1565-1576. doi: 10.1093/hmg/ddx067.
PMID:
 
28334762
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Howard M, Hall A, Ramsay D.
Dermatol Online J. 2017 Feb 15;23(2). pii: 13030/qt10n7k90g. Review.
PMID:
 
28329491
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Handler NS, Handler MZ, Stephany MP, Handler GA, Schwartz RA.
Int J Dermatol. 2017 Jun;56(6):e106-e117. doi: 10.1111/ijd.13580. Epub 2017 Mar 21. Review.
PMID:
 
28321838
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Takata T, Kume K, Kokudo Y, Ikeda K, Kamada M, Touge T, Deguchi K, Masaki T.
Intern Med. 2017;56(6):713-717. doi: 10.2169/internalmedicine.56.7654. Epub 2017 Mar 17.
PMID:
 
28321076
 
Free PMC Article
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Abdelmaksoud A.
Dermatol Ther. 2017 May;30(3). doi: 10.1111/dth.12466. Epub 2017 Jan 30. No abstract available.
PMID:
 
28133909
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Nishiyama M, Sakamoto K, Shinagawa Y, Morita A, Urakawa H, Fujimitsu R, Shakado H, Hamada Y, Yoshimitsu K.
Abdom Radiol (NY). 2017 Jul;42(7):1813-1818. doi: 10.1007/s00261-017-1056-0.
PMID:
 
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Manceau H, Gouya L, Puy H.
Curr Opin Hematol. 2017 May;24(3):198-207. doi: 10.1097/MOH.0000000000000330. Review.
PMID:
 
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The Porphyria story of Victor LaFae with HCP

Porphyria story - HCP - Victor LaFae I’m told that I was a typical happy baby for the first few months of my life. I reached all my mile...