This blog is dedicated to all the Porphyria patients worldwide.
The American Porphyria Foundation will provide updates and information here, as well as on the main site - http://porphyriafoundation.org
Now is the time to join the many other people who are helping porphyria researchers find new treatments leading to a cure.
In most research studies, you will not be asked to take an experimental drug, rather, you will be asked to contribute your blood , DNA and/or urine and answer pertinent questions.
Please see the list and parameters below and contact Desiree at the APF if you are interested or have questions. You will be placed in direct contact with the research team:
To be eligible for the Longitudinal Study of the Porphyrias:
Must have a confirmed diagnosis of one of the porphyria
It is preferable if patients are able to come to a participating center to be clinically evaluated (through insurance if possible)
If patients cannot come to a center they can be seen by a local physician and have their records sent to a participating center along with the necessary samples (DNA, porphyria labs, etc)
To participate in the following studies the patient MUST already be in the Longitudinal Study:
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Mitoferrin-1 Expression in Patients with Erythropoietic Protoporphyria
Quantification of the Effects of Isoniazid Treatment in Erythrocyte and Plasma Protoporphyrin IX Concentration and Plasma Aminolevulinic Acid in Patients with Erythropoietic Protoporphyria
To participate in Clinical Diagnosis of Acute Porphyrias, there are two parts:
Part 1 is looking for 1st degree relatives of patients with confirmed DNA diagnoses of the acute porphyrias (the patients who are subsequently diagnosed with an acute porphyria through this study are then eligible to participate in the Longitudinal Study)-We are only recruiting for this part right now
Part 2 is looking for patients with mild elevations in urine porphyrins and symptoms consistent with acute porphyria but who do not have a confirmed diagnosis yet (again, patients who are subsequently diagnosed with an acute porphyria through this study are then eligible to participate in the Longitudinal Study)
**For this study, patients do not need to visit a participating center but it is preferred that they do.
To participate in Hydroxychloroquine vs. phlebotomy for porphyria cutanea tarda :
Patients must have a biochemically confirmed diagnosis of PCT, these patients are also eligible to be in the Longitudinal Study however it is not required that they be in the Longitudinal Study to be in this study
They must also be over 18 years of age and willing to take precautions to prevent pregnancy
For this study the patients need to visit a participating center
Q & A WITH PORPHYRIA EXPERT, DR. BRUCE
WANG, UCSF The APF asked our Facebook friends for their top questions they
would ask a porphyria expert.
The following questions were submitted
to Dr. Wang for his responses ...
Q. Does EPP give us bad teeth? Also, do people with EPP
get stomach pains or is that with the other porphyias?
A. The porphyrin that accumulates in EPP patients is protoporphyrin
IX, which does not cause discoloration to teeth or abdominal pain.
The type of porphyria that leads to discolored teeth is Congenital
Erythropoietic Protoporphyria. The porphyrias that lead to episodic
abdominal pain attacks are the acute hepatic porphyrias.
Q. I have EPP and I have a severe reaction on my hands
and lips. Do I seek urgent care? Also, what can you even do
when you burn your lips?
A. The acute reactions to sunlight in EPP can be very severe and,
unfortunately, there are not many effective options to treat the
symptoms. Nonsteroidal anti-inflammatory drugs (NSAIDS such as