Monday, June 25, 2018

SUPPORT OUR VERY OWN SPARTAN!

SUPPORT OUR VERY OWN SPARTAN!
Watch out, Boise Spartan Race, here comes Jared Ulmer! A self-described family man and health enthusiast, Jared also lives with Erythropoietic Protoporphyria (EPP) - a rare diseases that results in extreme pain with exposure to sunlight. You may know Jared from his YouTube channel, PorphyriaJ where he creates awareness about this rare disease and illustrates living with it in his own unique way through honest and entertaining short videos. (Porphyria J)

This Saturday JUNE 23rd at 8:45AM MST, Jared will take on the SPARTAN SPRINT! Jared will run 3+ miles and overcome 23 daunting obstacles in the Boise Spartan Sprint on behalf of Porphyrians everywhere. The Spartan race motivates people to get out of their comfort zones and grow through resiliency. In order for Jared to complete this race - he will test every ounce of his resilience. For Jared, this race is an outward expression of a deep internal struggle that has developed through a lifelong challenge of avoiding sun exposure. He wants all who suffer from this disease - which has no FDA-approved treatment and no cure - to know they are not alone and to believe that positivity is created by taking care of yourself and focusing on what you can do. You will hear Jared say 'Seek Shade and Stay Happy' - a motto he lives by and shares with all who suffer along with him.

Jared will race on behalf of the AMERICAN PORPHYRIA FOUNDATION. Donations to the American Porphyria Foundation can be made through FirstGiving. Please help Jared reach his goal of raising $1,000. The APF enhances public awareness, develops education programs and materials, and supports research to improve treatment and ultimately a cure for Porphyria. Jared still has his original APF pamphlet and free materials he and his parents first received due to donations like yours. These free materials are what educated Jared on how to handle EPP, and that let him know he wasn't alone. PLEASE SUPPORT JARED AND ALL WHO LIVE WITH EPP ON JUNE 23RD BY DONATING TO THE APF!

Friday, June 22, 2018

GET INVOLVED STUDIES 7207 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact)



Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact)


In order to participate in a study, you must personally contact the
APF Edrin 1-866-APF-3635

Status: Recruiting

Background

The Erythropoietic Protoporphyrias include EPP and XLP. (Together they are the third most common porphyria and the most common in children.
The purpose of this study is to learn more about EPP and XLP and how to better treat people with them.
Researchers will observe participants over several years to learn about:
  1. How often certain signs that indicate how bad the disease is occur as they are related to skin symptoms. For example, levels of protoporphyrins effects on the liver and other tissues affected by erythropoietic protoporphyrias.
  2. What are the psychosocial effects of living with EPP/XLP.
This is a longitudinal study (study taking place over 5 years) of about 150 individuals with EPP. Participants enrolled in this study should also be enrolled in the Longitudinal Study of the Porphyrias. Those participating in this study will be evaluated yearly. If possible, the first study visit should happen at one of the Porphyrias Consortium clinical sites (see the list of participating sites below).
Participation in this study will involve the following:
  1. Accessing the information that you provided for the “Longitudinal Study of the Porphyrias”, including the results of the physical examinations, medical history, family history, questionnaires, and the results of laboratory tests;
  2. Review of your medical records at each study visit; the study doctor may request medical records in between study visits to see how you are doing or if there is a medical concern that may be related to your porphyria or to the study;
  3. Collection of samples, including:
    • blood (about 2-4 tablespoons)
    • urine (about ¼ cup) for testing and storage.
  4. Completion of quality of life questionnaires
Testing on these samples may include measurement of certain products found in the blood and urine of people with porphyria and DNA analysis to find the mutation (or change) in the porphyria gene that is causing your porphyria. These samples will be collected at your first study visit, however, we may ask for additional samples later.

Targeted Enrollment

To be eligible to participate, you must:
You are not eligible to participate if you have:
  • You have elevations of porphyrins in urine, plasma or erythrocytes due to other diseases (i.e. secondary porphyrinuria or porphyrinemia), such as liver and bone marrow diseases.
  • A prior diagnosis of porphyria that cannot be documented by review of existing medical records or repeat biochemical or DNA testing.

Thursday, June 21, 2018

Porphyria Post

Porphyria Post

New EPP Clinical Trials
Clinical Trial for EPP!

Participants are needed for participation in a Phase II clinical trial to study an investigational drug for EPP. CONTACT THE APF ON 1-866-APF-3635 or email porphyrus@porphyria.com to learn more.

An oral investigational drug has been developed with the potential to increase sunlight duration and tolerance in
individuals with EPP. This phase II clinical trial is needed to understand if the investigational drug works and to
ensure that it is safe. The study duration is 24 weeks including follow-up. You must be age 18-70 to participate and have a confirmed diagnosis of EPP. All travel is included and will be arranged by a concierge service.

Contact the APF today – trial spaces will fill quickly! 1-866-APF-3635.

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

SUPPORT OUR VERY OWN SPARTAN!
Watch out, Boise Spartan Race, here comes Jared Ulmer! A self-described family man and health enthusiast, Jared also lives with Erythropoietic Protoporphyria (EPP) - a rare diseases that results in extreme pain with exposure to sunlight. You may know Jared from his YouTube channel, PorphyriaJ where he creates awareness about this rare disease and illustrates living with it in his own unique way through honest and entertaining short videos. (Porphyria J)

This Saturday JUNE 23rd at 8:45AM MST, Jared will take on the SPARTAN SPRINT! Jared will run 3+ miles and overcome 23 daunting obstacles in the Boise Spartan Sprint on behalf of Porphyrians everywhere. The Spartan race motivates people to get out of their comfort zones and grow through resiliency. In order for Jared to complete this race - he will test every ounce of his resilience. For Jared, this race is an outward expression of a deep internal struggle that has developed through a lifelong challenge of avoiding sun exposure. He wants all who suffer from this disease - which has no FDA-approved treatment and no cure - to know they are not alone and to believe that positivity is created by taking care of yourself and focusing on what you can do. You will hear Jared say 'Seek Shade and Stay Happy' - a motto he lives by and shares with all who suffer along with him.

Jared will race on behalf of the AMERICAN PORPHYRIA FOUNDATION. Donations to the American Porphyria Foundation can be made through FirstGiving. Please help Jared reach his goal of raising $1,000. The APF enhances public awareness, develops education programs and materials, and supports research to improve treatment and ultimately a cure for Porphyria. Jared still has his original APF pamphlet and free materials he and his parents first received due to donations like yours. These free materials are what educated Jared on how to handle EPP, and that let him know he wasn't alone. PLEASE SUPPORT JARED AND ALL WHO LIVE WITH EPP ON JUNE 23RD BY DONATING TO THE APF!

Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks:
A Disease with Intermittent and Chronic Manifestations

A new article was published recently about the patient perspective on Acute Intermittent Porphyria with frequent attacks. Click below to view the entire publication.


The Patient - Patient-Centered Outcomes Research
https://doi.org/10.1007/s40271-018-0319-3

Givosiran Trials Deadline
The life changing Givosiran research trials will be closing for more acute porphyria patients on Friday, June 29.

YOU have the opportunity to become a patient volunteer. As such, you will receive FREE DRUG for TWO YEARS. Your travel expenses will be paid, including flights, train, car, meals, hotel and a travel stipend.

We cannot improve treatment or have a cure unless YOU , the patient, volunteer FOR THE RESEARCH. If you have an acute porphyria, please be a medical hero and join the trials in the cities below. You will be with a porphyria expert and a research team. Please call Edrin at the APF Office on 301.347.7166. or our toll free number 866 APF 3635.

Rare Disease Legislative Advocates is hosting In-District Lobby Days to facilitate meetings for rare disease advocates across the country with members of Congress in their local offices during the 2018 summer in-district work period (July 31st through Sept. 4th). 

Meeting with your representative and senators throughout the year is critical to building key relationships. These meetings also provide an opportunity to discuss legislation that is meaningful to the rare disease community, and to highlight the importance of the Rare Disease Congressional Caucus. Make YOUR voice heard as you advocate on behalf of the rare disease community!

Registration for In-District Lobby Days is FREE and open through July 4th. You will be provided the option to specify you availability and the distance you are willing to travel for a meeting.

All In-District Lobby Day participants will be invited to a webinar on Thursday, July 26th,at 2pm EST to go over key legislative issues and tips for successful meetings. Legislative asks will be available RDLA's website by late July.

Update your records....

We have moved.

The American Porphyria Foundation is excited to announce out move to Bethesda, Maryland - next door to our nation's capital. Please update your records with our new address.

American Porphyria Foundatin
4915 St. Elmo Ave., Suite 105
Bethesda, MD 20814
Telephone: 301.347.7166
Get Involved

                     porphyriafoundation.org




Contact Information

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

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

STAY CONNECTED

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






Clinical Trial for EPP! Participants are needed for participation in a Phase II clinical trial to study an investigational drug for EPP




Drug for EPP. CONTACT THE APF ON 1-866-APF-3635 or email porphyus@porphyriafoundation.org to learn
more.

An oral investigational drug has been developed with the potential to increase sunlight duration and tolerance in
individuals with EPP. This phase II clinical trial is needed to understand if the investigational drug works and to
ensure that it is safe. The study duration is 24 weeks including follow-up.

 You must be age 18-70 to participate
and have a confirmed diagnosis of EPP. All travel is included and will be arranged by a concierge service.

Contact the APF today – trial spaces will fill quickly! 1-866-APF-3635.

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

Each Step Toward Finding an Effective Treatment is Important!





Wednesday, June 20, 2018

7206 GET INVOLVED STUDIES 7206 Therapeutic Studies in Porphyria Cutanea Tarda

Therapeutic Studies in Porphyria Cutanea Tarda

In order to participate in a study, you must personally
 contact EDRIN @ APF 1/866/APF/3635

Status: Recruiting

Background

Porphyria Cutanea Tarda (PCT) is the most common porphyria that is generally diagnosed in adulthood. It is also the most responsive type of porphyria to treat. There are two current treatments for PCT. The first and more common treatment is repeated phlebotomies (removing blood, but that also includes the potential disadvantages of discomfort, inconvenience and expense. The second options is a low-dose treatment with medications that are normally used to treat malaria-- hydroxychloroquine or chloroquine. This treatment maybe more convenient and cost-effective but it is not option prescribed as primary treatment. This study compares these two treatments.
The research questions are:
  1. Is a low-dose regimen of hydroxychloroquine effective as phlebotomies for PCT treatment?
  2. Are people treated with low-dose hydroxychloroquine more likely to have relapses of their PCT?
This study compares two treatments for PCT. The first phase of the study is when patients get the treatment, either phlebotomies or hydroxychloroquine. During this phase study visits are every 2-4 weeks. After the treatment phase when participants have reached remission participants will meet with their doctor every 3-6 months, for 3 years to see if any symptoms return. The procedures done at these visits include physical exams, standard lab work such as checking iron levels, and lab work to look for porphyrin levels in the blood and urine.
A total of 100 patients with well-documented PCT will be enrolled in this study.
For each visit, you will be asked to:
  • Keep a log of your study medication if you are treated with hydroxychloroquine
  • Fill out a questionnaire about your PCT symptoms
  • Give a blood sample
    • 1 to 2 teaspoons if you are treated by hydroxychloroquine
    • 1 unit (450 ml, which is approximately 1 pint) of blood at regular intervals if you are treated with phlebotomy.
  • Give a urine sample
  • Have your local doctor’s office send us medical records and lab results

Targeted Enrollment

To be eligible to participate, you must:
  • Be at least 18 years old
  • Have well-documented PCT
  • Be able to provide consent to participate after you are informed about what the study includes
  • Be willing to avoid becoming pregnant during treatment; if you are a woman capable of becoming pregnant, you must use an effective contraceptive method
You are not eligible to participate if you have:
  • Your skin problem is not due to PCT, or is due to another type of porphyria
  • You are pregnant or if you plan to become pregnant during treatment
  • You have had prior treatment by phlebotomy, hydroxychloroquine or chloroquine within one month of starting this study. The exception to this is if you have  specific medical records and lab results from before and during the treatment
  • You are unwilling or unable to comply with study procedures and visit schedule
  • You have participated in this study before

SUPPORT OUR VERY OWN SPARTAN!

SUPPORT OUR VERY OWN SPARTAN! Watch out, Boise Spartan Race, here comes Jared Ulmer! A self-described family man and health e...