Thursday, October 27, 2016

Clinuvel Information

CLINUVEL PHARMACEUTICALS LTD [ASX: CUV; Nasdaq International Designation ADR: CLVLY; Xetra-DAX: UR9] today announced that it will meet with the US Food and Drug Administration (FDA) on 7 November to formally discuss lodging its new drug application (NDA) for the novel drug SCENESSE® (afamelanotide 16mg). The pre-NDA meeting will focus on finalising requirements for filing SCENESSE® with the FDA for the treatment of adult patients with the rare genetic disorder erythropoietic protoporphyria (EPP). 

“This is the last step required of CLINUVEL before we ask the FDA to review the risk-benefit profile of SCENESSE
® in a submitted dossier,” CLINUVEL’s Acting Chief Scientific Officer, Dr Dennis Wright said. “A successful risk-benefit review will enable CLINUVEL to make the drug available to US EPP patients.”

The pre-NDA meeting, with the FDA’s Division of Dermatology and Dental Products (DDDP), is part of ongoing dialogue between CLINUVEL and the FDA since CLINUVEL commenced a clinical program for EPP in 2006. 

Earlier this year the FDA granted SCENESSE
® Fast Track designation, enabling – among other benefits – a rolling review of the NDA dossier. The FDA also completed an initial review of CLINUVEL’s clinical data package, deeming it satisfactory and sufficient for NDA submission. On 24 October the DDDP will host an EPP Workshop to obtain the patients’ and physicians’ perspective on certain disease areas, including the effectiveness of treatments.

® is the first treatment ever evaluated in contemporary clinical trials for EPP. The drug provides photoprotection to EPP patients who suffer from acute reactions to visible light and sun (phototoxicity). In 2014 SCENESSE® was approved in Europe for the prevention of phototoxicity in adult EPP patients, with the drug now prescribed in a number of European countries.
“It has always been our goal to make the drug available to US EPP patients, and it has become more pressing now that the drug is available in Europe,” CLINUVEL’s Global Director, Regulatory Affairs, Ms Nicoletta Muner said. “In recent months our dialogue with the FDA has intensified as the agency sought to learn more about our program and as the product is being distributed internationally. We look forward to the next steps in the review of SCENESSE

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

Friday, October 21, 2016

Accused of Being a Hypochondriac, Lisa is Finally Diagnosed with Acute Intermittent Porphyria- Global Genes

Accused of Being a Hypochondriac, Lisa is Finally Diagnosed with Acute Intermittent Porphyria

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A swollen stomach made her look pregnant, but the pain — “burning,” “shocking,” “horrible,” “out-of-this world,” as she describes it — was worse than childbirth, leaving her doubled over and gasping for breath. Symptoms came and went, seemingly at random. Vomiting. Constipation. High blood pressure. A racing pulse. Numbness in her hands. Paralysis in her right foot.
Lisa Kehrberg spent several days in a hospital, but every test came back normal. And the doctors began to wonder if perhaps she had been under a lot of stress lately.
As a physician herself — a specialist in pain management, as a matter of fact — Kehrberg knew how to translate that question: “There’s really nothing wrong with you.”
“Actually, no,” she told the doctors. She hadn’t been under stress. “I’m really sick right now. Can you help me?”
“You need to calm down,” one health-care worker told her. “Go home. Take it easy. And pull yourself together.”
Kehrberg had been sick before. The first bout came 22 years ago, when she was going to high school in Bartlesville. Another one hit during college, when she was briefly hospitalized with abdominal pain. But it wasn’t until September 2013, while she was working as a doctor for U.S. Department of Veterans Affairs in Chicago, that Kehrberg finally demanded answers.
Released from one Chicago hospital without a diagnosis, she checked into another one. Did the doctors there think she was a hypochondriac?
“Yeah, I’m sure they did,” she said. “Doctors are too quick to give up. ‘It’s stress.’ ‘It’s your imagination.’ ‘It’s not as bad as you’re saying it is.’ They don’t want to believe that there’s something wrong with you if they don’t know what it is.”
The second hospital did all the usual tests, with the same results. “Normal.” Why not try something different?
“It’s almost a cultural thing for doctors,” she said. “It’s looked down upon to start testing for rare diseases. Nobody wants to look like they’re grasping for answers. ‘It can’t be that, so it must be your imagination.’”
Kehrberg remained undiagnosed until a hospital nurse noticed that her urine had turned dark brown, a classic symptom of a rare genetic disorder called Acute Intermittent Porphyria, by some estimates afflicting less than 0.0001 percent of the population.
Kehrberg had heard of it herself but never considered the possibility. While not curable, the disease can be controlled to some extent by diet and medication.
More than a year later, Kehrberg now speaks as an advocate for people with Porphyria and other rare conditions. And she came back to Oklahoma recently for a fundraiser at her parents’ ranch near Pawhuska.
Her message to patients: “Speak up. Trust your instincts. Demand answers.”
And to physicians: “Listen to people and believe what they are telling you. There aren’t a lot of hypochondriacs walking around out there. There are a lot of sick people who need help.”

SOURCE Article by Michael Overall.

Wednesday, October 19, 2016

Important Things To Know Before The FDA Meeting For EPP On MONDAY

Important Things To Know Before The FDA Meeting For EPP On MONDAY

The FDA Meeting for EPP is just around the corner! The FDA has distributed additional information for all registered attendees. The check in process is lengthy, so everyone needs to be sure to arrive to the FDA at 9AM on Monday, October 24th. As a reminder, the APF will have a shuttle bus available to transport attendees between the Holiday Inn – College Park and the FDA.
Transportation: If you are taking a cab, ask the driver to drop you off at Building 1. If you will be driving and need to park, there will be signs labeled “Event Parking” pointing you in the direction of various surface parking lots (Southeast, 132A and 132B). Parking spots may be difficult to secure that will be close to Building 1, but there will be shuttles circulating to all parking lot bus stops every 5 minutes that can pick you up. Make sure to tell the shuttle driver to drop you off at Building 1. Here is FDA’s transportation page for more information:…/WhiteOakCampusInformation/ucm241740.htm
Arriving: Please make sure to first arrive at Building 1 in order to clear security and enter FDA as a guest. Building 1 is the first building you see when you arrive on campus, behind the circle with flags. You will need to present a government issued ID. Once in Building 1, visitors will have to go through the x-ray and magnetometer machines and then go down a corridor to the Building 31 Great Room. The meeting will be taking place here in the “Great Room,” or Rooms 1503 B and C. There is a small portion of the path between Building 1 and 31 where visitors will be outside. There are stairs and a ramp between the buildings. We will have FDA staff helping direct visitors to the meeting room.
Registration: Please plan to arrive between 9:00-9:45am. We will have sign-in sheets available on the tables inside the room. Luggage can be kept in the meeting room, either with the individual or in the back of the room. Sara and Meghana will both be in the room to help you with anything else you might need. If you have any difficulties finding the meeting room, or if there are any immediate questions you may need to ask, Meghana’s cell phone number is 772-342-1816, and Sara’s is 412-606-9445.
Lunch: There is a kiosk in the foyer of the meeting room where food and beverages are available for purchase. You can pre-order your lunch in the morning before the start of the workshop; if you choose to pre-order, your lunch will be available for pick-up inside the meeting room itself (where we are planning to keep the lights dimmed) during the lunch break.
Example of Past Meetings: We have conducted meetings similar to this one in the past. Please find a link to a similar meeting we held for psoriasis here:…/…/PrescriptionDrugUserFee/ucm470608.htm. Here you will find the webcast recording and full transcript of the meeting.
Agenda: The workshop agenda is now available on the workshop webpage:
The patient panel will kick off the discussion in the morning, and will be followed by a large-facilitated discussion with patients and caregivers from the audience. So we encourage you to share your experience during the large-facilitated discussion portion of the workshop. The workshop is in-tended to be an opportunity for FDA to hear directly from patients, and we make every effort to make sure the voice of the patient is heard.
We also encourage you to submit your comments directly to our “public docket”. This is a website through which patients living with EPP and oth-ers can share their experiences and perspectives. These comments supple-ment the input we get from the workshop. We will review all of these com-ments. To submit your comment, visit: Click on the “Comment Now” button in the top-right corner. You will be able to upload a PDF or Word version of your comments.
If you have any questions, you can contact the FDA at We are all looking forward to this workshop!

Monday, October 17, 2016

The FDA Meeting for EPP is Less Than 3 Weeks Away!

The FDA Meeting for EPP is Less Than 3 Weeks Away!
The APF is busy preparing for the upcoming EPP meeting at the FDA on October 24th, 2016.  We are very excited about the large number of attendees and hope even more people RSVP to us in the coming weeks.
When registering for the FDA meeting, there is an option to indicate if you are interested in participating in a panel.  If you have signed up to participate in the panel during the meeting, you should have received an email with a list of discussion questions from Meghana Chalasani (FDA meeting coordinator), in addition to your registration confirmation email.  These questions must be answered and returned to Ms. Chalasani.

The deadline to submit your answers for the panel has expired.

You will be notified of your panel status at least 1 week in advance of the meeting.  If you have signed up to speak at the panel, but did not receive the follow up email from Ms. Chalasani, then you are not being considered for the panel.  You must contact Ms. Chalasani to receive the questions.

**PLEASE let the APF know if you are selected for the panel.  If you are still unsure whether or not you can attend this important meeting, feel free to contact with any questions/comments you have.  We are excited to meet everyone in a few short weeks!

As a reminder, the deadline to register for the FDA Meeting in person OR via webcast is Monday, October 17th, 2016!  
If you are not registered, you cannot attend the meeting, so be sure to register ASAP!  Visit this website for registration:

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

Friday, October 14, 2016

Taking Notes and Recording Your Visit

Taking Notes and Recording Your Visit~

Have you ever felt overwhelmed during a Doctor's appointment in which you received a large amount of information?  I know I have.  Perhaps you didn't ask any questions at the time even though you felt you had questions once you had time to process all of the details. 

     Your not alone.  Many patients find themselves with many unanswered questions once they have a chance to look over the printed materials and digest the information.

These tips may help you feel more informed during your next visit:

  • Write down a list of specific questions.

  • Bring someone to the appointment with you to listen, take notes, and record the visit.

  • Verbally summarize the instructions for the doctor or the nurse

  • Ask pointed questions such as: "can you please review with me again what I need to know about getting Porphyria testing done right?"

Many health care providers are using a technique called "Teach-Back" to ensure you understand what they just explained.  They may ask you open ended questions rather than just expecting a yes or a no response.  This is an opportunity for you to recap what you just heard which helps to reinforce the information.

                   Have fun trying this new technique at your next Doctor's appointment! 

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

Wednesday, October 12, 2016

Your Stories

YOUR STORIES- Are you a porphyria survivor or know someone with an inspiring story to tell? How has porphyria affected you or your loved ones?
Whether it's a story, a poem, a picture, fundraising event, a picture or a painting, share YOUR story in your way.
Your story will be made available in a published blog and the upcoming 2017 Porphyria Awareness Week. Please email me your type & name with what you want to share

Wednesday, October 5, 2016

A journey to successful protection with Scenesse. #SuccessWithScenesse

A journey to successful protection with Scenesse.
Our son, JT von Seggern has Erythropoietic Protoporphyria, EPP. EPP negatively effects the liver, results in vitamin D deficiencies and causes excruciating pain – all from exposure to the sun. JT has experienced the painful effects of EPP since he was 2 years old. It took us 9 years of extensive research and numerous doctors’ visits, including a trip to Johns Hopkins to finally get a diagnosis for what was causing our child so much pain. While gaining a diagnosis was a huge relief, learning that there were no treatments and no cure for EPP quickly knocked the air out of our initial relief. Exactly how does one go about protecting their now 11 year old, sports loving son, from exposure to the sun?
Through the ensuing years, JT experienced frequent pain, swelling, scarring, missed school days, and numerous rounds of Prednisone to bring down the swelling caused from exposure to the sun. Flash forward to the spring, 2015. The years of dealing with EPP and the understandable anxiety that accompanies such a cruel disease started to really take a toll on JT. By the time we picked him up from college at the end of the spring semester, it was agonizingly apparent that this cycle could not continue.
In May, 2015, we asked Dr. Silverman, the doctor treating JT if there were any new developments in treating EPP. There were none in the U.S. but Dr. Silverman mentioned a promising drug containing afamelanotide. I indicated that I wanted JT on that drug and while Dr. Silverman was sympathetic to JT’s plight, he informed us that it would be next to impossible to get access to the drug for JT.
At that point, the mama bear in me went into full fight mode to protect. Through a miraculous array of previous untraveled avenues, a happenstance meeting in New York, calls to Australia, Italy the U.K. and finally a contact in Zurich.
12, 670 miles traveled
2 cab rides
2 Trams
1 hotel
1 hospital
1 implant
2-3 months of vital protection
JT received his first implant of Scenesse in Zurich, Switzerland on August 11, 2015.
The protection that JT received from this first implant of Scenesse was nothing short of miraculous and life changing. A whole new world has opened up for JT. He only missed one day of classes due to over exposure, his grades went up across the board, and he gained back his confidence and left anxiety in the dust of his shadow.
…a shadow that was made possible by the successful protection from Scenesse.
The journey to successful protection with Scenesse is not an easy one, but it is the only option available until the FDA accelerates approval for afamelanotide 16 mg.
As we pulled up to Dulles Airport for JT’s second
implant scheduled for January 12, 2016, a
beautiful rainbow greeted us and we knew we
continued to be on the right path.
JT was all smiles as we awaited our flight to Zurich
We arrived in Zurich at 7:55 am on Monday the 11th.
JT rested up and prepared himself mentally for the procedure.
The hospital is just up the hill from the Tram station and off we trekked to Pavillion F in the hospital where the implant would take place. We were MUCH better at navigating this adventure since we had done this during our first trip in August.
Tuesday morning we arose early, ate and walked a few blocks to the closest Tram station and took the #14 to Triemli Hospital
After we arrived at the
designated spot, we
waited for JT to be called
into the procedure room.
The numbing patch that Dr. Minder had given me in August to apply to JT’s side did not totally numb him so after cleaning his side with iodine, Dr. Minder gave him an injection to thoroughly numb the area.
JT was called into the procedure area where we met with Dr. Minder and her assistant. Dr. Minder went over the procedure and then she prepped JT for the implant.
Next up, the actual implant! After it was all done and JT was bandaged up, JT rested for a bit just to make sure he was fine to make the trek back to the hotel.
Knowing Scenesse was in his body and would soon be protecting him from the sun made even this rainy Tuesday one full of hope and promise. Singing in the rain was not out of the question! 
We walked back to the #14 Tram for the 20-minute ride back to the stop near our hotel.
JT rested the rest of the day.
Dr. Minder, Rocco Falchetto and Jasmin Barman joined us for a send off dinner. Both Rocco Falchetto and Jasmin Barman are EPP patients as well and being successfully treated with Scenesse.
After a good nights rest, we left our hotel and boarded our flight back to Virginia.
12, 670 miles traveled
2 cab rides
2 Trams
1 hotel
1 hospital
1 implant
2-3 months of vital protection
12, 670 miles traveled
2 cab rides
2 Trams
1 hotel
1 hospital
1 implant
2-3 months of vital protection
JT’s confidence knowing he is protected from pain for another 2 months shows on his face!
My question is, why? Why must we as American citizens go to such lengths to provide successful, safe protection from the sun? Accelerated approval for Scenesee (afamelanotide 16mg) is needed NOW. No EPP patient should be needlessly suffering.
FDA, Approve Scenesse
All this will be repeated again on March 8 for JT’s 3rd implant of Scenesse.
The lengths to which one will go through to protect their child are incredible.
And no EPP patient should have to endure all of this to live a pain free, healthy life.

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...