Canadian Association for Porphyria

Our Mission

The mission of the Canadian Association for Porphyria/Association Canadienne de Porphyrie is:
  • to deliver evidence-based information and support to patients with porphyria, their families, health care providers and the general public across Canada
  • to achieve standards and evidence-based comprehensive care for all people with porphyria throughout their lifespans.

New! Research for Canadians with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP): Phase 3 clinical trial of Mitsubishi Tanabe’s investigational therapy MT-7117 (dersimelagon) 

Research Goal: The study’s primary goal is to evaluate whether the therapy extends the daily sunlight exposure time before participants develop the first early symptoms — burning, tingling, or stinging — associated with sun exposure in the periods between one hour post-sunrise and one hour pre-sunset. Additional goals include assessing patients’ global impression of change and the total number of sunlight-induced pain events during the treatment period.

About the therapy: The study will evaluate (NCT04402489) MT-7117 is a man-made (synthetic) small molecule that binds to and activates the melanocortin-1 receptor (MC1R) protein. Given orally, the experimental therapy is intended to increase the production of a pigment called melanin to induce photoprotection (protection against sunlight) of the skin.

Participants: Male and female subjects with a confirmed diagnosis of EPP or XLP based on medical history, aged 12 years to 75 years. Detailed Eligibility Criteria can be found here.

How will it work: In the double-blind Phase 3 study, participants with either EPP — the most common porphyria of childhood — or XLP will be assigned randomly to a low or high-dose of MT-7117,  or a placebo, given once daily in the morning with or without food for 26 weeks. Enrolled patients may join an optional 26-week extension phase.

Researcher in Canada: Dr. Bruce Ritchie, University of Alberta, Edmonton, AB 

Who to Contact for more information:

Porphyria Awareness Week 2020 



April 24, 2020

Dear Friends,

This past year we were very pleased as the Canadian Blood Services began distributing a treatment for acute hepatic porphyria, Panhematin. This was the culmination of three years of advocacy as we presented to the CBS board in Edmonton, Ottawa, Toronto, and St. John’s on behalf of acute porphyria patients. Now, these porphyria patients have reliable, equal access to this life-saving treatment no matter where they live in Canada! 

In our efforts to inform Canadian patients, we keep up with the latest research by attending international Porphyria Patient Days and the International Congress on Porphyrins and Porphyrias (ICPP). The last one was in Milan in June, 2019. Although we are not medical professionals, we take good notes*. Here is a brief overview of some of this information:

TermsVP (Variegate Porphyria); HCP (Hereditary Coproporphyria); AIP (Acute Intermittent Porphyria); EPP (Erythropoietic Protoporphyria); XLP (X-linked ProtoporphyriaALA (Delta-aminolevulinic acid)PBG (Porphobilinogen)

Acute Hepatic Porphyria

Diagnosis: 

  • Increasing confusion in the USA over how to diagnose patients; uncertainty over positive genetic results and actual symptoms [Desnick, USA]; Diagnosing acute attacks is very difficult

  • Genetic testing - increasing trend to identify gene mutations without a compilation to use for diagnosis [Desnick, USA]; 

  • Biochemical tests - the accumulation of ALA and PBGfor VP and HCP are unknown [Phillips, UK]  and return to normal quicker [Desnick, USA]; Disagreement amongst porphyria experts about acceptable increased levels of ALA and PBG required to diagnose porphyria

  • Diagnostic delays very common [Kauppinen, Finland]; 

  • Penetrance of disease varies within families [Kauppinen, Finland]; 

  • Big discrepancy in diagnoses at labs. One european physician said “Never trust the lab”; lab results are unreliable in US and Canada

  • Light-protected urine samples were analyzed for stability. Urinary ALA appears stable for up to 7 days at room temperature but light-protected PBG is not stable at all when stored at room temperature [NAPOS, Norwegian Porphyria Centre]

Symptoms:

  • Triggers for acute symptoms are difficult to assess; Triggers of acute attacks usually more than 1 (hormones, fasting, lifestyle, drinking) [Kauppinen, Finland]; Dietary factors and psychological stress can both trigger AIP attacks [Storjord, Norway]

  • Patients have chronic symptoms with intermittent acute attacks [Ventura, Italy]

  • Trying to understand the relationship between symptoms and biochemical results [Desnick, USA]; High PBG associated with the most symptoms [Kauppinen, Finland]

  • Recurrent, severe attacks about 5% [Kauppinen, Finland]; 

  • AIP patients can have symptoms without increased ALA or PBG

Treatments:

  • Givosiran (Alnylam) results - benefits are reduced ALA and PBG, # of attacks, hospitalizations, urgent care, hemin treatment, pain, fatigue but problems with chronic kidney disease; no improvement in daily worst fatigue or nausea [Goya, France]; Givosiran is expected to receive approval in the USA in February, 2020 [Desnick, USA] editor’s note: Givosiran was approved in the USA Nov. 20/19

  • Treatment Guidelines - EPNET physicians (and 3 Canadian physicians) will participate in creating treatment guidelines; 

  • Liver transplant - ⅗ liver transplant patients died [Meisner, South Africa]; all 34 liver transplants in EU resolved attacks

  • High carbohydrate diets in Argentina are used to treat AIP

  • If PBG is low, heme arginate treatment does not work [Stein, UK]

Research:

  • Dr. Desnick, USA,  is conducting an international study using whole genome analysis to look for protective genes. The study will look at females who have porphyria attacks and their female relatives (Heterozygous siblings) who don’t have attacks. For more information: porphyria@mssm.edu | 1-212-659-6779

EPP

Treatments:

  • Effects of Iron Supplementation for EPP and XLP study - no changes in protoporphyrins for EPP, no hepatic function change for XLP, no change in quality of life assessment, GI side effects of oral iron therapy [Malwani, USA]

Research:

  • Mitsubishi-Tanabe oral medication will be moving forward with “more clinical trials” [Desnick, USA]

  • Assessment of prodrome time for EPP following exposure to light [Debby Wensink] 

We are saddened by the images we now see of Milan and our heart goes out to those affected by COVID-19 worldwide. To close, here is Andrea Bocelli: Music For Hope - Live From Duomo di Milano

Wendy Sauvé, President, CAP/ACP

*ICPP Notes are from Jeannie Reimer and Wendy Sauvé

April 20, 2020

Dear Friends,

As part of Porphyria Awareness Week I wanted to tell you who reaches out to our organization. Since we began in 2014, we have received emails from Canadians who have been diagnosed with porphyria, those who are looking for a diagnosis, and those who are looking for appropriate care. We have been contacted by parents, aunts, spouses and friends who are trying to help. We also receive requests from physicians, pharmacists, physiotherapists, and dentists. 

Our most frequent request is to provide physician contacts to patients. As we are aware of only a handful of Canadian physicians who are diagnosing or treating porphyria patients across our very large country, this is the most difficult request to fill. We do our best to connect patients with knowledgeable physicians and, if there is no physician close to them, we work to connect physicians with each other. Experienced physicians have always stepped up to provide support to physicians who may never have had a porphyria patient before. 

Knowing the importance of connecting physicians, we were thrilled to receive an Advocacy for Impact Grant from Alnylam Pharmaceuticals.

The Canadian Association for Porphyria focuses on delivering evidence-based information and advocating for comprehensive care that supports patients with porphyria, their families and health care providers. Throughout Canada, there is a low level of awareness of porphyria and many physicians do not have the full understanding needed to provide high-quality care to porphyria patients. With this grant, the association will develop the Canadian Network of Porphyria Experts in order to improve diagnosis and treatment of porphyria patients while enhancing management, education and investigation of the disease. 

As we recognize the vital role that physicians and other medical staff have in caring for COVID-19 patients, our work for this grant has been halted and will continue at a later date. If you know of any physicians, pharmacists, nurses, dentists or other medical staff who have been providing care to porphyria patients, please share their contact information with us atcanadianassocforporphyria.acp@gmail.com. Together, we will build a network to improve comprehensive care for Canadian porphyria patients.

On that note, I want to send a message to physicians who are diagnosing and caring for porphyria patients. I hear from patients and family members who struggle to express their deep appreciation to all of you. On behalf of them and our organization - Thank you!

Wendy Sauvé, President, CAP/ACP




April 18, 2020

Dear Friends,

This is a most unusual Porphyria Awareness Week as we all accommodate to life during the COVID-19 pandemic. We are grateful to the American Porphyria Foundation who were quick to share information about porphyria and COVID-19. We are including information below for all Canadians and, specifically, for Canadian porphyria patients.

Throughout Porphyria Awareness week, we will be sharing the successes and challenges of CAP/ACP. I invite you to share your stories, photos or drawings which we will do our best to include. We have important updates but we would really like to hear from Canadian porphyria patients, their family members and friends about their experiences.

Wendy Sauvé - President, Canadian Association for Porphyria/Association Canadienne de Porphyrie

ACCESS TO TREATMENT FOR CANADIANS WITH PORPHYRIA

Acute Intermittent Porphyria:

Panhematin - distributed by Canadian Blood Services and Héma-Québec

Recordati: Recordati Rare Diseases has marketed products that are manufactured in Europe, Canada, and the United States. At this time, we do not anticipate any interruptions to the supply of our products associated with the coronavirus COVID-19 outbreak. We will continue to proactively monitor material suppliers, manufacturing, and supply facilities within our global network to ensure continuity of supply. Recordati Rare Diseases is committed to product safety. 

Paul McCabe, VP and General Manager, Recordati Rare Diseases Canada Inc.

Canadian Blood Services: Provincial and territorial governments and Canadian Blood Services have resolved the issues related to access to urgent therapy. Canadian Blood Services has recently implemented a change to ensure all orders for Panhematin® for patients requiring the product urgently will be issued by CBS (i.e., urgent access to Panhematin® will not be limited).

Please note that Normosang® is not available in Canada following the introduction of Panhematin®. The decision not to offer Normosang® in Canada was made by the manufacturer, Recordati Rare Diseases (formerly known as Orphan Europe). As a result, Normosang® is not licensed by Health Canada and is not available through Canadian Blood Services.

Ellis Westwood, Stakeholder Engagement, Canadian Blood Services

Héma-Québec: At this point Héma-Québec does not expect any changes  with the Panhematin supply. We are sitting on a healthy inventory and we confirmed the same with Recordati. What might be difficult to predict is the access to the Normosang in case Health Canada approves a request for that product. Recordati informed us, that due to the situation, the process to bring in the product to Canada might be longer than the usual. Please keep in mind that the situation is changing rapidly as we are observing in the field and things might change anytime. 

Rima Khalil, Chef, produits stables, Direction des produits stables, Héma-Québec

Givosiran

Alnylam: For Canadian patients who are already receiving Givosiran through our ongoing clinical trial or Special Access Program, we will continue to provide access. The increasingly volatile nature of the pricing environment in Canada has unpredictable implications on our ability to commercialize Givosiran in Canada.  While we hope to learn more about pricing throughout the course of 2020, we are not able to accurately predict what the outcome will be or when it will occur. Given this situation, we cannot provide access to Givosiran for new patients through Health Canada’s Special Access Program (SAP).

Steven Roblin, Director - Medical Canada, Alnylam Pharmaceuticals Canada ULC


INFORMATION ABOUT COVID-19 FOR FOR CANADIANS


Government of Canada

Provincial

Yukon

Northwest Territories

Nunavut


British Columbia

Alberta

Saskatchewan

Manitoba

Ontario

Québec 

New Brunswick

Nova Scotia

Prince Edward Island

Newfoundland and Labrador


Municipal: There may also be municipal notices like this in Edmonton.



The Canadian Association for Porphyria/Association Canadienne de Porphyrie is pleased to announce that Canadian Blood Services will be distributing Panhematin [Hemin for Injection] manufactured by Recordati Rare Diseases Canada Inc beginning September 03, 2019. This will make hemin treatment available to all Canadians no matter which province or territory they live in.

More information CL_2019-21.pdf  https://blood.ca/en/hospital-services/customer-service/communications/customer-letters


Travel Grant 2020 Cancelled: Summer Camp for a Canadian child with

Erythropoietic Protoporphyria (EPP)

The Canadian Association for Porphyria/Association Canadienne de Porphyrie (CAP/ACP) is very sad to announce that the Travel Grant 2020 for a child with Erythropoietic Protoporphyria (EPP) to attend a camp for children with EPP in the summer, 2020 is cancelled until further notice. 



Thank you to those who attended the

Patient and Family Member Gatherings

Ottawa - December 7th, 2018

Toronto - December 8th, 2018

It was very nice to gather together! 


Canadian Blood Services Open Board Meeting

CAP/ACP Presentation

December 6th, 2018

Ottawa, ON

The Canadian Association for Porphyria/Association Canadienne de Porphyrie (CAP) continues to advocate to improve care for Canadians with porphyria. Our Access to Heme Treatment in Canada surveys in 2016 and 2018 clearly show that patients with porphyria who need to access the only treatment available are having difficulty accessing it (Access to Heme Treatment in Canada 2016). President, Wendy Sauvé, will be presenting to the CBS Board on December 6th in Ottawa. The presentation will be livestreamed and, if you are in Ottawa, you are invited to attend the board meeting.

We are very eager to hear how CBS has moved forward with the review process evaluating Panhematin as a drug to be carried. After three presentations to the CBS board (June 22nd, 2017 in Edmonton, December 7th, 2017 in Ottawa, and most recently, June 27th, 2018 in St. John's), it appears that the treatment, Panhematin, will be carried and distributed by CBS. This would make the treatment available to all Canadians!

On July 6th, 2018, Mel Cappe, Chair, Board of Directors, Canadian Blood Services, July 6, 2018 sent the following message:

"We believe Panhematin is an appropriate drug for us to carry. The Provincial and Territorial Blood Liaison Committee has agreed to move forward with a review of this drug using the Canadian Blood Services selection process for plasma protein products as a guide. 

The vendor’s submission was recently received, and it has been vetted and deemed appropriate from a medical and scientific standpoint. Knowing the review can take 12 to 18 months to complete, we are committed to moving forward on this and will streamline and accelerate the process wherever possible and appropriate."

Our presentations are here: 

June 2018 Presentation to CBS Board.pdf

December 2017 Presentation to CBS Board.pdf

June 22, 2017 Presentation to CBS Board .pdf

December 2018 Presentation to CBS Board (with text).pptx.pdf


News from Camp Sundown 2018



Camp Sundown: Camp for kids allergic to sunlight [The Big Idea]

 - At 10:30 p.m., kids at most summer camps are winding down for the night. But at a camp in Craryville, New York, the fun is just beginning.

Kickball, Frisbee, and singalongs at Camp Sundown all happen after dark because that is the only time the kids can be outside. Most of them are allergic to the sun. Just a few seconds of sun exposure can cause immense pain or even life-threatening cancer.

Morgan McKillop, 8, was diagnosed with erythropoietic protoporphyria, or EPP, when she was 2. The rare genetic disorder, characterized by photosensitivity, is caused by an enzyme deficiency.

This is Morgan's third summer at Camp Sundown, a program founded by Caren and Dan Mahar in 1996 after their daughter Katie was diagnosed with xeroderma pigmentosum, known as XP. The rare disease affects just one in a million people, whose genes lack the ability to process sun-damage.

After Katie's diagnosis, the Mahars were devastated. They knew that if they didn't do something, their daughter might be alone for the rest of her life. That something came first in the form of the Xeroderma Pigmentosum Society, a support and information group, and a year later Camp Sundown was born. Days are spent doing crafts, yoga and playing games indoors. Nights outside stretch into the early mornings.

That is a shared reality here. Mary and Ray Ventrice's daughter Gia, 6, was diagnosed with EPP as a toddler. The condition has taken a toll physically and emotionally. Her father said it affected her spirit. But little more than 24 hours after Gia got to camp, her spirit seemed to soar.

Camp Sundown is a family affair, so the campers with sun sensitivities come with their entire families—moms, dads, siblings. Often those family members get just as much out of the experience as the campers do.

Cathy and Brent Macfarlane's son Jack has EPP. This is the second summer they've made the trip from Ontario. Like most families at Camp Sundown, they didn't know anyone else dealing with a condition like their son's until they came here. They said they felt a sense of extended family at the camp.

In addition to the endless activities, one-on-one visits with medical experts, and the campfire s'mores, the week-long session of Camp Sundown is completely free for every family.

So Camp Sundown relies entirely on charitable donations. The Mahars said that each week-long session costs about $20,000, which they scrape together. But it is worth it because each camp session is a bright spot in the campers' lives. They run free like every child is supposed to, the Mahars said, and they are happy to be alive and in each other's company.



Summer Camp for Canadian children with Erythropoietic Protoporphyria

The Canadian Association for Porphyria/Associatio Porphyria/Association Canadienne de Porphyrie is pleased to announce that it has awarded travel grants to two very happy families to attend Camp Sundown, New York, USA.

It’s hard to imagine summer camp without sunshine, but for children with xeroderma pigmentosum (XP) or porphyria — two genetic conditions that cause severe injuries from UV rays — even the smallest amount of sunlight can be dangerous. At Camp Sundown in Craryville, children with these diseases can enjoy a week of swimming, arts and crafts, fishing, field trips, and most importantly, friendships with people just like them.   

Camp Sundown website, 2018

We would like to thank those who donated to this summer grant as they understand what attending this camp will mean to families. The CAP/ACP has committed to providing this grant again in 2019.




Alnylam Research Sites: 

Edmonton and Montréal

The Canadian Association for Porphyria/Association Canadienne de Porphyrie would like to share more information about the Alnylam research in Canada for patients with Acute Hepatic Porphyria. There are two research sites set up in Canada: Edmonton and Montréal. It is also possible for Canadians to participate in the United States studies if it is easier to travel to these sites (US sites are listed in the link). Arrangements can be made with Alnylam to cover travel costs. 

If you have questions about the research, please contact Stephanie in Edmonton or Victoria in Montréal.

Here is the link to the study.

ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP)

Location # 1 of 2
Edmonton, Alberta, Canada - Recruiting

Stephanie Nelson
Research Nurse, Clinical Trials Coordinator
Division of Hematology, Research Transition Facility
#4-016 8308 114 Street
Edmonton, Alberta Canada
T6G 2V2
Phone: 780-492-3980
Fax: 780-248-5899

snelson@ualberta.ca

Location # 2 of 2
Montréal, Québec, Canada - Recruiting


Victoria Eon
Site coordinator
Montreal Neurological Institute and Hospital, Quebec
Principal Investigator: Dr. Rami Massie
Phone: 514-398-1688*
Fax: 514-398-8576
Victoria.eon@mcgill.ca *preferred




The 2017 Report Card on Canada's Blood System refers to how "short‐sighted financial considerations have prevented access to a number of blood and plasma‐derived therapies for certain rare conditions. For example: Normosang and Panhematin, red cell‐derived products to treat porphyria, are not distributed via CBS, making access uneven and often impossible. The product is routinely available in Quebec through Héma‐Québec." 

Canadian Hemophilia Society, 2017




The International Congress on Porphyrins and Porphyrias (ICPP) 2017 was held in Bordeaux, France from June 25th to 28th, 2017. Three board members from the Canadian Association for Porphyria/Association Canadienne de Porphyrie attended the congress. We will be sharing new information from the congress soon.

How Can I Help?

"Patient self-organization is important for both mitigating uncertainty and driving progress toward improved treatments and outcomes for rare diseases."

Sara D. Khangura, et al., July 2015


Medical Disclaimer

Care has been taken to ensure that the information on this website is accurate at the time of publication. This information is, however, intended for general guidance only. The Canadian Association for Porphyria/Association Canadienne de Porphyrie disclaims for itself and for the author of this information, all responsibility for any mis-statements or for consequences of actions taken by any person while acting on information contained herein. Physicians and patients must make their own decisions according to the individual circumstances of each case.

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