Porphyria Awareness Week 2021
April 10, 2021
Welcome to Porphyria Awareness Week 2021!
As the president of the Canadian Association for Porphyria/Association Canadienne de Porphyrie, I continue to have the opportunity of meeting incredible Canadians whose lives somehow revolve around the rare disease, porphyria. Today, I extend my heartfelt recognition
to patients with porphyria who live with a disease that practically no one has heard of and most people can’t pronounce
to family members who care for someone with porphyria - from the very youngest to the elderly - with loving attentiveness
to nurses and physiotherapists who work to provide a safe hospital environment
to physicians who continue to put patient’s care first
and, finally, to those of you who understand and have supported our efforts to advocate for comprehensive care for all Canadians with porphyria.
I also have the privilege of working collaboratively with porphyria patient advocates from around the world. This year the Global Porphyria Advocacy Coalition created a video to help with porphyria awareness. Patient advocates from the US, UK, Australia, Germany, Spain, France, Germany, Mexico, Brazil and Canada also created videos that were specific to their countries. Here is the video for the Canadian Association for Porphyria/Association Canadienne de Porphyrie.
Throughout the week we will be sharing information about our efforts to create a network of patients, family members and caregivers across Canada to improve diagnosis and care for porphyria patients. Most importantly, we will also share stories from and about Canadian porphyria patients.
April 12, 2021
“When medical professionals learn someone has porphyria, they should consult with someone knowledgeable about porphyria so effective treatment will be given.”
Respondent, 2021 Acute Hepatic Porphyria patients/caregivers survey
Lack of awareness of porphyria among medical professionals can delay diagnosis and make it difficult for patients with porphyria to receive appropriate and timely care.
To improve awareness and address the challenges porphyria patients face in accessing care, the Canadian Association for Porphyria is developing the Canadian Porphyria Physician Network with an Advocacy for Impact Grant from Alnylam Pharmaceuticals.
The Canadian Porphyria Physician Network will improve care by:
Developing and sharing resources on the diagnosis and treatment of porphyria
Providing opportunities for medical professionals to connect, share their expertise and learn from each other
Increasing awareness through outreach and communication activities
If you would like to hear more about, or get involved in, the Canadian Porphyria Physician Network please sign up for notifications by completing this short form.
April 14, 2021
“I would have been so happy if at least one person could simply and fully understand me. Awareness for rare diseases such as erythropoietic protoporphyria could mean the world for people affected by them."
2018 Erythropoietic Protoporphyria (EPP) patients/caregivers survey
“I'm isolated from my community.”
2021 Acute Hepatic Porphyria patients/caregivers survey
Living with, and trying to manage, porphyria can be a painful and isolating experience. Treatments are limited, getting a diagnosis can be hard, many medical professionals have little to no knowledge of porphyria, and the nature of the disease can make it hard to develop and maintain relationships.
We want to make life easier for you. To support and connect people with porphyria and their families, the Canadian Association for Porphyria is:
Organizing workshops for people with porphyria and their families. These workshops will provide information and resources for your specific type of porphyria and provide an opportunity to connect with others.
Offering support for children with EPP to attend summer camp.
Advocating for increased variety and availability of treatments.
Sharing information on new research and treatments.
Creating more awareness of porphyria among medical professionals.
If you would like to hear more about upcoming workshops, the EPP summer camp and other resources and initiatives, please sign up for notifications by completing this short form.
April 16, 2021
“Caring for someone with porphyria is extremely challenging. Seeing someone in pain all day especially when you know there is only little that can be done, takes a big toll on you mentally.”
2021 Acute Hepatic Porphyria patients/caregivers survey
Recognizing Family and Friends
We want to take today to acknowledge how porphyria impacts not just the patient, but the people who care about and for them. When one person has porphyria, many people live with it. Caregiving is often an invisible and emotionally exhausting role: experiences of guilt, frustration and grief are common but can be hard to acknowledge.
The Canadian Association for Porphyria is planning workshops for people with porphyria and their families, and we also wanted to let you know about other Canadian organizations that are there to support family and friend caregivers:
If you are caring for a loved one with porphyria, or any other condition, thank you. Thank you for the support you provide, we appreciate it more than we can say.
If you would like to hear more about upcoming workshops and other resources and initiatives being offered by CAP, please sign up for notifications by completing this short form.
April 17, 2021
As the president of the Canadian Association for Porphyria/Association Canadienne de Porphyrie (CAP/ACP), I understand the need for support to porphyria patients and their caregivers. We know that accessing a diagnosis and/or treatment can be a challenge in Canada. We also know that by working together, we can improve care for porphyria patients and support for caregivers.
The CAP/ACP continues to build upon the work of the Canadian Porphyria Foundation which supported this community from 1988 to 2011. The mission of CAP/ACP directs our future:
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.
As the need for this organization continues, the need for ongoing support from the community increases. Our future depends upon the generous support of the volunteer directors, medical personnel from across Canada, our industry partners, and of our many members and friends.
We look forward to connecting with you this year.
Wendy SauvéPresident,Canadian Association for Porphyria/Association Canadienne de Porphyrie
(Version française plus bas)
GIVLAARI® (givosiran), a new treatment for acute hepatic porphyria, is being reviewed by the Canadian Agency for Drugs and Technologies in Health (CADTH) and l’INESS in Quebec. These reviews provide recommendations on the optimal use of, access to, and reimbursement for pharmaceutical treatments. The Canadian Association for Porphyria (CAP) is preparing a submission to represent the needs and perspectives of patients with porphyria and their caregivers. It is important to us that your experience and needs are reflected in our submission.
Questions? Contact Anna at firstname.lastname@example.org
GIVLAARI® (givosiran), un nouveau traitement pour la porphyrie hépatique aiguë, fait l’objet d’un examen par l’Agence canadienne des médicaments et des technologies de la santé (ACMTS) et l’INESS au Québec. Ces examens débouchent sur des recommandations sur l’utilisation optimale des traitements pharmaceutiques, l’accès à ces traitements et le remboursement. L’Association canadienne de porphyrie (ACP) prépare un mémoire afin de présenter les besoins et les points de vue des patients atteints de porphyrie et de leurs soignants. Il est important que votre expérience et vos besoins soient pris en compte dans notre mémoire.
Avez-vous des questions? Contactez Anna à l’adresse suivante: email@example.com
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:
Vicki Voong firstname.lastname@example.org| Phone: 780-492-3980
April 24, 2020
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:
Terms: VP (Variegate Porphyria); HCP (Hereditary Coproporphyria); AIP (Acute Intermittent Porphyria); EPP (Erythropoietic Protoporphyria); XLP (X-linked Protoporphyria; ALA (Delta-aminolevulinic acid); PBG (Porphobilinogen)
Acute Hepatic Porphyria
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]
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
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]
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: email@example.com | 1-212-659-6779
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]
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
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 firstname.lastname@example.org. 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
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
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
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.
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!
December 6th, 2018
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:
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.
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."