General Program
Saturday morning, all participants were together again for the second day of the workshop, which offered a variety of highly relevant and informative topics.
HAE Primer: 12 Things You Should Know about HAE
The first item on the agenda was covered by the Scientific Program Co-Chairs: Prof. Zuraw, Prof. Bork, and Prof. Maurer. They talked about ‘Why do I have HAE?’, the goal of leading an entirely normal life with HAE, attack triggers, and the need to treat attacks early with effective medicines. The Co-Chairs also addressed questions such as the goal of long-term prophylactic treatment, finding the right doctor, the value of patient support groups, and medicines to be avoided.
In commenting on the long-term future for HAE treatments, Prof. Maurer said: “Much of it is science fiction today, but we are moving fast – and our goal is that in the future, a parent cannot pass HAE on to her or his child.”
HAE Treatments on the Horizon
In an engaging presentation, Prof. Marc Riedl and Prof. Markus Magerl took the audience on a journey into HAE treatments currently under development.
With more research currently being done than ever before, “the next years will be thrilling,” but they also entail a number of fundamental questions: Which treatment strategy should be chosen? Which medication is the right one? How should the treatment be applied? When and how should you switch to another medication? What is the treatment goal – and how do we ensure we achieve it?
Quoting Mahatma Gandhi that ‘The future depends on what we do in the present Prof. Riedl and Prof. Magerl presented the main HAE treatments on the horizon:
- PHA121 (Pharvaris): A highly potent, specific, and orally bioavailable competitive antagonist of the bradykinin B2 receptor – PHVS416 is a soft gel on-demand treatment capsule formulation containing PHA121 while PHVS719 is a prophylactic treatment tablet formulation also containing PHA121
- Sebetralstat/KVD900 (KalVista): A small molecule oral kallikrein inhibitor for on-demand treatment
KalVista is also developing an oral inhibitor of Factor XIIa.
- STAR-0215 (Astria): An investigational monoclonal antibody for potent inhibition of kallikrein activity with the goal of less frequent subcutaneous dosing, perhaps every three months or less
- Donidalorsen/IONIS-PKK-LRx (Ionis): An antisense oligonucleotide targeting plasma pre-kallikrein
- NTLA-2002 (Intellia): CRISPR/Cas9 gene editing delivered via lipid nanoparticles
- Garadacimab (CSL Behring): A humanized anti-factor XIIa monoclonal antibody with subcutaneous administration every four weeks
- BMN 331 (Biomarin): AAV5-based gene therapy enabling individuals to produce their own functional C1-INH protein after a one-time treatment
- OTL-105 (Pharming/Orchard Therapeutics):: Ex-vivo autologous hematopoietic stem cell (HSC) gene therapy
Prof. Riedl and Prof. Magerl emphasized that clinical trials will ultimately determine the safety, effectiveness, and tolerability of HAE therapies on the horizon.
New and Exciting HAEi Initiatives
HAEi’s Leadership announced an exciting new HAEi educational initiative targeting the youngsters’ community.
Operations Manager and Youngsters’ Community Coordinator Nevena Tsutsumanova and Chief Special Projects & Research Deborah Corcoran presented HAEi LEAP, which stands for Learning, Experiencing, Advocating, and Paving the Way.
>> Read more about the HAEi LEAP program
Perspectives and ACARE network updates
Prof. Marcus Maurer is HAEi’s Chief Medical Advisor. He is a prominent HAE global key opinion leader who, among many other roles, serves as the Executive Director for the Institute of Allergy at Charité – Universitätsmedizin Berlin, Germany.
Prof. Maurer delivered a memorable talk that mesmerized the audience. He addressed the importance of HAEi’s role in leading the global HAE movement and establishing closer relationships between patients and physicians.
Prof. Maurer then cited HAEi’s instrumental role in establishing the GA2LEN / HAEi Angioedema Centers of Reference and Excellence (ACARE). Regarding the ACARE centers, Prof. Maurer presented four primary goals:
- Provide excellence in angioedema management
- Increase the knowledge of angioedema through research studies and education
- Promote awareness of angioedema through advocacy activities
- Serve as referral centers for the diagnosis and management of angioedema, and thereby complement the current efforts and pathways of healthcare communities to provide adequate care for patients with angioedema
Currently, there are 74 certified ACARE centers in 34 countries and another 18 applicant centers, but in the words of Prof. Maurer, “It is our dream to have at least one ACARE center in every country in the world. Therefore, I urge you to work with us to fill the blank spots on the world map so we can make the dream come true together.”
When presenting the 32 requirements to be met to become an ACARE center in a peer-reviewed process Prof. Maurer said that his favorite criterion is ‘a never-give-up attitude’ as this indicates a “fight until we find a solution” approach.
Prof. Maurer also provided an overview of the scientific projects that ACARE is presently working on:
- IMAGINE: Identification of mutations in genes of patients with recurrent idiopathic and hereditary angioedema – in the recruiting phase (global rollout) until September 2023.
- SHAERPA: Stopping androgen treatment in patients with HAE – characterization of reasons and protocols and development of advice for patients and physicians – global rollout has just started.
- DANCE: A global consensus on the definition, acronyms, nomenclature, and classification of angioedema – global rollout (DELPHI process with expert panel).
- PROMUSE: Knowledge, perception, and limitations of Patient Reported Outcome Measures (PROMs) by physicians in allergic diseases – global rollout.
- HAPY: Hereditary Angioedema in Pregnancy – in the application phase.
Prof. Maurer also described ACARE’s educational outreach through a series of three online seminars. Furthermore, he gave a glimpse into the future of ACARE with possible topics such as learning clubs, dissemination campaigns, clinical fellowships, junior networks, interdisciplinary case conferences, academic career camps, pocket guides, and social media outreach programs.
Expert Panel Q&A
An Expert Physician Panel was the final session of the 2022 HAEi Global Leadership Workshop. Participants included Scientific Program Co-Chairs: Prof. Zuraw, Prof. Bork, and Prof. Maurer, along with the HAEi Scientific Program Committee: Dr. Teresa Caballero (Spain), Prof. Henriette Farkas (Hungary), Dr. Hilary Longhurst (New Zealand), Associate Prof. Jonny Peter (South Africa), Prof. Markus Magerl (Germany), and Dr. Bruce Ritchie (Canada).
HAEi friends provided the expert panel with a wide variety of compelling questions that covered HAE genetics, the science of why we swell, attack triggers, and the effectiveness and safety of available treatments.
Closing remarks
HAEi Board of Director members Beverley Yamamoto (Japan), Natasha Jovanovska Popovska (North Macedonia), Sarah Smith Foltz (Spain), and Michal Rutkowski (Poland) wrapped up the workshop by citing the magic of fellowship that further energizes the global HAE movement. They also shared compelling individual perspectives on how the learnings and camaraderie from the GLW experience will renew and accelerate advocacy activities in HAEi’s member organizations.
“In many ways, things are difficult in France at the moment – just as they are in many other countries. But I am glad to say that regarding HAE, that is not the case. So, really, if you have a rare disease, live in France!”
“If you’re looking for a miracle, don’t look any further, as maybe you are the miracle yourself. If we can do it in North Macedonia, certainly, so can you.”
“The theme of the workshop is ‘Together Again’, but since COVID-19 has been creating a distance between us for a long period, many have been together for the first time. It has been one big sharing experience for all participants, and now we have many things we can take back home with us.”
