EMEA Scientific Poster Session

This article is part of an extensive feature on the 2023 HAEi Regional Conference EMEA, published in Global Perspectives #2 2023

Of 26 abstracts submitted to the Scientific Committee, 19 were accepted for poster presentation, and another 5 were accepted for oral presentation, making the Scientific Track a hub for the latest data on the diagnosis and treatment of HAE.

At the meeting, 18 posters were available, and 15 were presented in a fast oral format, with each author having two minutes to communicate key information to their peers. The following provides a summary of each study and conclusions from the short oral presentations:

1. Recognizing the Importance of Early On-Demand Treatment in the HAE Attack Journey
Douglas H. Jones, Princess Ogbogu, Sally van Kooten, Markus Heckmann, Sherry Danese, Ledia Goga, Markus Magerl
People living with HAE completed a 20-minute online survey of their attacks, including drivers for treatment and recovery goals. Prof. Markus Magerl said, “Patients recognize that to return to normal as soon as possible, they need to treat attacks early.” However, the authors suggest it will be important to explore if these studies align with patient behavior when treating attacks.

2. In Their Own Words – Patient Descriptions of the Earliest Recognition of HAE Attack Onset
Michael Manning, Autumn Burnette, Sally van Kooten, Markus Heckmann, Sherry Danese, Ledia Goga, Mar Guilarte
Presenter: Anna Valerieva
This survey tried to characterize how people living with HAE recognize and describe the onset of an attack. Respondents to the online survey showed a consistent ability to recognize and describe what the start of an HAE attack was like. Speaking for the authors, Dr. Anna Valerieva told her physician peers, “Most people recognize various symptoms of attacks. So, our survey results suggest that better communication and dialogue between caregivers, patients, and physicians might be initiated.”

3. Bowel Obstruction Secondary to a Small Bowel Tumour in a Hereditary Angioedema Patient: A Case Report
Anne Barasa, Antony Gatheru, Isaac Mwangi, Stanley Ngare, Dan Kiptoon, Edwin Walong
Abdominal HAE attacks can mimic other acute abdominal conditions. Here, a rare case showed that an HAE patient presented with abdominal pain, vomiting, and constipation; the patient experienced relief within 24 hours of C1-esterase inhibitor, but their symptoms quickly reoccurred. Surgery showed a cancer in the small intestine, which was removed. Lead author Dr. Anne Barasa reminded her audience, “We still need to remember that these patients can have other comorbidities or simultaneous diseases occurring at the same time.”

4. Case Study: The Very First Identified Case of HAE in Kosovo
Rushit Ismajli
Family doctor Dr. Rushit Ismaili, presents what is believed to be the first diagnosed HAE patient in the whole of Kosovo. Working with Prof. Vesna Grivcheva-Panovska in North Macedonia, the patient was formally diagnosed and received treatment. Following this, medication for HAE is now on the List of Essential Drugs. Dr. Ismaili told the audience, “We are on the way to identifying and treating other patients in Kosovo. I am here at the conference to exchange experience and hopefully improve the situation of people with HAE in Kosovo.”

5. Moving from Inadequate Acute Treatment and Prophylaxis to Successful Management with Lanadelumab
Clemens Schöffl, Lukas Koch, Werner Aberer
By examining the records of a mid-fifties male with HAE, these researchers were able to track the patient’s history of attacks over a period of 10 years as new therapeutic options became available. The authors conclude that these emerging therapies for HAE have exhibited exceptional effectiveness and safety profiles.

6. Hereditary Angioedema within a Family: Clinical Profiles, Treatment Response, and Laryngeal Edema Awareness
Giorgi Shengelidze, Maia Gotua
The authors highlight a family of three HAE patients with similar symptoms of abdominal pain and edema of the limbs, face, and larynx. Sadly, one of these individuals died from an unexpected and severe laryngeal attack. According to the authors, the patient was non-compliant with medication, leaving him without appropriate treatment for his condition, and reinforcing the need for education on the dangers of laryngeal edema and the procedures that should be completed on time. Dr. Giorgi Shengelidze said at the conference, “Even if you never had a laryngeal attack, there can still be a high chance of a fatal outcome. Additionally, even if the disease is fully controlled, patients still report the fear of attacks, which shows that the patient is not necessarily fine.”

7. People Living with Hereditary Angioedema (HAE) Prioritize Attack-free Status as a Target for Therapeutic Efficacy
Remy S Petersen, Timothy Craig DO, Sarah Friedhoff, Hootan Khatami MD, Theodora Cohen PhD, Anne-Elise Tobin PhD
This research asked 101 US residents with type I or II HAE what efficacy measures matter to them. Historically, health authorities have focused on the percentage reduction in frequency of attacks as the primary efficacy measure. However, in conclusion, the authors found that the most important endpoint was attack-free status, which aligns with HAEA and medical guidelines. Dr. Remy S Petersen told her peers, “The goals of HAE treatment should be to achieve complete control of the disease and a normal life for patients.”

8. Real-life Experience with Lanadelumab and sc-pd-C1-INH Prophylaxis After Almost One Year of Follow-up in Hungarian Patients with Hereditary Angioedema due to C1-Inhibitor-Deficiency
Hanga Réka Horváth, Beáta Visy, Henriette Farkas
This study looked at the safety and efficacy of two modern, targeted, long-term prophylactic treatments in the first eight months of treatment. In conclusion, the authors found no significant difference between the treatments regarding safety and efficacy. Speaking to the assembled physicians and scientists, Dr. Hanga Réka Horváth said, “We are seeing that both treatments are effective and safe in the clinical setting.”

9. Attack-Free Status Across Subgroups of Patients with Hereditary Angioedema (HAE) After 96 Weeks of Berotralstat 150 mg Treatment: Results from the Apex-S Trial
Avner Reshef, Heidi Zafra, Douglas T. Johnston, Dianne Tomita, Bhavisha Desai, Emel Aygören-Pürsün
This research investigated whether the effectiveness of oral HAE treatment berotralstat differed in patients according to age, gender, and prior use of HAE prophylaxis treatments. The authors conclude that the percentage of attack-free days remained consistently high with berotralstat monotherapy through 96 weeks, irrespective of baseline characteristics.

10. Early Symptom Relief Following Treatment with the Oral Bradykinin 2 Receptor Antagonist Deucrictibant Immediate-Release Capsule (PHVS416) in Patients with Hereditary Angioedema Attacks
Marcin Stobiecki, T John Anderson, Emel Aygören-Pürsün, Maria Luisa Baeza, Laurence  Bouillet, Hugo Chapdelaine, Danny M. Cohn, Aurélie Du-Thanh, Olivier Fain, Henriette  Farkas, Jens Greve, Mar Guilarte, David Hagin, Roman Hakl, Joshua S. Jacobs, Aharon  Kessel, Sorena Kiani-Alikhan, Pavlína Králíčková, H. Henry Li, Ramon Lleonart, Markus  Magerl, Michael E. Manning, Avner Reshef, Marc A. Riedl, Bruce Ritchie, Giuseppe  Spadaro, Maria Staevska, Petra Staubach, Gordon L. Sussman, Michael D. Tarzi, Anna  Valerieva, William H. Yang, Marie-Helene Jouvin, Rafael Crabbé, Simone van Leeuwen,  Huaihou Chen, Li Zhu, Jochen Knolle, Anne Lesage, Peng Lu, Marcus Maurer
A large multi-national team is investigating a potential on-demand and prophylactic treatment for HAE attacks. The group found that treatment with deucrictibant immediate release led to rapid symptom relief and resolution of HAE attacks. Dr. Marcin Stobiecki spoke at the oral session, saying, “There is an amazing need for oral treatment for our patients. Median time to the beginning of relief compared to the placebo is really very short; two hours instead of eight hours, and you have almost complete relief coming in about four hours compared to 24 hours with placebo.”

11. Efficacy and Safety of Bradykinin B2 Receptor Antagonism with Oral Deucrictibant in Prophylaxis of Hereditary Angioedema Attacks: CHAPTER-1 Phase 2 Trial Design
Emel Aygören-Pürsün, John Anderson, Mauro Cancian, Hugo Chapdelaine, Niall Conlon, Mark  Gompels, Sofia Grigoriadou, Maria Domenica Guarino, Tamar Kinaciyan, Ramon Lleonart,  Markus Magerl, Michael E. Manning, Marcin Stobiecki, Michael D. Tarzi, Anna Valerieva,  H. James Wedner, William H. Yang, Rafael Crabbé, Susan Mulders, Huaihou Chen, Li Zhu,  Jochen Knolle, Anne Lesage, Peng Lu, Marc A. Riedl
Again focused on the potential new oral treatment deucrictibant, this multi-center study group is looking at the long-term safety and tolerability of the investigational drug. In particular, the group present that this study will be part of the CHAPTER-1 trial, which is the first to evaluate the efficacy and safety of deucrictibant in prophylaxis of HAE attacks. Dr. Emel Aygören-Pürsün, presenting the poster, commented: ‘This study is already ongoing, with first, fast results expected at the end of this year.’

12. A Retrospective Study (INTEGRATED) of Real-world Effectiveness of Lanadelumab in European Patients With HAE Type I/II
Markus Magerl, Laurence Bouillet, Inmaculada Martinez Saguer, François Gavini, Laura Sayegh, Nawal Bent-Ennakhil, Irmgard Andresen
This research looked at the time between doses of a modern long-term prophylactic treatment for HAE, lanadelumab. The authors found that lanadelumab used as long-term prophylaxis improves the attack-free rate in HAE patients and that physicians can individualize patient treatment by extending the time between doses of the medicine. Dr. Laurence Bouillet told the audience of experts, “It is important to note that there are very few side effects, mainly pain around the injection.”

13. Is it Late-onset Hereditary Angioedema or Acquired Angioedema?
Tamar Kinaciyan
In a case report of a 68-year-old man, the authors present what they suggest may be a very late-onset hereditary angioedema. They base this on the man’s test results for C4, C1-INH protein, and others, although they express caution that this diagnosis may be a matter for debate.

14. Real-world evidence of the effectiveness of C1-INH SC in patients with HAE in Spain and Germany
Marcus Maurer, Stefan Cimbollek, Maebh Kelly, Kyle Rodney, John Elliott, Eduardo LoboGuerrero, Markus Magerl
This research aimed to provide real-world data on the outcomes of patients switching to subcutaneous (SC) injections of C1-INH replacement therapy for long-term prophylaxis (LTP). They found that C1-INH SC LTP significantly reduced attack rate and other measures of HAR disease activity in patients in Germany and Spain, regardless of baseline characteristics or previous treatment. Prof. Marcus Maurer succinctly summarized the data: “All I can tell you is it works. We should help patients move from less efficient on-demand treatment to more efficient treatment with modern options.”

15. Real-world evidence of the effectiveness of C1-INH SC in patients with HAE in Spain and Germany
Emel Aygören-Pürsün, Inmaculada Martinez Saguer, Markus Magerl, Andrea Zanichelli, Mauro Cancian, Maressa Pollen, Lolis Wieman, Avner Reshef
This research aimed to provide real-world data on the outcomes of patients switching to subcutaneous (SC) injections of C1-INH replacement therapy for long-term prophylaxis (LTP). They found that C1-INH SC LTP significantly reduced attack rate and other measures of HAR disease activity in patients in Germany and Spain, regardless of baseline characteristics or previous treatment. Prof. Marcus Maurer succinctly summarized the data: “All I can tell you is it works. We should help patients move from less efficient on-demand treatment to more efficient treatment with modern options.”

16. A Design of a Phase 3 Open-Label Study Evaluating Garadacimab for Prophylactic Treatment of Paediatric Patients (aged 2–11 years) with Hereditary Angioedema
Mohammad Reza Fazlollahi, Parichehr Bahraini, Leila Moradi, Anahita Razaghian, Zahra Alizadeh, Shiva Saghafi, Zahra Pourpak
This multi-center research project aims to further evaluate the use of garadacimab in pediatric patients. The authors present the design of the trial and its aim to provide data on the use of garadacimab in children with HAE, to address the unmet need for evidence-based treatment options for this population.

17. A Brief Report of Immunology, Asthma and Allergy Research Institute Activities for HAE Patients in Iran
Leila Moradi, Zahra Alizadeh, Mohammad Reza Fazlollahi , Anahita Razaghian, Zahra  Pourpak
This research sought to raise awareness of HAE, early diagnosis, family screening, and better management to improve patients’ quality of life and reduce illness and deaths. The work of the Immunology, Asthma and Allergy Research Institute (IAARI) in Iran was described, including a database to better understand the clinical characteristics of the disease and manage it. Dr. Parichehr Bahraini said: “We hope that our efforts, in addition to helping patients at a national level, will also improve the health of patients worldwide.”

18. An Unexpected Association of a Novel MYOF Variant with Generalized Myopathy and HAE-nl-C1-INH
Danny M. Cohn, Karen Lindsay, Padmalal Gurugama, Lauré M. Fijen, Remy S. Petersen, Carri Boiselle, Yuanxin Xu, Mary Carioto-Moreta, Adele Golden, James Butler, Mrinal Y. Shah, David Maag, Hilary Longhurst
Another Iranian research team presented a case report of a patient with recurrent angioedema, which was negative for common genetic mutations (C1-INH abnormality and SERPING-1). However, a novel missense heterozygous MYOF mutation was present. In addition to recurrent abdominal angioedema attacks, the patient had progressive weakness of the face and muscles in the hands and feet and difficulty rising from a chair or climbing stairs. The authors conclude that this is, to the best of their knowledge, the first case report of a MYOF missense mutation presenting with HAE with normal C1-inhibitor and generalized progressive myopathy.