EMJ Hematology 12 [Supplement 1] 2024

Review of EAHAD 2024

Interview

EAHAD Congress President Wolfgang Miesbach

Congress Feature

Hematology Supplement

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Congress Review

4 Review of the European Association for Haemophilia and Allied Disorders (EAHAD) International Congress 2024

Congress Feature

11 Optimising Outcomes of Haemophilia Treatment

Ada Enesco Congress

Interview

15 Wolfgang Miesbach

Welcome letter

Dear Readers,

Welcome to our supplement providing an excellent review of the European Association for Haemophilia and Allied Disorders (EAHAD) International Congress 2024. This supplement spotlights the key takeaways shared at the congress, an interview with a key expert, and a summary of a session on optimising outcomes on haemophilia treatment. Read on for key updates on blood disorders, including adherence to prophylactic treatment in haemophilia, haemophilic arthropathy, and Von Willebrand disease in paediatric patients, ahead of our main issue of EMJ Hematology later this year. Evgenia

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ISSN 2053-6631

EMJ Hematology Volume 12 Supplement 1 is published once a year. For subscription details please visit: www.emjreviews.com

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Front cover and contents photograph: Frankfurt, Germany home of the EAHAD 2024 © rudi1976 / stock.adobe.com

EAHAD 2024

Review of the European Association for Haemophilia and Allied Disorders (EAHAD) Annual Congress 2024

Location: Frankfurt, Germany

Date: 6th–9th February 2024

Citation:

EMJ Hematol. 2024;12[Suppl 1]:4-10. DOI/10.33590/emjhematol/11000029. https://doi.org/10.33590/emjhematol/11000029.

FRANKFURT, Germany, well known across Europe for its culture, education, and above all, bustling financial district, was home to the 17th Annual European Association for Haemophilia and Allied Disorders (EAHAD) Congress this year. The much anticipated event saw nearly 2,000 experts from around the world flock to the city of skyscrapers between 6th–9th February 2024 to present on the latest developments in the field, share information on current clinical research, and exchange ideas with other healthcare professionals, all to improve clinical care for patients with inherited or acquired bleeding disorders.

The congress featured an enthusiastic welcome from 2024 EAHAD Congress President, Wolfgang Miesbach, who discussed the ongoing innovation and education in haemophilia research which makes EAHAD unique. He praised the collaboration and cooperation of EAHAD and other scientific centres, before going on to discuss the latest projects being undertaken by the association, such as the EAHAD Gene Therapy Working Group, and a new webinar series organised by the Nurses Committee intended to educate on the role nurses can have in treating bleeding disorders. Miesbach then turned his attention to this year’s congress, highlighting several of the illuminating sessions he looked forward to attending, before

closing his speech with some recommendations for first-time visitors in the city, not least that they try some traditional food, namely Grie Soß and apple wine.

Later in the day, this year’s EAHAD research grant reports and awards were presented. Ilja Oomen, Amsterdam University Medical Centre, the Netherlands, briefly presented her research entitled ‘Getting a Grip on Tolerance’, focusing on the dendritic cell response to FVIII immune complexes. The second research report came from David Stephenson, Canterbury Christ Church University, UK, for his work on identifying performance-based outcome measures of physical function in patients with haemophilia; and the third from Anna Wells, Hampshire Hospitals NHS Foundation Trust, Basingstoke, UK, who discussed post-traumatic stress symptoms and pain memories amongst patients with haemophilia. The second half of this session saw chairs Miesbach and Robert Klamroth present EAHAD lifetime achievement awards to Ulla Hedner, Novo Nordisk Haemophilia Foundation, for her lifelong commitment to haemophilia research, as well as her pioneering work on the use of recombinant coagulation factor VII; and Kate Khair, Haemnet, London, UK, for her extensive advocating for the role of nurses in haemophilia care.

The closing presentation saw Miesbach thank EAHAD President, Robert Klamroth, for his 2 years in the position, and all the work he has done for the association. Miesbach further expressed his gratitude for every individual who had a hand in organising the congress and making it such a roaring success. Former EAHAD President, Flora Peyvandi, gave a rousing speech

in which she implored everyone listening to continue their hard work, research, and reporting on haemophilia.

Read on for our key insights into the 2024 EAHAD Congress, and watch out for next year’s meeting, taking place in February 2025 in Milan, Italy. ●

Evaluation of Adherence to Prophylaxis Treatment in Haemophilia

NON-adherence to prophylactic treatment has significant implications for the development of arthropathies and mortality in patients with haemophilia. A recent study highlighting the importance of adhering to prophylaxis for haemophilia was presented at the 17th Annual Congress of the EAHAD, which took place in Frankfurt, Germany, from the 6th–9th February 2024.

A total of 95 patients with haemophilia A and B were included in the retrospective study, of whom 62 had severe haemophilia, and 33 had moderate haemophilia. Among these individuals, 77 (92.50%) were on secondary/ tertiary prophylaxis regimens, and 18 (57.89%) were on primary prophylaxis. Only 23 patients on secondary/tertiary prophylaxis adhered to regular prophylaxis, with 54 patients reporting irregular adherence. Among patients on primary prophylaxis, 12 maintained a regular regimen, and six had irregular adherence.

Irregular adherence to haemophilia prophylaxis can increase the risk of bleeding and musculoskeletal complications. The study reported a significant proportion of patients on secondary/tertiary prophylaxis (54 out of 77) following an irregular treatment pattern; however, a higher proportion of patients on primary prophylaxis (12 out of 18) reported regular adherence.

Treatment adherence can be influenced by many clinical and psychosocial factors, such as a family history of bleeding and a lack of social support; therefore, the individualisation of treatment must be considered, to meet the specific needs of each patient. Factors such as the quality of venous access, frequency of infusions, patients’ life routines, associated costs, and the potential development of arthropathies, must be taken into account to improve adherence, preserve joint health, and ensure a better quality of life for patients with haemophilia. ●

"Irregular adherence to haemophilia prophylaxis can increase the risk of bleeding and musculoskeletal complications."

Haematuria Management in Paediatric Congenital Haemophilia A

PAEDIATRIC patients diagnosed with haemophilia with inhibitors can encounter a rare but serious complication whilst undergoing treatment with bypassing agents, in the form of an inhibitory antibody to factor VIII (FVIII). Bypassing agents are also used to prevent bleeds in this patient group. Those with haemophilia frequently experience haematuria, which can significantly worsen their quality of life.

Lead study author Murat Sokar, Paediatric Hematology and Oncology, Dicle University Medical Faculty, Diyarbakır, Türkiye, and colleagues, presented a case of a 14-year-old male at this year’s EAHAD Congress, held in Frankfurt, Germany, in February.

The patient in question, who had been diagnosed with severe haemophilia A (FVIII level 1) with inhibitor at the age of 8 months, presented with asymptomatic macroscopic haematuria. He was currently on episodic therapy and had an FVIII inhibitor titre of 9.4 BU. His vital signs were stable. The patient underwent radiologic imaging of his abdomen and ultrasonography of his pelvis. A microthrombus was found in his bladder.

He was started on hyperhydration and was placed on complete bed rest, as well as receiving two doses of activated prothrombin complex concentrates (aPCC). On Day 2, once he had received four doses of aPCC in total, his haematuria persisted. Doctors discontinued

aPCC, and started the patient on a treatment of recombinant FVIIa at 90 μg/kg−1 per dose; this treatment was continued every 6 hours, for 4 days. Four days later, after 19 doses of recombinant FVIIa, the patient’s haematuria was rectified, and a bladder ultrasound demonstrated normal results. The FVIIa treatment was discontinued, as was hyperhydration. After discharge, the patient continued to take aPCC 3 days per week, as a secondary prophylaxis. No bleeding and normal kidney functions have ensued, and the patient is receiving follow-up care in an outpatient setting.

"Macroscopic haematuria is a significant problem for patients with haemophilia."

The development of FVIII inhibitors is persistently the most serious complication of congenital haemophilia A management. Despite haematuria being widely considered a benign complaint, the literature demonstrates that macroscopic haematuria is a significant problem for patients with haemophilia. Sokar and colleagues stress that more studies are needed to determine the correct management of haematuria with possible renal dysfunction. ●

Musculoskeletal Ultrasound in Haemophilia and Sports

MUSCULOSKELETAL ultrasound is an effective method for monitoring intra-articular and intramuscular haemorrhage, which allows patients with haemophilia to safely return to sports activities. The new research was presented at the 17ᵗʰ Annual Congress of the EAHAD, which took place in Frankfurt, Germany, from 6ᵗʰ–9ᵗʰ February 2024.

The study examined a group of children, adolescents, and young adults (4–27 years) with haemophilia who play sports recreationally, under supervision. Basketball players were found to suffer the most from injuries, despite prophylactic treatment, and one patient with mild haemophilia A developed acute compartment syndrome, after receiving an impact while playing soccer. Patients who swam did not present significant haemorrhages. The most severe muscular injuries occurred from direct impact, while a minority were caused by overload.

The authors found musculoskeletal ultrasound to be the ideal method for evaluating intra-articular bleeding, as well as peri-articular or muscular

soft tissue haemorrhage. As a fast, economical, and radiation-free method, it allowed the team to assess the size of patient haematomas, and their relationship with the bone plane, to avoid the formation of myositis ossificans. It also enabled monitoring of haematoma size reduction until complete healing of the injury, for a safe return to usual sports activity. Furthermore, musculoskeletal ultrasound allowed the detection of uncommon bleeding manifestations in acute compartment syndrome, which can lead to irreversible tissue damage, as well as small haematomas, not detectable in physical examinations, and interstitial haemorrhage.

The team emphasised the usefulness of musculoskeletal ultrasound for monitoring the health of patients with haemophilia who play sports, minimising the risk of relapse, avoiding new injuries, and allowing safe re-incorporation into sports practice. They also highlighted the importance of working in an interdisciplinary team to provide the most efficient diagnostic methods and improve patient support. ●

"Musculoskeletal ultrasound allowed the detection of uncommon bleeding manifestations in acute compartment syndrome."

The Value of MRI in Early Haemophilic Arthropathy Detection

NOVEL research presented at the 17th Annual Congress of the EAHAD, which took place in Frankfurt, Germany, between 6th–9th February 2024, explored the role of T1 3D fast field echo (FFE) MRI sequence in detecting early signs of joint arthropathy in patients with haemophilia.

Given the frequency of haemophilic arthropathy as a complication of haemophilia, Gehan Lofty Khalifa and Mohammed F. Amin, Minia University, Al Minya, Egypt, performed a cohort study to assess whether MRI was capable of detecting joint changes at an early stage and whether this correlated to patients’ symptoms.

To do this, they enrolled 70 patients with haemophilia aged 2–18 years. All participants had a full clinical history taken, had affected target joints that were managed with either prophylactic or on-demand therapy protocols, and had an assessment of the musculoskeletal function of their joints using the Hemophilia Joint Health Score (HJHS; version 2.1). These functional assessments were evaluated by a haematologist and a physiotherapist, and the International Prophylaxis Study Group (IPSG) MRI scale was utilised to score the MRIs of examined joints.

The findings revealed a strongly positive correlation between the HJHS score and IPSG MRI scores for those with symptomatic joints (p<0.001). Conversely, no significant correlation between HJHS and IPSG MRI scores was identified for those with asymptomatic joints. Of note, the T1 3D FFE MRI sequence performed better in detecting hemosiderin and cartilage degeneration, markers of early haemophilic arthropathy, in asymptomatic joints than in symptomatic joints.

"The T1 3D FFE MRI sequence can be used to identify early haemophilic arthropathy changes."

They concluded that MRI can identify pathology in asymptomatic joints with a normal clinical examination and that the T1 3D FFE MRI sequence can be used to identify early haemophilic arthropathy changes in such patients. This could allow for earlier intervention before progression to more advanced states. ●

New Insights Into Paediatric Diagnosis of von Willebrand Disease

DIAGNOSIS of von Willebrand disease (VWD) can be difficult, especially in populations of children with fewer haemostatic challenges. Using the FranceCoag, a French cohort of inherited bleeding disorders, a new study has emerged with results that highlight the importance of family screening. This investigation was presented at the 17th Annual Congress of the EAHAD, which took place in Frankfurt, Germany, from the 6th–9th February 2024.

Patients are usually diagnosed through three different features: bleeding symptoms, family history, or fortuitous discovery. The usefulness of this work is clear when the scarcity of published literature on diagnosing symptoms of VWD in children is considered.

Close to 14,000 patients diagnosed with an inherited bleeding disorder were included in the registry, using the multicentre cohort from FranceCoag. Participants were diagnosed with VWD between 2003–2022, whilst younger than 18 years of age. Diagnosing features, severe bleeding, and treatment requirements were all studied until participants reached 18 years. In the current study, 3,578 patients with VWD were taken from the overall cohort, and 1,054 were included in the investigation, 49% of whom

were male. Eight percent (n=73) presented with a very severe VWD (von Willebrand Factor [VWF]: <5% or factor VIII: <5%), 39% (n=374) with severe VWD (VWF: 5–15% and factor VIII: >5%), and 54% (n=518) with moderate VWD (VWF: 16–40% and factor VIII: >5%). A total of 60% of the patients were diagnosed in the context of family history, 22% due to bleeding features, and 17% fortuitously. Overall, 68% did not necessitate treatment during follow-up. The median age at first treatment was 4.7 years, and this first treatment was non-substitutive in 17% of the patients (n=57). Meanwhile, substitutive VWF was used in 40% of the patients (n=135). Prophylaxis was required in only 24 patients, and just 20 severe bleedings were reported: nine intracranial haemorrhages, nine gastrointestinal bleedings, and two uterine bleedings. The median age at the time of severe bleeding was 6 years.

The results from this study highlight the rarity of fortuitous discovery in paediatrics and underscore the importance of familial screening. This study will inform decision-making in practice, encouraging screening from a young age despite a lack of need for specific treatment from low severe bleeding occurence. ●

"The usefulness of this work is clear when the scarcity of published literature on diagnosing symptoms of VWD in children is considered."

Authors:

Citation:

Optimising Outcomes of Haemophilia Treatment

Ada Enesco, EMJ, London, UK

EMJ Hematol. 2024;12[Suppl 1]:11-14. DOI/10.33590/emjhematol/11000032. https://doi.org/10.33590/emjhematol/11000032.

The 17th Annual Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) took place in Frankfurt, Germany, from the 6th–9th February 2024. In an inspiring session, experts shared promising advances in gene therapy, telemedicine, and artificial intelligence, and a hopeful vision for the future of patients with haemophilia.

TOWARDS A HAEMOPHILIA-FREE MIND

Cedric Hermans, Cliniques Universitaires Saint-Luc, Brussels, Belgium, opened the session by highlighting the profound impact of haemophilia on the emotional wellbeing of patients, and the strong link between physical and mental health. In the past decade, a dramatic evolution in haemophilia care has occurred, with the introduction and increased availability of replacement and non-replacement therapies. This has led to a paradigm shift in treatment aims, from patient survival and prevention of life-threatening bleeding to improvement to quality of life. “We live in a new haemophilia care environment,” explained Hermans, “with new treatment modalities, new treatment ambitions, and new treatment outcomes.”

With standard half-life prophylaxis, haemophilia severity can be reduced by one degree, but the aim of newer therapies is to enable more dramatic changes in phenotype. New ambitions for treatment should aim for ‘mental liberation’ of patients, where patients can be freed from the daily fears and constraints of haemophilia, and the burden of repeated, poorly tolerated treatments. Hermans asked his patients: “Do

you currently experience days when your mind is not preoccupied by haemophilia?” The answer given often depended on treatment modality. While prophylaxis with short-acting factor concentrates offered little mental liberation, nonfactor replacement therapies allowed patients some degree of liberation. However, the newest treatment approach, gene therapy, holds the greatest promise for bringing patients one step closer to a haemophilia-free mind.

However, Hermans emphasised that complete ‘mental liberation’ is still impossible. Gene therapy and non-replacement therapy do not cure haemophilic arthropathy, and long-term effects of new treatments are still uncertain. Furthermore, the hereditary nature of haemophilia remains unchanged, affecting family planning. Current therapies cannot prevent “the possible irreversible, social, family, professional, and educational frustration or deprivations attributable to haemophilia,” explained Hermans, “as well as the burden of transmitting genetically a disease with serious consequences.” He emphasised that multidisciplinary care is crucial in treating haemophilia, to better understand and tackle the complex ‘ecosystem’ of each patient.

Furthermore, Hermans concluded that only 15% of people with haemophilia worldwide have

"We live in a new haemophilia care environment,” explained Hermans, “with new treatment modalities, new treatment ambitions, and new treatment outcomes."

access to effective treatment, “an unacceptably low number,” making health equity a priority in haemophilia care.

LONG-TERM MONITORING OF JOINT HEALTH

Roberta Gualtierotti, Università degli Studi di Milano, Italy, drew the audience’s attention to the long-term challenge of arthropathy in haemophilia. Even a single joint bleed can lead to irreversible joint damage, and repeated joint bleeding results in chronic pain, reduced mobility, and decreased quality of life. New tools for earlier detection of joint bleeding and long-term monitoring of joint health are needed.

Musculoskeletal ultrasound is a non-invasive and easily accessible tool to assess joint health; however, it requires a physical visit to a care centre, and the number of ultrasound experts is limited. Gualtierotti explained that artificial intelligence (AI) and telemedicine can serve as powerful tools to aid patients with the acquisition of ultrasound images at home, and support practitioners in the follow-up process.

Gualtierotti shared the new telemedicine system proposed by her team, which integrates AI and musculoskeletal ultrasound to follow patients from their home. Images obtained by patients are sent to medical practitioners for remote evaluation of joint bleeding risk, and patient advice can be given almost immediately. To ensure a quick and

reliable process, Gualtierotti and team proposed the CADET, a computer-aided diagnosis tool that contains a set of AI tools to support the process of remote joint bleeding identification. “Through an evidence-based approach, telemedicine and AI need to be validated to assist patients, caregivers, and physicians,” stated Gualtierotti.

Gualtierotti also highlighted the current lack of consensus on ultrasound definitions of haemophilic arthropathy, and of validated biomarkers. Research from her group on the histopathological and transcriptomics landscape of synovitis in arthropathy is currently ongoing. She insisted that novel biomarker discovery, along with standardisation of current parameters for joint damage and bleeding, will be required to guide patient treatment and management.

Finally, Gualtierotti stressed the need for new tools that monitor the physical activity of patients with haemophilia. Few mobile applications actually allow practitioners to use patient data for personalised treatment. The TEMPO project, funded by the Italian Ministry of University and Research, is integrating patients’ diaries with activity collected by joint ultrasound images, to understand bleeding risks during physical activity. Furthermore, to increase adherence to rehabilitation plans, Gualtierotti’s group has developed the Play4Physio mobile app, which allows players to control games with their body movements, recognised through the mobile device camera.

SECOND-GENERATION HAEMOPHILIA GENE THERAPY

In the final presentation, Denise Sabatino, University of Pennsylvania, Children’s Hospital of Philadelphia, USA, explained how new gene therapies are revolutionising haemophilia care. The first adeno-associated virus (AAV) gene therapy products have now been approved for haemophilia A and B, with patients achieving therapeutic levels of factor VIII (FVIII) and factor IX (FIX), respectively.

Sabatino pointed out that the current issue with gene therapy is durability: “How long will FVIII or FIX expression last after treatment?”

In recent studies, long-term follow-up in patients receiving AAV gene therapy for haemophilia B showed sustained levels of FIX expression for approximately 10 years, but patients treated with AAV gene therapy for haemophilia A showed a fast decline in FVIII levels.1 Furthermore, the lack of predictability of individual patient responses, and uncertain long-term safety outcomes, remain key obstacles for patients treated with AAV gene therapy.

Sabatino stated that second-generation gene therapy approaches may provide opportunities to overcome these challenges, for instance by using variant FVIII or FIX proteins with enhanced function. The FIX Padua variant exhibits eightfold greater specific activity than wild-type, and has been incorporated as second-generation

haemophilia B gene therapy. No patients have developed antibodies to FIX Padua in any AAV studies. However, for haemophilia A, an FVIII variant has not yet been established as a second-generation platform. “FVIII variants with enhanced function may provide novel strategies for improving second-generation approaches for AAV gene therapy,” said Sabatino.

Several FVIII variants are currently in pre-clinical development. For instance, FVIII-V3 comprises a synthetic B domain that facilitates secretion of the protein, and has shown two- to three-fold higher expression than wild-type in mice and primates.2 Sabatino and colleagues also identified variant FVIII Δ3-SP/DE, which expresses twoto five-fold higher than wild-type in primates, overcoming the key issue of low FVIII expression in haemophilia A therapy. Sabatino explained that using FVIII variants offers several benefits, such as overcoming inefficient FVIII secretion, while using lower vector doses, and therefore minimising potential toxicities. However, she noted they also carry the risk of potential immunogenicity against the modified protein, where animal models may not accurately predict immunogenicity in humans.

In addition to new variants, Sabatino explained that alternative gene delivery approaches could enhance haemophilia gene therapy outcomes. One of the key characteristics of AAV is that it remains primarily episomal, with very low integration frequency, which was initially regarded as a benefit.

"FVIII variants offers several benefits, such as overcoming inefficient FVIII secretion, while using lower vector doses, and therefore minimising potential toxicities."

However, Sabatino pointed out that episomes may be diluted out upon cell division, leading to loss of expression. Furthermore, re-administration of AAV is not currently possible, due to the development of anti-AAV antibodies upon vector administration. She introduced alternative gene delivery approaches, where the transgene is integrated into the target cell genome, using lentiviral vectors, transposons, or a targeted approach like CRISPR/ Cas9. These techniques would lead to persistent expression of the transgene.

Sabatino shared a novel ex vivo approach that uses a lentiviral vector to target haematopoietic stem cells. FVIII is synthesised and stored in the stem cells, which are then reintroduced into patients to be released at the site of vascular injury. This approach is currently being trialled in patients with severe haemophilia A with history of inhibitors, and has shown positive results in the first patient.3

References

1. Samelson-Jones BJ, George LA. Adeno-associated virus gene therapy for hemophilia. Annu Rev Med. 2023;74:231-47.

2. University College, London. Gene therapy for haemophilia A.

Finally, non-viral delivery approaches, like DNA transposons, which use lipid nanoparticles for delivery, offer the unique potential for redosing, as antiviral antibodies are not an issue. The CRISPR/Cas9 system has also allowed targeted, stable gene insertion of FIX for haemophilia B.4 However, additional studies will be required to evaluate off-target effects.

CONCLUSION

In an era of new treatment milestones for haemophilia, the focus is now placed on improving patient quality of life and mental wellbeing. Second-generation gene therapies, the integration of AI and telemedicine, and a multidisciplinary model are on the horizon for haemophilia care.

(GO-8). NCT03001830. https:// classic.clinicaltrials.gov/ct2/show/ NCT03001830.

3. Wilcox DA et al. Gene therapy expressing platelet-derived factor VIII for correction of hemophilia A with a history of inhibitors. Blood. 2023;142(1):2249.

4. Sabin L et al. Novel approaches for gene-based therapies: targeted gene insertion of factor 9 as a potential durable treatment for hemophilia B. Paper 172164. ASH Annual Meeting, 9-12 December, 2023.

Congress Interview

EMJ had the pleasure of speaking to the President of the European Association for Haemophilia and Allied Disorders (EAHAD), Wolfgang Miesbach. Read on to discover his highlights from the EAHAD 2024 congress, and the discussion of pertinent topics, such as gene therapy, haemophilia B, and patient-centred research.

Featuring: Wolfgang Miesbach

Citation:

Wolfgang Miesbach

Professor of Medicine, Frankfurt University Hospital, Germany; Congress President, European Association for Haemophilia and Allied Disorders (EAHAD)

EMJ Hematol. 2024;12[Suppl 1]:15-17. DOI/10.33590/emjhematol/10302349. https://doi.org/10.33590/emjhematol/10302349.

Q1

Could you share the story behind what initially sparked your interest in medicine and, specifically, what experiences or influences led you to specialise in blood coagulation, with a focus on conditions like haemophilia?

I have always been fascinated by the human body's complexity and resilience. During medical school, I was drawn to the intricate balance of blood coagulation. The challenge of managing conditions like haemophilia, where even a small imbalance can have significant consequences, motivated me to specialise in this field.

"My primary aim is to enhance international collaboration in haemophilia research."

Q2

Reflecting on your career, what are the most significant changes or advancements you have observed in the treatment of haemophilia? How have these developments transformed patient care and treatment outcomes?

Over my career, the advancements for haemophilia treatment have been revolutionary. Initially, treatment focused primarily on managing bleeding episodes. Now, we are moving towards more permanent solutions like gene therapy, offering the potential for long-term control, or even a cure. This shift has transformed patient care, significantly improving their quality of life, and reducing long-term complications.

Q3

What are some of the exciting changes, or new features, which you have implemented for the upcoming European Association for Haemophilia and Allied Disorders (EAHAD) 2024 meeting? How do these changes reflect the evolving needs and trends in haemophilia research and treatment?

The EAHAD 2024 meeting will maintain its traditional structure, while introducing some new elements in its 4-day programme. The event begins with the Allied Health Professionals Day, and concludes with the presentation of latebreaking abstracts. Highlights include a session on the impact of artificial intelligence in research, patient care, and scientific communication. A significant focus will be on non-factor therapies, and optimising the outcome of haemophilia treatment. The conference will also feature new elements, such as pro and con debates on current, controversial topics in haemophilia, allowing for active participation from attendees. Additionally, there will be presentations of interdisciplinary work by EAHAD working groups, and reports from the Research Grant winners.

The EAHAD Lifetime Achievement Awards 2024 will be presented, with special presentations by Ulla Hedner on the development of rFVIIa, a haemostatic agent; and reflections by Kate Khair on a lifetime of haemophilia nursing.

The 2024 Arosenius Lecture will be given by Karin Fijnvandraat on insights into non-severe

haemophilia. The event will also include poster awards; the 2023 research grants awards; and a panel discussion on the challenges of access, reimbursement, and the feasibility of new treatments, with a focus on practicability, functionality, and sustainability.

Q4

During your tenure as EAHAD Congress President, what specific goals or objectives are you hoping to achieve? How do these align with the broader vision and mission of the association?

As the Congress President of EAHAD 2024, my primary aim is to enhance international collaboration in haemophilia research, with a specific focus on integrating new technologies. This involves swiftly translating emerging research into clinical practice, directly benefiting patients. This approach aligns with EAHAD's mission to elevate care standards for those with haemophilia and related disorders. We are prioritising interdisciplinary collaboration and patient-centric strategies, introducing sessions that blend research, clinical practice, and patient advocacy. These initiatives address the evolving needs in haemophilia care, and are geared towards promoting patient-focused research and treatment strategies, ensuring that advancements in technology and medicine directly improve patient outcomes.

Q5

How does the work and initiatives of EAHAD directly impact clinicians in their practice? Furthermore, how do these effects indirectly benefit patients living with haemophilia and related disorders?

EAHAD plays a crucial role in shaping clinical practices by providing cutting-edge research, guidelines, and training opportunities. This directly enhances clinicians' ability to offer the latest treatments and care strategies. Indirectly, these improvements in practice greatly benefit patients, leading to better management of their conditions, and an overall enhancement in quality of life.

"We are on the brink of several exciting innovations in coagulation disorders."

Q6

What unique approaches or practices have been adopted at Frankfurt University Hospital in the field of haematology that could serve as valuable learning points for other university hospitals?

Frankfurt University Hospital has pioneered a comprehensive care model in the care of patients with blood coagulation disorders, emphasising multidisciplinary collaboration and patient-centred research. With this approach to integrating research directly into clinical care, patient benefit can be ensured from the latest scientific advancements in real-time.

Q7

Are there any groundbreaking innovations in the field of coagulation disorders that are on the cusp of being translated into clinical practice? What impact do you anticipate these innovations will have on patient care and disease management?

We are on the brink of several exciting innovations in coagulation disorders. These include advanced cell and gene therapies, and novel anticoagulants that promise greater efficacy, and fewer side effects. I anticipate these developments will greatly enhance patient care, offering more personalised and effective disease management strategies.

Q8

Following your recent publication, entitled ‘The current challenges faced by people with haemophilia B’, can we expect your research and professional focus to predominantly lie in this area of rare hereditary diseases in the near future? What drives your interest in this specific field?

One of my recent publications reflects a growing interest in the unique challenges of haemophilia B, and similar rare hereditary diseases. I plan to continue focusing on these areas, driven by the need for better understanding, and improved treatments. These conditions, often overshadowed by more common disorders, deserve more attention and research, to provide better care for those affected. ●

Realising the Promise of Gene Therapy for Haemophilia: Current Status and Future Innovations

This article summarises multiple presentations given at the 64th American Society of Hematology (ASH) Annual Meeting, detailing the latest developments in gene therapy for haemophilia A and B. these presentations highlighted clinical trial updates, preclinical data, various challenges in transitioning gene therapy to routine clinical practice, and emphasised the need for ongoing research to address challenges and improve patient access to these innovative treatments.

Read the full article here.

Von Willebrand Disease-Associated Angiodysplasia: Presentation of a Paediatric Case

This case report describes the complex management of recurrent gastrointestinal bleeding in a 14-year-old with Type 3 Von Willebrand disease (VWD) and duodenal angiodysplasia. This fascinating article describes the patient’s multiple hospitalisations and conventional treatments, including transfusions and endoscopic interventions, achieving long-term control of bleeding proved challenging, ultimately necessitating surgical intervention.

Read the full case report here

The Future of Gene Therapy for Haemophilia A and B: Innovative Treatment Management Strategies, Perspectives, and Updated Trial Results

In this meeting summary, multiple presentations regarding gene therapy use for treatment of haemophilia are discussed. The talks delve into current standards of care for haemophilia before giving an update on the latest developments in the field, as well as the long-term outcomes of experimental gene therapy.

For more information, read the full meeting summary here.

Interview: Cynthia Dunbar

In an exclusive interview with EMJ, renowned haematologist Cynthia Dunbar elaborates on her extensive career in the field, as well as her various research projects regarding blood disorders. Dunbar gives insights into recent developments in blood disease treatment, along with advice for those entering the world of haematological research.

To read the full interview, click here.