Representatives from MDS patient associations, MDS experts and pharmaceutical companies’ representatives gathered in Frankfurt, Germany for two days at the Global Meeting that the MDS Alliance (MDSA) organizes every year. The MDSA is the sole MDS umbrella organization regrouping 42 patients’ associations worldwide.
Day One
The meeting covered the results from the 2024 Global Survey that the MDS Alliance conducted. The survey highlighted key challenges in diagnosis, treatment access, and patient education, leading to clinical trial decisions about improving future survey design. The last two sessions presented on novel treatments for MDS, including discussions about clinical trials and a new research project using a chatbot for monitoring patient symptoms and fatigue.
The meeting started with a presentation of the establishment of the MDS Alliance as a foundation and the roles of key individuals, Gereon and Debbie, as well as Jacqueline.
MDS Patient Survey Results Analysis
Blerina presented the results of the 2024 Global Survey The surveys, which had over 600 participants from 31 countries, revealed that 45% of patients did not know their MDS subtype, and there were significant delays in diagnosis. Key findings included the need for better education about MDS, improved access to care, particularly for younger patients, and increased support for caregivers. The survey also highlighted issues with appointment cancellations and a lack of involvement in treatment decisions for some patients. The importance of providing more information about fatigue and weight loss, as well as increasing participation in clinical trials and improving access to mental health services was emphasized. It was noted that only 10 % of the patients are receiving, Luspatercept, despite this treatment being classified a first line treatment.
Survey Optimization and Marketing Strategy
The group discussed limitations of their recent survey, which had over 70 questions and took too long to complete, leading to fatigue and potential bias. They agreed that future surveys should be shorter, ideally between 10-20 minutes, with a maximum of 25 questions, and potentially region-specific to improve participation and accuracy. The team also decided to improve their marketing strategy by using social media more effectively and involving patient organizations, while planning for the 2026 survey.
Challenges in the Balkans
Fisnik presented data on the challenges faced by MDS patients in the Balkan region, highlighting issues such as limited access to treatment, high costs, and a lack of specialized centers. He emphasized the need for more MDS country organizations, increased patient involvement in clinical trials, and better collaboration between doctors and patients. He also shared personal experiences with his father’s MDS diagnosis to illustrate the difficulties faced by patients in accessing treatment. The discussion touched on the importance of cultural and regional differences in MDS treatment and research, as well as the challenges of conducting surveys in different languages and political environments.
Novel treatments for myelodysplastic syndromes (Pr. Thomas Cluzeau)
Pr. Thomas Cluzeau, head of the hematology department in Nice University Hospital, France, presented on novel treatments for myelodysplastic syndromes (MDS), focusing on low-risk and high-risk MDS. For low-risk MDS, he discussed treatments for symptomatic anemia, including erythropoietic stimulating agents, luspatercept, and lenalidomide for specific subgroups. Thomas highlighted the positive results of clinical trials with luspatercept and Hypomethylating Agents (HMAs), noting their benefits in improving transfusion independence, response duration, and overall survival. For high-risk MDS, azacitidine remains the standard of care, with no significant improvements in outcomes observed in recent years. Thomas emphasized the need for personalized treatment approaches and ongoing research to optimize MDS therapy.
Advancing MDS Treatment Access
Thomas presented on high-risk MDS treatment, noting that azacitidine remains the standard of care since 2009, though intensive chemotherapy is only recommended before allogeneic stem cell transplantation for patients with increased blasts and favorable karyotype. He discussed recent clinical trials including CPI351, which showed promising results with fewer side effects, and highlighted that IDH1/2 inhibitors have shown significant benefits in specific subgroups (5-10% of patients) with median overall survival of 24 months, though access to these treatments varies by region. The discussion concluded that better coordination between physicians, patients, and regulatory authorities is needed to accelerate access to effective treatments, particularly for drugs that have completed Phase 3 trials but face delays in approval and access.
LUSPAMARK Trial Presentation Planning (Pr. Sophie Park, Philippe Jolivet)
The meeting focused on the Luspamark trial presentation, with Sophie and Philippe discussing their respective roles. The MDS Alliance is funding the chatbot component of the project, marking its first time funding a project of this nature.
MDS Fatigue Clinical Trial Design
Sophie presented a clinical trial design for evaluating fatigue in MDS patients treated with luspatercept, focusing on identifying biomarkers and assessing treatment-related fatigue. The trial, scheduled to begin in early 2026, will enroll 150 patients across five French centers and use a combination of plasma sampling, quality-of-life questionnaires, and an AI chatbot to monitor fatigue severity. Sophie highlighted that the trial aims to understand the relationship between fatigue and luspatercept treatment, with a particular focus on identifying metabolites and biomarkers associated with fatigue in asthenic patients.
The meeting focused on the chatbot component, monitoring patients’ fatigue. Philippe presented the chatbot’s capabilities, which include following up on symptoms, quality of life, and fatigue levels between medical visits in a secure, GDPR-compliant environment. The chatbot uses a secure instant messaging app and is being tested with simulated dialogues to calibrate its responses. Sophie explained the rationale for using metabolomic analysis to study fatigue in MDS patients. The team discussed the chatbot’s limitations, including its inability to learn from patient interactions once deployed and the need to manage patient expectations about the tool’s capabilities. Questions were raised about the timing of patient interactions and the potential for voice-based responses. The project aims to complement traditional patient-reported outcomes (PROs)with more frequent, less burdensome data collection.
Day Two
The meeting began with introductions from various MDS patient organizations worldwide, followed by a presentation on VEXAS syndrome, a newly recognized disease with overlap to MDS. The discussion covered Geron’s approved medication for low-risk MDS, Servier’s strategy in oncology and hematology, including their R&D pipeline and initiatives to engage with patient organizations and Alexion Germany introduced the company’s role in supporting rare disease patients. The conversation ended with presentations on a clinical trial investigating vitamin B5 for MDS patients and a discussion of challenges and strategies for patient organizations supporting individuals with MDS.
Global MDS Patient Advocacy Meeting
The meeting began with introductions from various representatives of MDS patient organizations worldwide, including Germany, France, the UK, Korea, and the Czech Republic. Debbie Hickler, representing MDS UK, shared her personal experience as a carer for her husband, who had MDS, and discussed the challenges faced by the organization, including the need for better access to treatments. The Korean representative highlighted their efforts in conducting surveys to understand patient experiences with blood transfusions. Amy Siana, representing a small Czech organization, explained their focus on providing patients with basic information about their disease and connecting them with hematologists.
VEXAS Syndrome: A New MDS Overlap
Dr. Lin-Pierre Zhao, St. Louis Hospital in Paris and is involved in MDS and Vexas research.
Lin-Pierre presented on VEXAS syndrome, a newly recognized disease with overlap to MDS, discovered in 2020 by a team at the NIH, US. He explained that VEXAS affects mainly male patients, causing systemic inflammation, blood disorders, and is characterized by mutations in the UBA1 gene. The presentation covered clinical features, diagnosis, and treatment approaches, noting that while there are some treatment guidelines, they are based on expert opinion rather than prospective data. The discussion concluded with a call for patient feedback and the need to develop new scales to measure disease burden, as current MDS scales may not be suitable for VEXAS patients.
The meeting focused on the challenges and efforts related to testing and increasing visibility for VEXAS syndrome, a rare condition. Lin-Pierre highlighted the need for international collaboration to gather more data, particularly on ethnicities other than those in France, and discussed the involvement of a patient, who is interested in contributing to future collaborations. MDS emphasized the importance of creating educational materials about VEXAS, such as a brochure, and proposed working with Lin-Pierre and rheumatologists to ensure accuracy and inclusivity of perspectives.
Servier’s Oncology and Hematology Strategy
Servier’s strategy in oncology and hematology was presented, highlighting their focus on rare cancers and targeted therapies. They discussed their R&D pipeline, including efforts to develop an IDH1 inhibitor for MDS patients. MDS also shared initiatives to engage with patient organizations at both local and global levels, including a new patient advisory council. The presentation concluded with a call for broader involvement of patient organizations in Europe and collaboration on market access efforts.
Alexion: Enhancing Patient Care Through LEAP
The meeting discussed the LEAP program, which aims to improve understanding of patient and caregiver experiences during hematopoietic stem cell transplantation (HSCT). The program involves interactive sessions where participants reflect on case studies like Joe’s, who experienced complications after her transplant. The discussion highlighted the importance of emotional support and patient education during the transplant process. The meeting also covered the challenges of funding patient organizations, with participants discussing the need for diverse sources of income beyond pharmaceutical companies.
Geron’s Telomerase Inhibitor for MDS
Nicole Weidner, Senior Director of Patient Advocacy at Geron, and Jeff Braziunas, Executive Director of Medical Capabilities, discussed Geron’s approved medication for low-risk myelodysplastic syndromes.
Nicole and Jeff presented an overview of Geron’s work on telomerase inhibition for treating blood cancers, focusing on their approved drug Imetelstat for low-risk myelodysplastic syndrome (MDS). They highlighted the drug’s mechanism of action, clinical trial results, and safety profile, emphasizing its ability to reduce transfusion needs and improve hemoglobin levels. The discussion included questions about the drug’s real-world effectiveness, its impact on different mutations, and potential side effects. Jeff explained that while imetelstat shows promise in reducing mutation burden, further studies are needed to understand its long-term effects and mechanisms of action.
The meeting focused on patient access to Imetelstat in Europe, with Jeff explaining that while a distribution agreement allows some EU patients to import the drug from the US, they are working on expanding access through named patient programs and health authority reimbursement proposals in major EU countries. The discussion included updates on compassionate use programs and clinical trials, with Jeff noting they are planning a low-risk MDS study to open next year.
Vitamin B5 MDS Clinical Trial
The meeting discussed a clinical trial investigating the use of vitamin B5 to treat low-risk MDS patients with SF3B1 mutations. The trial aims to demonstrate the effectiveness of high-dose vitamin B5 in improving hemoglobin levels and reducing transfusion dependence. The researchers have completed preclinical studies showing that vitamin B5 can rescue the differentiation of MDS patient cells in vitro. They plan to enroll 30 patients over two years at seven UK centers, with funding applications submitted to CIUK and BCUK. The trial will use a Bayesian approach with de-escalation, and the primary endpoint will be a rise in hemoglobin levels of at least 1.5 g/dL. The researchers are confident about patient recruitment despite strict inclusion criteria, as similar studies have successfully recruited patients with similar populations.
MDS Patient Support Challenges
The meeting focused on challenges and strategies for patient organizations supporting individuals with MDS (Myelodysplastic Syndromes). Key discussions included funding sustainability, with many organizations relying heavily on donations and legacies, and the need to engage patients’ families in fundraising efforts. There was consensus on the importance of clear and accessible information dissemination, particularly in non-medical language, and the need to adapt communication strategies to reach patients who may not have internet access. The group also addressed the challenges of balancing administrative tasks with patient-related activities and the importance of collecting and utilizing patient data for advocacy and research purposes, while respecting privacy concerns. Participants highlighted cultural differences in how MDS is perceived and treated across regions, emphasizing the need for tailored approaches in diverse geographic areas.
.
Thank you to the funders of the MDS Alliance Global Summit 2025
