How a new study on rare disease advocacy groups reinforces the core mission of the European CMT Federation to bridge patients, clinicians, and researchers.
Key Takeaways for Patient Organisations
Widespread Involvement: 65.7% of rare disease advocacy groups engage in research, primarily through patient registries and social impact studies.
The “Constrained Co-Production” Barrier: Most groups are limited to supportive roles (like trial recruitment) rather than strategic decision-making or protocol design.
ECMTF Action: ECMTF is empowering member organizations with training, harmonized registries, and structured representation in European research networks.
Patient advocacy groups (PAGs) in the rare disease sector have evolved far beyond mutual support networks. Today, they are key drivers of scientific knowledge, clinical trial feasibility, and policy reform.
A new empirical study by Jan Domaradzki and Dariusz Walkowiak, published in the peer-reviewed journal BMC Health Services Research, offers a comprehensive look at the research engagement of 64 rare disease patient advocacy groups in Poland. The study, titled “Research engagement of rare disease patient advocacy groups in Poland: between participation and constrained co-production”, sheds light on the actual capacities, contributions, and structural obstacles faced by patient-led organizations—findings that mirror the reality across Europe and resonate directly with the mission of the European CMT Federation (ECMTF).
1. What the Research Shows: High Potential, Restricted Scope
The study indicates that while the desire and activity levels among rare disease patient advocacy groups are high, their involvement remains heavily concentrated in non-clinical areas:
Reported regular or occasional involvement in scientific research projects.
Actively translate scientific language and share trial outcomes with patient communities.
Initiate or collaborate on studies measuring patient burden and unmet healthcare needs.
Lead or co-manage patient data platforms vital for understanding natural disease history.
The Clinical Gap & Major Barriers
Despite active participation in observational and social research, participation in clinical research remains mostly supportive: 39.1% assist in patient recruitment for trial sponsors, and 28.1% provide logistical/informational help to clinical trial participants. However, only 18.8% participate in trial design or endpoint selection, and just 7.8% have initiated clinical trials.
The primary bottlenecks holding advocacy groups back include:
Funding Constraints (42.2%): Lack of stable budgets to hire dedicated scientific officers or fund projects.
Human Resource Limits (37.5%): Reliance on volunteers and overworked family caregivers.
Limited Influence on Research Agendas (54.7%): Being treated as a source of patient data rather than equal strategic partners.
2. The Concept of “Constrained Co-Production”
“Rare disease patient advocacy groups function as essential knowledge brokers, yet they operate under a model of constrained co-production—formally included, but insufficiently integrated into core decision-making.”
The authors emphasize that moving from tokenistic involvement (“tick-the-box” consultation) to true co-production requires a structural shift. Researchers, pharmaceutical sponsors, and institutions must establish standardized collaboration frameworks that invite patient experts into research governance from day one.
3. Connecting Findings to the ECMTF Mission
The findings of this study validate the strategic vision of the European CMT Federation (ECMTF). As an umbrella federation representing Charcot-Marie-Tooth patient organizations across Europe, ECMTF works tirelessly to dismantle the barriers outlined in the BMC paper.
Equal Partnership in European Research
ECMTF advocates for the inclusion of patient experience knowledge in clinical trial protocols, ensuring endpoints reflect real-world priorities of individuals living with CMT.
Harmonized Patient Registries
Recognizing that data is key to trial readiness, ECMTF supports standardized, patient-centric CMT registries across member countries.
Capacity Building & Empowerment
ECMTF provides educational tools, webinars, and networking opportunities to build technical competencies within local member associations, helping them engage with researchers on equal footing.
Institutional Representation
Through collaboration with European Reference Networks (ERNs) and international research consortia, ECMTF elevates the patient voice from local volunteerism to structured European health governance.
Get Involved with ECMTF
Are you a patient, clinician, researcher, or representative of a CMT advocacy group? Together, we can build a strong, unified research ecosystem.
Original Publication Source
Citation: Domaradzki, J., & Walkowiak, D. (2026). Research engagement of rare disease patient advocacy groups in Poland: between participation and constrained co-production. BMC Health Services Research.
DOI: 10.1186/s12913-026-15202-w
