Euro-HSP as a Driver of Therapy Development

Euro-HSP 4 Cure

What is the project about?

Translating basic research into interventional clinical trials requires not only strong networks of expertise but also substantial financial resources. In the field of rare diseases, such initiatives are therefore rarely driven by industry. The primary aim of this project is to establish the foundations needed to overcome these challenges in the future.

A key objective is to build the motivation, organisational structures, and capacity within patient communities to enable the coordinated mobilisation of funding—such as through charitable donations—over the coming years, extending well beyond the lifetime of the project. To achieve this, the project places a strong emphasis on outreach, engagement, and communication within the patient community, ranging from personal conversations to web-based platforms and other communication channels.

What is the goal of the project?

Several national member organisations of Euro-HSP—associations dedicated to advancing research on Hereditary Spastic Paraplegia (HSP)—already support research at the Institute of Molecular Biology and Pathology (IBPM) through charitable donations. This research focuses on preparing future clinical trials, particularly through the development of biomarkers that enable the objective assessment of treatment efficacy.

Building on this work, the project aims to develop the scientific foundations for a first pilot clinical trial to evaluate a potential therapeutic compound. On the clinical side, the project is supported by Prof. Carlo Casali through the IBPM network and Prof. Stephan Klebe from the University Hospital Essen via the German treatHSP network. Through IBPM, initial contact has also been established with Takeda Oncology, the manufacturer of Pevonedistat, a drug that has shown promising results in cellular models.

A central objective of the project is to bring together clinicians, cell biologists, and patient representatives in a dedicated workshop to co-develop the concept for a pilot clinical study. The meeting aims to produce a first draft of a study protocol, including clearly defined safety and efficacy endpoints. This will provide the basis for further study planning and facilitate concrete discussions with the industry partner, Takeda. In the field of rare diseases, the early involvement of patient organisations is a key factor in ensuring the successful recruitment of participants for clinical trials.

Who participates in the project?

Patient organisations: Austrian HSP Association (stopp-HSP); Europe-wide coordination through Euro-HSP.
Basic researchers: Institute of Molecular Biology and Pathology (IBPM), National Research Council of Italy (Consiglio Nazionale delle Ricerche, CNR).
Clinicians: Prof. Carlo Casali, Lazio Hospital, Rome; Prof. Stephan Klebe, University Hospital Essen.

How are participants involved in the project?

Patient organisations: A kick-off meeting was held via Zoom on 11 May, bringing together all Euro-HSP member organisations and researchers from the Institute of Molecular Biology and Pathology (IBPM).
A management team was established to provide strategic leadership and coordinate the project. An in-person strategy meeting involving representatives of the national patient organisations is scheduled for 23 September.
Researchers: Regular coordination meetings are held with the management team. On 15 June, project representatives visited the IBPM to strengthen collaboration. The project also facilitates close collaboration between basic scientists and clinicians to support the planning of a future clinical trial.

How are participants recruited for the project?

The network originated from the first presentation of the Adolf Strümpell Prize for HSP Research in 2021, which was established by Euro-HSP. The project offers a unique opportunity to translate basic research into practical application with the support of people affected by HSP.

Project lead

Project Lead: PD Dr. Gerald Fischer

trenyq.svfpure@fgbcc-ufc.ng

Cooperation partners

stopp-HSP; Euro-HSP; Instituto di Bilogia e Patologia Moleculari Rom, Italien; Universitätsklinik Essen Deutschland