On Saturday, 17 October, the Vall d’Hebron Research Institute (VHIR) hosted the 8th Conference on Hereditary Hypomagnesemia, organised in collaboration with the Association for Information and Research on Familial Hypomagnesemia (HIPOFAM). The conference brought together patients, family members and professionals from different centres and autonomous communities to share experiences, review research advances and strengthen the ties between people affected by these rare diseases and the teams investigating them.

The event marked more than a decade of collaboration between HIPOFAM and VHIR, a relationship that has helped maintain contact between the patient community and research professionals. In the case of ultra-rare diseases, the geographical dispersion of affected individuals makes it difficult for them to meet in person and share experiences. Therefore, these annual conferences provide an opportunity to bring patients and researchers closer together, showcase the work being carried out and foster more direct and transparent communication.

“The conference allows us to share experiences with other patients and with the professionals working on these diseases, especially in a context in which there are very few cases and we are widely dispersed geographically. It is also an opportunity to learn about research advances, strengthen our confidence in the work being done and maintain the bond between the association, patients and research teams,” says Antonio Cabrera, president of HIPOFAM.

Update on research advances

The scientific programme covered different lines of research related to hereditary hypomagnesemia and other kidney disorders. The conference opened with introductory remarks by Antonio Cabrera, president of HIPOFAM, and Dr Gema Ariceta, Head of Paediatric Nephrology at Vall d’Hebron University Hospital and head of VHIR’s Renal Pathophysiology research group.

Dr Cristina Martínez, principal investigator of VHIR’s Renal Pathophysiology research group, and Julieta Torchia, a predoctoral researcher in the same group, presented advances in research into familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Next, Dr Sergio Milagros, from CIMA in Navarra, discussed gene therapy for kidney disease, while Dr Pedro Arango, from Sant Joan de Déu Hospital in Barcelona, presented updates on Gitelman syndrome and the GitelMatters project.

In this area, the collaboration established with the group led by Drs Rafael Aldabe and Sergio Milagros, researchers at CIMA in Navarra specialising in gene therapy, is particularly noteworthy. Sergio Milagros brings a particularly valuable perspective to this collaboration, as, in addition to his research work, he is also a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). This dual experience opens up new opportunities to advance the development of gene therapy strategies for this disease. In this context, the new mouse model developed by the research team provides an essential experimental platform for evaluating these therapeutic approaches in the future.

Following this presentation, several HIPOFAM projects were presented, allowing attendees to learn about the association’s initiatives and ensuring continuity in the exchange of information between patients and professionals.

The participation of professionals from other centres helped broaden the exchange of knowledge and experiences. In the case of Dr Sergio Milagros, this dual perspective is particularly relevant, as it combines his research work in renal gene therapies with his experience as a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

The conference also included a visit to VHIR’s facilities, guided by Dr Cristina Martínez, which allowed participants to gain first-hand insight into the environment in which the research is carried out.

Co-creation to incorporate patients’ voices into research

One of the central moments of the event was a co-creation workshop facilitated by VHIR’s Impact and Responsible Research and Innovation (RRI) team. The activity brought together patients and professionals to identify challenges and needs related to familial hypomagnesemia and Gitelman syndrome, and to encourage the exchange of knowledge and perspectives.

This initiative is part of the range of activities that VHIR makes available to research teams and patient associations to promote spaces for dialogue based on more equal relationships. The aim is to reduce barriers between different types of knowledge and prevent inequalities that may make it difficult to incorporate patients’ experiences into research processes.

“Co-creation allows us to create spaces where patients and professionals can meet and every voice is valued. We want to promote more equal relationships, jointly identify research challenges and help overcome the barriers that often separate scientific knowledge from the experiences of affected individuals,” explains Sara Mas, Head of Impact, Research and Innovation within VHIR’s Strategic Directorate.

This activity is part of the efforts to promote paediatric research at the Vall d’Hebron Barcelona Hospital Campus through the Paediatric Research Hub, which fosters collaboration among professionals, researchers and other stakeholders involved in improving children’s health.