During the days of November 27, 28, and 29, the Collagen VI Italy APS Association, with Professor Paolo Bonaldo from the University of Padua and researcher Vittorie Cenni, participated in the Collagen VI International Research Summit in San Sebastián, Basque Country, Spain. This event marked a milestone as the first dedicated exclusively to Col6 in Europe.

More than 50 prominent participants, including researchers and doctors from around the world, gathered to share progress in the fight against this rare disease during two days of intense sessions. Global institutions such as NIH/NINDS, University College London, and Sant Joan de Déu Research Institute contributed with research findings, some yet to be published, emphasizing the importance and relevance of the meeting on a global scale.

The success of the summit was attributed to the support of local entities, including the Basque Government and its Department of Health (Osakidetza), through the Basque Foundation for Health Research and Innovation (Bioef); Provincial Council of Gipuzkoa; San Sebastián City Council, through the San Sebastián Development Society; and the Biogipuzkoa Health Research Institute.

The comprehensive program, excellent quality of discussions, and the atmosphere of optimism and collaboration were praised by participants, marking a new phase in CMD-Col6 research and highlighting the importance of unity in research and collaboration as keys to progress.

Advancing Research in Col6-CMD: A Pioneering Summit

Dr. Eduard Goñalons, Director científico, Fundación Noelia – Dec 2023

In a significant stride toward combatting Collagen VI-related congenital muscular dystrophies (Col6-CMD), the first Fundación Noelia Col6 International Summit, hosted recently in San Sebastian, Basque Country, Spain, has set a groundbreaking precedent. This landmark event, the first of its kind in Europe, convened over 50 hand-picked participants that included researchers and clinicians hailing from various corners of the globe, from the United States to Spain, the United Kingdom, France, Italy, Canada, Belgium, and Germany. Together, they came to share the latest advancements in the ongoing battle against this rare and challenging disease.

A Global Gathering of Expertise

Numerous representatives of world-renowned research institutions contributed their extensive experience and shared results, some of them so recent that they have not yet been published. It is worth noting that their collective contributions were so numerous that mentioning them all by name is only right: Among them were delegates from the NIH/NINDS, Johns Hopkins University, and the University of Utah (USA); University College London and the John Walton Muscular Dystrophy Research Centre (UK); the Institute of Myology and Sorbonne University (France); the Reine Fabiola University Hospital (Belgium); University of Montreal (Canada); University of Lübeck (Germany); University of Padova and the Institute of Molecular Genetics Luigi Luca Cavalli-Sforza (Italy). Notably, Spain was also well-represented, with delegates and researchers from the Sant Joan de Déu Research Institute, Robotics Institute UPC-CSIC, and the Hospital Sant Pau Research Institute in Barcelona; the Biogipuzkoa Health Research Institute in San Sebastian; and the Biobizkaia Health Research Institute in Bilbao. In addition to researchers, the summit saw the participation of Spanish clinicians from the Hospital de Donostia in San Sebastian and the Sant Joan de Déu Children’s University Hospital in Barcelona. Also, representatives from various patient advocacy groups across Europe and the United States, including Associazione Collagene VI Italia APS (Italy), CMD Turkey (Turkey), Muscular Dystrophy UK (UK), Deutsche Gesellschaft für Muskelkranke DSG (Germany), and CureCMD (USA), added
their valuable perspectives to the mix.

Key Discussions and Advancements

The summit’s agenda was diverse and comprehensive, encompassing the latest developments in Col6-CMD research. Key areas of focus included a deep dive into the disease’s biology to gain a better understanding of the underlying mechanisms, potentially leading to new therapeutic breakthroughs. Discussions also centered around consensus guidelines in clinical management, given the presence of both researchers and clinicians. Notably, a portion of the talks addressed the creation of models for testing potential treatments, such as 3D models of muscle tissue and the application of artificial intelligence for precise diagnostics and therapy evaluation. Furthermore, new molecular tools were
unveiled, enhancing the researcher’s toolkit for developing innovative gene therapy approaches. A significant portion of the summit was dedicated to the exploration of existing and upcoming therapies, with several groups showcasing their achievements at the cellular level. While clinical trials are still on the horizon, having a wide array of options is pivotal for advancing science towards a cure. The discussions held in each session were immensely enriching and prompted one-on-one interactions in discussion and networking slots allocated throughout the program. These interactive exchanges, involving speakers and moderators, shed light on virtually every aspect of Col6-CMD, reinforcing the importance of a comprehensive approach to tackle this intricate condition. A noteworthy moment was the emphasis placed on the need for these therapies to progress to clinical trials. For the first time in a scientific congress, the words “clinical trials” were uttered with profound significance, marking a crucial turning point in a long and arduous journey. While it is not the end of the road, it is undoubtedly a key milestone and material evidence that the concerted efforts directed toward research funding are bearing fruit.

State of the Art

In summary, without delving into the technical intricacies, it is clear that significant strides have been made in understanding the root causes of the disease and developing therapeutic approaches over the last few years. Research is active on nine different mutations identified across the three genes forming the collagen VI protein (COL6A1, COL6A2, and COL6A3), which cover the majority of genetic mechanisms causing the disease. Therapeutic approaches for these mutations are either proven to work in cellular studies or are in advanced development stages. Researchers have also created and characterized various mouse models for testing these therapies in vivo. Additionally, research is ongoing to refine delivery systems to ensure that gene therapies effectively reach the muscle fibroblasts producing Col6. Furthermore, considerable efforts are being devoted to identifying proper biomarkers, a critical puzzle piece for quantifying and unequivocally demonstrating the efficacy of these therapies. In sum, there is much to look forward to in the coming months, with numerous advances on the horizon. The discussions and connections forged at the summit represent just the beginning of ongoing efforts in laboratories and clinics worldwide. With a shared vision of hope and collaboration, the path ahead in rare disease research appears promising.

Building Bridges and Fostering Hope

It is particularly noteworthy that Fundacion Noelia succeeded in catalyzing the formation of a Research Consortium among three major Col6 research groups that have already obtained actionable results in the development of therapies, models, and delivery systems. This consortium aims to collaboratively expedite the progress of current therapeutic approaches to the clinical stage. Notably, the collaboration spans oceans, involving Dr. Carsten Bönnemann’s lab at the NIH/NINDS (USA), Dr. Francesco Muntoni’s lab and other colleagues at University College London (UK), and Dr. Jimenez-Mallebrera’s team at the Sant Joan de Déu Research Institute (Barcelona, Spain). Following a productive hands-on workshop that facilitated the exchange of profound insights and technical expertise, a joint task force emerged, ready to confront the disease head-on. It is certain that we will witness concrete breakthroughs in the near future.

Engaging Beyond Research

In addition to scientific discourse, the summit provided an opportunity for interactions with patient associations. This underscored the importance of a united global effort against rare diseases and fostered the creation of a collaborative network encompassing various countries. Finally, a visit to Viralgen (www.viralgenvc.com), a leading local biotech company, showcased the practical application of research findings, bridging the gap between scientific discovery and real-world solutions. The Columbus Foundation (www.fundacioncolumbus.org), associated to Viralgen, illustrated through real examples how gene therapies can be life-changing in practical terms.

Gratitude and Acknowledgment

The success of this event was made possible thanks to the generous support of several local sponsors. Their unwavering commitment to advancing rare disease research was instrumental in bringing this summit to fruition. These sponsors included the Basque Regional Government and its Health Department (Osakidetza), along with the Basque Foundation for Health Research and Innovation (Bioef); the Provincial Council of Gipuzkoa; the Donostia/San Sebastián City Hall; the Biogipuzkoa Institute for Health Research, which provided the facilities for the event; and Viralgen and the Columbus Foundation, who kindly hosted attendees on a tour of their state-of-the-art facilities. Additionally, we extend our heartfelt thanks to all those people who devoted their time and personal effort to the organization, dedicating countless hours to making this event truly invaluable.

In Conclusion

We can confidently ay that this summit was a resounding success on all fronts. The program was thorough, the quality of the discussions was exceptional, and the event earned unreserved praise from attendees. An atmosphere of optimism permeated the summit, and the spirit of collaboration was evident at every level. The closing remarks echoed a shared sentiment: unity in research and collaboration are the keys to progress. This event was not merely a meeting of minds but a unifying force for the Col6-CMD community, signaling a new phase in the journey toward effective treatments.