A five-year program project aimed at creating a new therapeutic platform that combines innovative approaches to overcome the current limitations of gene therapy in rare neuromuscular diseases — most of which still lack an effective treatment. This is the focus of the new VIMM project funded by Fondazione Telethon and Fondazione Cassa di Risparmio di Padova e Rovigo (Fondazione Cariparo), with a total investment of €5.3 million.
Presented during a press conference held at VIMM on April 9, the project is based on a combined genetic approach focusing on three hereditary neuromuscular diseases that currently have no cure: Duchenne muscular dystrophy, spinal and bulbar muscular atrophy (also known as Kennedy’s disease), and mitochondrial myopathy caused by mutations in the Polg gene.
“The muscle is a particularly challenging organ to reach with gene therapy — that is, with all those innovative approaches designed to correct the genetic defect responsible for the disease,” explained Marco Sandri, Principal Investigator at VIMM. “Drawing inspiration from what is already showing promising results in multifactorial diseases such as cancer, diabetes, obesity, and autoimmune disorders, we will explore a combined approach for genetically based neuromuscular diseases — one that both preserves and promotes muscle fiber health, while simultaneously correcting the underlying genetic defect. We aim to achieve this goal using the most advanced tools currently available in biomedical research.”
The scientific component of the project, evaluated by an international expert committee and funded by Fondazione Telethon, will involve four VIMM research groups and will be coordinated by Marco Sandri (Laboratory of Molecular Pathophysiology of Skeletal Muscle), together with Carlo Viscomi (Laboratory of Mitochondrial Bioenergetics), Maria Pennuto (Laboratory of Neuromuscular Pathology), and Francesco Chemello (Laboratory of Neuromuscular Gene Editing).
The project will also be co-funded by Fondazione Cariparo, which will support additional VIMM research groups dedicated to developing cutting-edge technological platforms employed in the project, such as organoids, tissue biobanks, and bioinformatics analysis.
These groups will be coordinated by Bert Blaauw (Laboratory of Neuromuscular Physiology), Anna Urciuolo (Laboratory of Neuromuscular Engineering), Elena Pegoraro (Laboratory of Neuromuscular Clinical Research), and Cristina Mammucari (Laboratory of Calcium Homeostasis in Skeletal Muscle).
“At VIMM, several groups are dedicated to studying the mechanisms underlying neuromuscular and mitochondrial diseases — rare disorders for which, in most cases, no definitive treatment yet exists,” emphasized Celeste Scotti, Director of Research and Development at Fondazione Telethon. “These conditions often lead to severe symptoms that greatly affect patients’ lives and require comprehensive care. Padua has long been a major reference point for neuromuscular disease research, which is why we chose to invest in this special project that fosters collaboration among multiple researchers and leverages the expertise, technologies, and infrastructures of a cutting-edge institute like VIMM.”
“Research and innovation play a fundamental role in public health and form the foundation upon which the well-being of our communities rests,” concluded Gilberto Muraro, President of Fondazione Cassa di Risparmio di Padova e Rovigo.
“Scientific research has always been one of Fondazione Cariparo’s key strategic priorities, driven by the awareness that investing in this field means investing in the future of global health. VIMM and Fondazione Telethon are both outstanding institutions — and it was only natural for us to stand alongside them in our shared mission to advance research on rare neuromuscular diseases.”
