Established in 2001, the clinical research call of Fondazione Telethon in collaboration with the Unione Italiana Lotta alla Distrofia Muscolare (UILDM) is dedicated to funding projects on neuromuscular diseases, with a particular focus on improving patients’ daily lives. The initiative stems from a long-standing partnership with UILDM, which was also among the founding partners of Fondazione Telethon in 1990.
All proposals are rigorously assessed through an international peer review process led by clinicians with recognized expertise in neuromuscular disorders.
Over the years, this call has:
- Strengthened the Italian neuromuscular clinical network, fostering collaboration and knowledge-sharing among experts.
- Advanced clinical understanding of neuromuscular diseases.
- Enabled Italian centers to conduct clinical trials of innovative therapies.
- Promoted research on aspects of everyday life for patients and families, including caregiver burden, nutrition, and neuropsychological assessment.
- Facilitated the adoption of patient-centered care, with a holistic approach that prioritizes quality of life.
Thanks to this initiative, numerous diseases have been studied in depth. Duchenne muscular dystrophy has been the most frequently investigated, followed by Charcot-Marie-Tooth disease, glycogen storage diseases of muscle, and other subgroups of muscular dystrophies.
The program has also contributed to the development of a coordinated national network of neuromuscular centers, where clinicians collect patient data using standardized methods. This has been crucial to building international consensus on clinical trial design and standards of care, leading to the publication of clinical guidelines and numerous influential scientific papers.
Most importantly, patients have directly benefited from this program. The knowledge gained has improved clinical practice, expanded therapeutic opportunities, and laid the groundwork for innovative treatments aimed at changing the future of neuromuscular diseases.
