Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

We would like to share our experience with the expanded access program (EAP) using Nusinersen in infants and children with type 1 Spinal muscular atrophy (SMA) in Italy. EAP is the use of an investigational new drug outside of a clinical trial in patients for the diagnosis, monitoring, or treatment of a serious disease or condition. EAP provides a pathway for patients to gain access to investigational drugs, biologics, and medical devices used to diagnose, monitor, or treat patients with serious diseases or conditions for which there are no comparable or satisfactory therapy options available outside of clinical trials. In the last year EAP has become available for a new drug, nusinersen, that has proved its efficacy in patients with SMA, an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene localized at the 5q11.2-q13.3. In our experience a strong partnership and collaboration between advocacy groups and clinicians helped to overcome several bottlenecks and established a format that may be used in other countries.