Monitoring to the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA®

A Multicenter, Interventional, Open-label Study to Monitor the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA®

SPINRAZA® (Nusinersen) is the first intrathecal administered drug which was approved by the FDA to treat SMA children and adults (2016). The aim is to monitor the evolution of the Motor Function Measure-32 for SMA type II adult patients treated with SPINRAZA® (Nusinersen).

Inclusion Criteria:

• Adult patients with SMA type II disease who are wheelchair bound,
• Must be 18 years or older,
• Men or Women with SMA type II disease (age at symptoms onset: >6 months old and who never acquired the capacity to walk but acquired the ability to sit without support) with genetic confirmed diagnosis of 5q SMA homozygous gene deletion (SMN1 exon 7/8) or mutation or compound heterozygous mutation - performed by PCR amplification and restriction digest of DNA using primers flanking SMN1 and SMN2 exon 7.
• MFM 32 score ≥ 19/96
• Lumbar CT scan showing the feasibility of intrathecal injection.
• Written informed consent from the subject prior to initiation of any study-mandated procedures
• Females of childbearing potential must have a negative pregnancy test at Screening and at Enrollment, must agree to use reliable method of contraception (if sexually active) from screening up to study drug discontinuation plus 180 days.

Exclusion Criteria:

• Patients with a high risk for thrombocytopenia or hemorrhage or renal diseases: Urine protein, platelet count and coagulation tests will be done prior to intrathecal injection with SPINRAZA®
• Patients with high risk of hydrocephalus
• Adult patients under guardianship
• Pregnant and/or breastfeeding females
• Subject has received any investigational therapy or pharmacological treatment for SMA one month prior the beginning of the study
• Subject has received gene therapy for SMA