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

Korábbi kezelés

• 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

Laborértékek

• 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®

Egyéb

• Patients with high risk of hydrocephalus
• Adult patients under guardianship
• Pregnant and/or breastfeeding females

• 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.