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

Centre Hospitalier Universitaire de Nice

Status

Completed

Conditions

Spinal Muscular Atrophy

Treatments

Other: Spinraza intrathecal injection

Study type

Interventional

Funder types

Other

Identifiers

NCT04159987

19-PP-09

Details and patient eligibility

About

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).

Enrollment

20 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

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