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

Centre Hospitalier Universitaire de Nice7 sites in 1 country20 target enrollmentFebruary 25, 2020

ConditionsSpinal Muscular Atrophy

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Spinal Muscular Atrophy
Sponsor: Centre Hospitalier Universitaire de Nice
Enrollment: 20
Locations: 7
Primary Endpoint: Change of the Motor Function Measure-32 (MFM-32) from Baseline (M0) to 1 month (M1), 3 months (M3), 7 months (M7), 15 months (M15) and 27 months (M27)
Status: Active, not recruiting
Last Updated: 5 months ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

Brief Summary

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).

Registry

clinicaltrials.gov

Start Date

February 25, 2020

End Date

December 31, 2025

Last Updated

5 months ago

Study Type

Interventional

Study Design

Single Group

Sex

All

Investigators

Sponsor

Centre Hospitalier Universitaire de Nice

Responsible Party

Sponsor

Eligibility Criteria

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
•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

Outcomes

Primary Outcomes

Change of the Motor Function Measure-32 (MFM-32) from Baseline (M0) to 1 month (M1), 3 months (M3), 7 months (M7), 15 months (M15) and 27 months (M27)

Time Frame: at baseline, 1, 3, 7, 15 and 27 months

Within MFM-32, 32 terms will be evaluated to describe patient's motor functions and grouped into 3 sub-scores at baseline (M0), M1, M3, M7, M15 and M27: * D1: standing position and transfer * D2: axial and proximal motor function * D3: distal motor function The MFM-32 ratings rely on the use of a 4-point Likert scale based on the subject's maximal abilities without assistance (0: cannot initiate the task or maintain the starting position; 1: performs the task partially; 2: performs the task incompletely or imperfectly; 3: performs the task fully and normally.)

Secondary Outcomes

Change of the health Status from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27(at baseline, 1, 3, 7, 15 and 27 months)
Change of the Revised Upper Limb Module (RULM) from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27(at baseline, 1, 3, 7, 15 and 27 months)
Change of the pulmonary function, specially Force Vital Capacity (FVC%), from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)(at baseline, 1, 3, 7, 15 and 27 months)
Change of the pulmonary function, specially Maximum Expiratory Pressure (MEP) from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)(at baseline, 1, 3, 7, 15 and 27 months)
Change of the pulmonary function, specially Maximal Inspiratory Pressure (MIP) from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)(at baseline, 1, 3, 7, 15 and 27 months)
Change of the Fatigue Severity Scale (FSS) from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)(at baseline, 1, 3, 7, 15 and 27 months)
Change of the Pinch and Grip test from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)(at baseline, 1, 3, 7, 15 and 27 months)
Change of the Repeated nine-hole peg test (r9HPT) from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)(at baseline, 1, 3, 7, 15 and 27 months)
Change of the Revised Hammersmith Scale (RHS) from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)(at baseline, 1, 3, 7, 15 and 27 months)
Change of the Electrophysiological assessment, specially Motor Units Size Index (MUSIX), from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)(at baseline, 1, 3, 7, 15 and 27 months)
Change of the Iowa Oral Performance Instrument (IOPI) from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27(at baseline, 1, 3, 7, 15 and 27 months)
Change of the Electrophysiological assessment, specially Motor Unit Number Index (MUNIX), from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)(at baseline, 1, 3, 7, 15 and 27 months)