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

NCT04159987 | Active Not Recruiting DMC

• 1 other identifier: 19-PP-09
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 7

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).

Conditions

Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (1)

• 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)

  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.)

  at baseline, 1, 3, 7, 15 and 27 months

Secondary Outcomes (12)

• 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 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 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 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

Study Arms (1)

Spinal muscular atrophy patient

EXPERIMENTAL

Other: Spinraza intrathecal injection

Interventions

Spinraza intrathecal injection OTHER

The aim is to monitor the evolution of the Motor Function Measure-32 for SMA type II adult patients treated with SPINRAZA® (Nusinersen).

Spinal muscular atrophy patient

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (7)

CHU de Lyon

Lyon, Auvergne-Rhône-Alpes, 69677, France

Location

CHRU de Lille

Lille, Hauts-de-France, 59000, France

Location

CHU de Montpellier

Montpellier, Occitanie, 34090, France

Location

CHU de Toulouse

Toulouse, Occitanie, 31059, France

Location

Hopital de la Timone - APHM

Marseille, Provence-Alpes-Côte d'Azur Region, 13005, France

Location

CHU de Nice

Nice, Provence-Alpes-Côte d'Azur Region, 06000, France

Location

APHP

Paris, Île-de-France Region, 94000, France

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 4, 2019
• First Posted: November 12, 2019
• Study Start: February 25, 2020
• Primary Completion: July 19, 2024
• Study Completion: December 31, 2025
• Last Updated: December 3, 2025

Record last verified: 2025-11

Locations

FR (7)