Ireland
--:--IST
Active, not recruiting Not applicable

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

NCT04159987 · tracked via the Priya Life Science France tracker
Phase
Not applicable
Started
2020-02-25
Last updated
2025-12-03

Condition(s) studied

Spinal Muscular Atrophy

Investigational drug(s) / intervention(s)

Spinraza intrathecal injection

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

Study 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).

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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

Primary outcome measure(s)

  • 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) — 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.)

Trial sites (7)

FacilityCityRegionStatus
CHU de Lyon Lyon Auvergne-Rhône-Alpes
CHRU de Lille Lille Hauts-de-France
CHU de Montpellier Montpellier Occitanie
CHU de Toulouse Toulouse Occitanie
Hopital de la Timone - APHM Marseille Provence-Alpes-Côte d'Azur Region
CHU de Nice Nice Provence-Alpes-Côte d'Azur Region
APHP Paris Île-de-France Region
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04159987 on ClinicalTrials.gov ↗ ← All trials in France