Clinical trial NCT04159987: Monitoring to the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA®
Official title: A Multicenter, Interventional, Open-label Study to Monitor the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA®
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Spinal Muscular Atrophy
Lead sponsor: Centre Hospitalier Universitaire de Nice
Sponsor class: OTHER
First posted: 2019-11-12
Enrollment: 20
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

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).


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 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 outcomes:
measure: 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)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
Secondary outcomes:
measure: 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)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: 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)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: 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)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: Change of the Fatigue Severity Scale (FSS) from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: Change of the Pinch and Grip test from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: 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)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: Change of the Revised Hammersmith Scale (RHS) from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: 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
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: 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
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: 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)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: 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)
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
measure: Change of the health Status from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27
timeFrame: at baseline, 1, 3, 7, 15 and 27 months
Other outcomes:
Locations:
city: Lyon
country: France
facility: CHU de Lyon
state: Auvergne Rhone Alpes
city: Lille
country: France
facility: CHRU de Lille
state: Hauts De France
city: Paris
country: France
facility: APHP
state: Ile De France
city: Montpellier
country: France
facility: CHU de Montpellier
state: Occitanie
city: Toulouse
country: France
facility: CHU de Toulouse
state: Occitanie
city: Marseille
country: France
facility: Hopital de la Timone - APHM
state: Provence Alpes Cote d'Azur
city: Nice
country: France
facility: CHU de Nice
state: Provence Alpes Cote d'Azur
Study officials:
References: