Spinal Muscular AtrophySMAIINCT04159987
Monitoring to the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA®
A study testing Spinraza intrathecal injection in people with Spinal Muscular Atrophy, run by Centre Hospitalier Universitaire de Nice at 7 sites in France.
Trial 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). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- Spinraza intrathecal injection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 7 sitesFrance
- Study dates
- 25 Feb 2020to 31 Dec 2025
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
7 sites in 1 country.
7 sites in 1 country
France7 sites
CHRU de Lille
Lille, Hauts-de-France, 59000
CHU de Lyon
Lyon, Auvergne-Rhône-Alpes, 69677
Hopital de la Timone - APHM
Marseille, Provence-Alpes-Côte d'Azur Region, 13005
CHU de Montpellier
Montpellier, Occitanie, 34090
CHU de Nice
Nice, Provence-Alpes-Côte d'Azur Region, 06000
APHP
Paris, Île-de-France Region, 94000
CHU de Toulouse
Toulouse, Occitanie, 31059
About this study
Official title: A Multicenter, Interventional, Open-label Study to Monitor the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA®
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
- Being tested
- Spinraza intrathecal injection
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Spinraza intrathecal injectionOther
The aim is to monitor the evolution of the Motor Function Measure-32 for SMA type II adult patients treated with SPINRAZA® (Nusinersen).
| Study group | Role | What they receive |
|---|---|---|
| Spinal muscular atrophy patient | Experimental | Not described Receives: Other: Spinraza intrathecal injection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.)
Measured: 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)
Force Vital Capacity (FVC%)will be measured in sitting position and optionally in lying position.
Measured: 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)
Maximal Inspiratory Pressure (MIP) will be measued in sitting position and optionally in lying position.
Measured: 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)
Maximum Expiratory Pressure (MEP) will be measured in sitting position and optionally in lying position.
Measured: 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)
The FSS is a unidimensional scale which focuses on the physical aspects of fatigue. It is a self-reported questionnaire developed to measure the impact of disabling fatigue on daily functioning. It covers several areas including physical, social, and cognitive effects. The FSS is a patient-reported outcome composed of 9-items with scores ranging from 1 = "strongly disagree" to 7 = "strongly agree".
Measured: 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)
The purpose of those tests is to measure the maximum isometric strength of the hand and forearm muscles when doing a grasping or a pinching action. The equipment required for the grip and the pinch tests is a calibrate dynamometer. The subject should be strongly encouraged to give a maximum effort. We record three trials for each hand, alternating hands with at least 30 seconds recovery between each effort. We keep the best result.
Measured: 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)
The r9HPT is a modification of the 9-Hole Peg test (9HPT) targeting endurance instead of motor function. The 9HPT is a brief, standardized, quantitative test of upper extremity function.
In r9HPT, participants performed 5 consecutive rounds of the 9HPT, without break, using the same and preferred hand. We will look at the change (ratio) in score between the last trial and the first trial, an increase in time needed to perform the test in consecutive rounds indicating the apparition of the muscle fatigability.
Measured: 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)
The RHS consisted of 36 items for very weak SMA 2 through to very strong SMA 3. With regards scoring, 33 items were graded on an ordinal scale of 0, 1, 2 (where 0 denotes the least level of ability/function progressing to the highest level of ability to achieve a score of 2), the remaining 3 items were scored 0, 1 (where 0 is unable and 1 was able to achieve). The maximum achievable score is 69.
Measured: 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
The Iowa Oral Performance Instrument (IOPI) is a means to quantify lip, tongue, and buccal strength using a validated tool with published ranges for normative data for lingual measurements
Measured: 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
The RULM is a validated measure and used only for patients with SMA that evaluates shoulder, wrist, and hand functions. It takes approximately 15 minutes to administer and requires a toolkit that is used to have the patient repeat specific tasks (eg, picking up a coin, bringing hand to mouth) with both arms. RULM is a scale of 19 scorable items; each item is scored from 0 to 2:
- 0=Unable
- 1=Able, with modification
- 2=Able, no difficulty The maximum score is 37 and the patients are scored on both upper limbs.
Measured: 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)
MUNIX is a neurophysiologic test which provide an index of functioning lower motor neurons in a muscle. MUNIX total score is calculated by adding the individual values of the 6 tested muscles (abductor pollicis brevis, abductor digiti minimi, first dorsal interosseous, deltoid, tibialis anterior and trapezius).
Measured: 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)
MUSIX is a neurophysiologic tests which provide an index of functioning lower motor neurons in a muscle. MUSIX is calculated by dividing MUNIX by the Compound Motor Action Potential (CMAP) amplitude, measured in 6 tested muscles (abductor pollicis brevis, abductor digiti minimi, first dorsal interosseous, deltoid, tibialis anterior and trapezius).
Measured: at baseline, 1, 3, 7, 15 and 27 months
Change of the health Status from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27
Health Status will be assessed using the question quality of Life in genetic Neuromuscular Disease (QoL-gNMD), specifically designed for patients with a slowly-progressive neuromuscular disease with genetic predominant muscular damage. The QoL-gNMD is splitted in 3 domains: "Impact of Physical Symptoms" (score from 0 to 19), "Self-perception" (score from 0 to 24) and "Activities and Social Participation" (score from 0 to 27).
Measured: at baseline, 1, 3, 7, 15 and 27 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Nov 2019
- Study start25 Feb 2020
- Primary completion19 Jul 2024
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NiceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04159987
- Sponsor's protocol ID
- 19-PP-09
- Acronym
- SMAII
- Status last verified
- Nov 2025
- First submitted
- 4 Oct 2019
- Last updated
- 3 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter, Interventional, Open-label Study to Monitor the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA®
- ClinicalTrials.gov ID
- NCT04159987
- Acronym / sponsor ID
- SMAII / 19-PP-09
- Conditions
- Spinal Muscular Atrophy
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 25 Feb 2020 (actual)
- Primary completion
- 19 Jul 2024 (actual)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 12 Nov 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Spinal muscular atrophy patient | Experimental | Other: Spinraza intrathecal injection |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (7 listed)
- 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.
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Spinraza intrathecal injectionThe aim is to monitor the evolution of the Motor Function Measure-32 for SMA type II adult patients treated with SPINRAZA® (Nusinersen). | Other | Spinal muscular atrophy patient |
Primary outcome
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.)
12 secondary outcomes
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)
Time frame: 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)
Time frame: 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)
Time frame: 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)
Time frame: 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)
Time frame: 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)
Time frame: 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)
Time frame: 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
Time frame: 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
Time frame: 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)
Time frame: 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)
Time frame: at baseline, 1, 3, 7, 15 and 27 months
Change of the health Status from Baseline (M0) to 1 month (M1), 7 months (M7), 15 months (M15) and 27 months (M27
Time frame: at baseline, 1, 3, 7, 15 and 27 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Dec 2025.
Related trials for Spinal Muscular Atrophy
Active, not recruitingPhase 4
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
Muscular Atrophy, Spinal
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingObservational study
A Study of Risdiplam in Participants With Type I and Type II Spinal Muscle Atrophy (SMA)
Spinal Muscle Atrophy
RecruitingPhase 3
A Study to Learn About the Investigational Drug Rinzimetostat (ORIC-944) in Patients With mCRPC Who Were Previously Treated With Abiraterone Acetate (Himalayas-1)
Metastatic Castration Resistant Prostate Cancer
Recruiting
Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Spinraza intrathecal injection in people with Spinal Muscular Atrophy, run by Centre Hospitalier Universitaire de Nice at 7 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 3 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome 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) (time frame: at baseline, 1, 3, 7, 15 and 27 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Dec 2025.