Type 2 Spinal Muscular AtrophyNatHis-SMANCT02391831
Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
A study testing Strength, function and activity measurements, Muscle MRI and Electrophysiology measurements in people with Type 2 Spinal Muscular Atrophy and Type 3 Spinal Muscular Atrophy, run by Institut de Myologie, France at 9 sites in 3 countries.
Trial summary
NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well… Read more about this study
- Who is it for?
- Ages 2 to 30 years
- Conditions the study is for
- Type 2 Spinal Muscular Atrophy, Type 3 Spinal Muscular Atrophy
- What is being tested?
- Strength, function and activity measurements, Muscle MRI and Electrophysiology measurements
- How many people
- 81 participants
- Where
- 9 sitesin 3 countries
- Study dates
- May 2015to Jun 2018
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 2 to 30 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Type 2 or 3 spinal muscular atrophy genetically confirmed
- Age superior or equal to 2 years old up to 30 years of age included
- For patients older than 6 years old, willing and able to comply with all protocol requirements and procedures.
- For non-ambulant patients, able to sit upright in a wheelchair for at least three hours
- Patients over 18 years of age and parent(s)/legal guardian(s) of patients < 18 years of age must provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation.
- In France only: Affiliated to or a beneficiary of a social security category
Who cannot join
- Previously treated with an investigational drug within 6 months prior the recruitment in this study.
- Other condition which may significantly interfere with the assessment of the SMA and is clearly not related to the disease
- Current or anticipated participation in any therapeutic investigational clinical studies.
- Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia, and others deemed to be prohibitive by the investigators) will be allowed to participate, but MRI will not be performed.
- For women : pregnancy or current breastfeeding
Trial locations and contacts
9 sites in 3 countries.
9 sites in 3 countries
France6 sites
Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant
Bron
Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro
Lille
Centre de référence Maladies Neuromusculaires Nantes-Angers - Hôtel Dieu
Nantes
I-Motion Institute - Trousseau Hospital
Paris
Neuropédiatrie - Service de Pédiatrie 1 - CHU Hautepierre
Strasbourg
Unité de neurologie pédiatrique - Hôpital des enfants
Toulouse
Belgium2 sites
Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven
Leuven
Centre de Référence neuromusculaire - CHR La Citadelle
Liège
Germany1 site
Universitätsklinikum Essen (AöR) - Klinik für Kinderheilkunde I - Sozialpädiatrisches Zentrum
Essen
About this study
NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well as determine the best outcome measures for further therapeutics approaches.
- Being tested
- Strength, function and activity measurements, Muscle MRI, Electrophysiology measurements, Blood sampling for biomarker analysis
- Keywords
- SMA, Spinal Muscular Atrophy, Neuromuscular disease
- Medical subject headings
- Spinal Muscular Atrophies of Childhood, Muscular Atrophy, Spinal, Neuromuscular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Strength, function and activity measurementsOther
Muscle MRIOther
Electrophysiology measurementsOther
Blood sampling for biomarker analysisOther
What is being measured
The primary outcome is the main question the study is designed to answer.
Change from baseline of muscle strength
Study-specific assessments: Grip and pinch strength
Measured: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of motor function
Study-specific assessments: Moviplate and MFM scores, upper extremity functional reaching volume, timed tests (time to rise from floor, time to walk 10 meters, time to climb and descend stairs, distance walked on the Six-Minute Walk Test)
Measured: Baseline and then every 6 months until end of the study, up to 24 months
Secondary outcomes (5)
Change from baseline of respiratory function
Study-specific assessments: Pulmonary function tests
Measured: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of physical activity of upper limbs movements
Quantity and duration of movements, time of inactivity during the day
Measured: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of skeletal muscle nuclear magnetic resonance (NMR) imaging (MRI)
Muscle volume changes, intramuscular fatty infiltration progression, indices of disease activity (only for Paris and Strasbourg sites and for patients older than 4 years)
Measured: Baseline and then every 12 months until the end of the study, up to 24 months
Change from baseline of electrophysiology measurements
Compound Motor Action Potential (CMAP) Amplitude and Decrement search
Measured: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of Biomarkers of SMA progression
SMN mRNA and protein analysis, SMA exploratory biomarkers (e.g. mRNA, DNA profiling, RNA profiling, proteomic profiling)
Measured: Baseline and then every 6 months until end of the study, up to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Mar 2015 (estimated)
- Study startMay 2015
- Primary completionJun 2018
- Study completionJun 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Type 2 Spinal Muscular AtrophyStudies of the same condition, open and under way.
- 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
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 81 participants (actual)
Sponsor and investigators
- Lead sponsor
- Institut de Myologie, France
- Sponsor type
- University, hospital or other
- Collaborators
- Institut Roche
- Responsible party
- Sponsor
- Investigators
- Laurent Servais, MD, Principal investigator, Association Institut de Myologie
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02391831
- Sponsor's protocol ID
- NatHis-SMA
- Other IDs
- IDRCB-2014-A01263-44
- Acronym
- NatHis-SMA
- Status last verified
- Jul 2018
- First submitted
- 2 Mar 2015
- Last updated
- 19 Jul 2018
- Results posted
- No
- Data monitoring committee
- No
Publications
Chabanon A, Seferian AM, Daron A, Pereon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One. 2018 Jul 26;13(7):e0201004. doi: 10.1371/journal.pone.0201004. eCollection 2018.
PubMed 30048507
Study at a glance
From the registry record, last updated by the sponsor on 19 Jul 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT02391831
- Acronym / sponsor ID
- NatHis-SMA / NatHis-SMA
- Keywords
- SMA, Spinal Muscular Atrophy, Neuromuscular disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 81 participants (actual)
- Lead sponsor
- Institut de Myologie, FranceUniversity, hospital or other
- Collaborators
- Institut Roche
- Study start
- May 2015
- Primary completion
- Jun 2018 (actual)
- Study completion
- Jun 2018 (actual)
- First posted
- 18 Mar 2015 (estimated)
- 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.
NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well as determine the best outcome measures for further therapeutics approaches.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
Who may qualify
- Ages
- 2 to 30 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- Type 2 or 3 spinal muscular atrophy genetically confirmed
- Age superior or equal to 2 years old up to 30 years of age included
- For patients older than 6 years old, willing and able to comply with all protocol requirements and procedures.
- For non-ambulant patients, able to sit upright in a wheelchair for at least three hours
- Patients over 18 years of age and parent(s)/legal guardian(s) of patients < 18 years of age must provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation.
Key exclusion criteria (5 listed)
- Previously treated with an investigational drug within 6 months prior the recruitment in this study.
- Other condition which may significantly interfere with the assessment of the SMA and is clearly not related to the disease
- Current or anticipated participation in any therapeutic investigational clinical studies.
- Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia, and others deemed to be prohibitive by the investigators) will be allowed to participate, but MRI will not be performed.
- For women : pregnancy or current breastfeeding
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 |
|---|---|---|
| Strength, function and activity measurements | Other | – |
| Muscle MRI | Other | – |
| Electrophysiology measurements | Other | – |
| Blood sampling for biomarker analysis | Other | – |
Primary outcome
Change from baseline of muscle strength
Time frame: Baseline and then every 6 months until end of the study, up to 24 months
Study-specific assessments: Grip and pinch strength
Change from baseline of motor function
Time frame: Baseline and then every 6 months until end of the study, up to 24 months
Study-specific assessments: Moviplate and MFM scores, upper extremity functional reaching volume, timed tests (time to rise from floor, time to walk 10 meters, time to climb and descend stairs, distance walked on the Six-Minute Walk Test)
5 secondary outcomes
Change from baseline of respiratory function
Time frame: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of physical activity of upper limbs movements
Time frame: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of skeletal muscle nuclear magnetic resonance (NMR) imaging (MRI)
Time frame: Baseline and then every 12 months until the end of the study, up to 24 months
Change from baseline of electrophysiology measurements
Time frame: Baseline and then every 6 months until end of the study, up to 24 months
Change from baseline of Biomarkers of SMA progression
Time frame: Baseline and then every 6 months until end of the study, up to 24 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jul 2018.
- Derived from this study: PubMed 30048507Chabanon A, Seferian AM, Daron A, Pereon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One. 2018 Jul 26;13(7):e0201004. doi: 10.1371/journal.pone.0201004. eCollection 2018.
Related trials for Type 2 Spinal Muscular Atrophy
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
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingPhase 2
A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy
Spinal Muscular Atrophy, SMA
Active, not recruitingPhase 3
Long-term Follow-up Study of Patients Receiving Onasemnogene Abeparvovec-xioi
Spinal Muscular Atrophy Type I, Spinal Muscular Atrophy Type II
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.
Laurent Servais, MD principal investigator
Association Institut de Myologie
9 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Strength, function and activity measurements, Muscle MRI and Electrophysiology measurements in people with Type 2 Spinal Muscular Atrophy and Type 3 Spinal Muscular Atrophy, run by Institut de Myologie, France at 9 sites in 3 countries.
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 6 inclusion and 5 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: finished, as of the sponsor's last update on 19 Jul 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in France, Belgium, Germany. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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 from baseline of muscle strength (time frame: Baseline and then every 6 months until end of the study, up to 24 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02391831, which also lists 1 linked publication.
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 19 Jul 2018.