Spinal Muscular Atrophy (SMA)Active-NBS UKNCT07543003
An International Federated Model for Wearable-derived Remote Longitudinal Motor Monitoring in Young Children With Spinal Muscular Atrophy Compared With Healthy Controls: Active-NBS Study (UK)
An observational study of Spinal Muscular Atrophy (SMA), run by University of Oxford at 1 site in United Kingdom.
Trial summary
Active-NBS is a study to evaluate the muscle development of patients with spinal muscular atrophy (SMA) who are diagnosed at birth. Medicines have become available in the last decade, and many patients are treated very early. Treatments are most effective if used before the patient develops symptoms. Read more about this study
- Who is it for?
- Ages Up to 4 yearsHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy (SMA)
- How many people
- 90 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 May 2026to 31 Jul 2029
- Phase
- Observational
- 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 Up to 4 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: Participants residing in the UK
Who may be able to join
- Genetically confirmed SMA and number of SMN2 copies available
- a. Patients identified by NBS and treated with disease modifying therapy (DMT)
- (2)a,i 4 copies or more of SMN2 and not treated with DMT
- (2)a,ii less than 4 copies of SMN2 and not treated with DMT
- or
- (2)b. Patients diagnosed due to a sibling or alternative means
Show all 13Show fewer
- (2)b,i 4 copies or more of SMN2 and not treated with DMT
- (2)b,ii less than 4 copies of SMN2 and not treated with DMT
- (3)Patients between 4 months and below 4 years at baseline. Inclusion of patients can be before 4 months of age
- (4)Parent(s)/legal guardian(s) able to provide written informed consent prior to the patient's participation in the study
- Typically developing child
- Participant between 6 months and 4 years at baseline
- Parent(s)/legal guardian(s) able to provide written informed consent prior to the participation in the study
Who cannot join
- Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
- (1)Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Active-NBS Joint Mailbox contact
United Kingdom1 site, 1 recruiting
- Recruiting
University of Oxford
Oxford, OX3 9DU
Charlotte Lilien, 01865618799, charlotte.lilien@paediatrics.ox.ac.uk
Joint inbox, active.nbs@paediatrics.ox.ac.uk
About this study
Official title: A Prospective, Longitudinal and Decentralised Study Investigating the Motor Development of Patients With Spinal Muscular Atrophy Identified by Newborn Screening Age 4 Years and Below: Active-NBS UK.
Active-NBS is a study to evaluate the muscle development of patients with spinal muscular atrophy (SMA) who are diagnosed at birth.
Medicines have become available in the last decade, and many patients are treated very early. Treatments are most effective if used before the patient develops symptoms. However, some patients may show symptoms by the time they receive treatment. This means that even with early diagnosis, they might still develop muscle weakness despite treatment. The investigators want to see when the movements of patients diagnosed at birth differ from normal development. This information will help identify the best time to give additional medicines currently being developed to support the muscle.
Read more
The investigators will track the progress of up to 60 patients over a maximum of 30 months using wearable technologies which are worn at home. The investigators aim to validate their outcomes for use in this age group. The wearable devices are called Syde and Motor Assessment of an Infant in a Jumpsuit (MAIJU).
They will be worn at regular intervals during the study and will not involve extra hospital visits for patients. The study will also recruit up to 30 healthy control participants and follow them for up to 30 months. This will help define normal development with use of the Syde device.
Active-NBS will be conducted in the UK and internationally using a federated data model. Collaborative sites will collect harmonised data in accordance with the Active-NBS protocol, with data integration and oversight managed by the University of Oxford. International sites may contact the Oxford study team to establish collaboration.
- Conditions
- Spinal Muscular Atrophy (SMA)
- Keywords
- Spinal muscular atrophy, Newborn screening, Motricity, Development
- 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.
| Study group | Role | What they receive |
|---|---|---|
| Test cohort | Children with spinal muscular atrophy, identified by newborn screening and treated with DMT or diagnosed after birth due to affected sibling and treated with DMT or 4 copies of SMN2 and not treated. Patients between 4 months and 4 years at the baseline visit, inclusion of patients can be before 4 months of age. | |
| Control cohort | Typically developing children below 4 years of age between 6 months and 4 years of age at baseline. |
What is being measured
The primary outcome is the main question the study is designed to answer.
To validate clinical outcome measures in patients with SMA from 4 months of age.
Outcome measures are the Baba Infant Motor Score (BIMS) in the MAIJU to assess motor development. And Stride Velocity 95th Centile (SV95C) in the Syde to assess stride velocity distribution.
Measured: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.
Secondary outcomes (2)
To identify and quantify motor developmental delay (Test Cohort).
Assessment of BIMS from MAIJU until the acquisition of ambulation, then SV95C from Syde.
Measured: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.
To identify the earliest time-point of future motor impairment (Test cohort).
Assessment of BIMS from MAIJU until the acquisition of ambulation, then SV95C from Syde.
Measured: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Apr 2026
- Study start1 May 2026
- Primary completion31 Jul 2029 (estimated)
- Study completion31 Jul 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy (SMA)Studies of the same condition, open and under way.
- More trials run by University of OxfordThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Oxford
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07543003
- Sponsor's protocol ID
- Active-NBS
- Acronym
- Active-NBS UK
- Status last verified
- Oct 2026
- First submitted
- 20 Aug 2025
- Last updated
- 2 Nov 2026
- 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 2 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Longitudinal and Decentralised Study Investigating the Motor Development of Patients With Spinal Muscular Atrophy Identified by Newborn Screening Age 4 Years and Below: Active-NBS UK.
- ClinicalTrials.gov ID
- NCT07543003
- Acronym / sponsor ID
- Active-NBS UK / Active-NBS
- Conditions
- Spinal Muscular Atrophy (SMA)
- Keywords
- Spinal muscular atrophy, Newborn screening, Motricity, Development
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- University of OxfordUniversity, hospital or other
- Study start
- 1 May 2026 (actual)
- Primary completion
- 31 Jul 2029 (estimated)
- Study completion
- 31 Jul 2029 (estimated)
- First posted
- 21 Apr 2026 (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.
Active-NBS is a study to evaluate the muscle development of patients with spinal muscular atrophy (SMA) who are diagnosed at birth.
Medicines have become available in the last decade, and many patients are treated very early. Treatments are most effective if used before the patient develops symptoms. However, some patients may show symptoms by the time they receive treatment. This means that even with early diagnosis, they might still develop muscle weakness despite treatment. The investigators want to see when the movements of patients diagnosed at birth differ from normal development. This information will help identify the best time to give additional medicines currently being developed to support the muscle.
The investigators will track the progress of up to 60 patients over a maximum of 30 months using wearable technologies which are worn at home. The investigators aim to validate their outcomes for use in this age group. The wearable devices are called Syde and Motor Assessment of an Infant in a Jumpsuit (MAIJU).
They will be worn at regular intervals during the study and will not involve extra hospital visits for patients. The study will also recruit up to 30 healthy control participants and follow them for up to 30 months. This will help define normal development with use of the Syde device.
Active-NBS will be conducted in the UK and internationally using a federated data model. Collaborative sites will collect harmonised data in accordance with the Active-NBS protocol, with data integration and oversight managed by the University of Oxford. International sites may contact the Oxford study team to establish collaboration.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Test cohort | – | –Children with spinal muscular atrophy, identified by newborn screening and treated with DMT or diagnosed after birth due to affected sibling and treated with DMT or 4 copies of SMN2 and not treated. Patients between 4 months and 4 years at the baseline visit, inclusion of patients can be before 4 months of age. |
| Control cohort | – | –Typically developing children below 4 years of age between 6 months and 4 years of age at baseline. |
Who may qualify
- Ages
- Up to 4 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- Participants residing in the UK
Key inclusion criteria (13 listed)
- Genetically confirmed SMA and number of SMN2 copies available
- a. Patients identified by NBS and treated with disease modifying therapy (DMT)
- (2)a,i 4 copies or more of SMN2 and not treated with DMT
- (2)a,ii less than 4 copies of SMN2 and not treated with DMT
- or
Key exclusion criteria (2 listed)
- Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
- (1)Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To validate clinical outcome measures in patients with SMA from 4 months of age.
Time frame: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.
Outcome measures are the Baba Infant Motor Score (BIMS) in the MAIJU to assess motor development. And Stride Velocity 95th Centile (SV95C) in the Syde to assess stride velocity distribution.
2 secondary outcomes
To identify and quantify motor developmental delay (Test Cohort).
Time frame: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.
To identify the earliest time-point of future motor impairment (Test cohort).
Time frame: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 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 2 Nov 2026.
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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.
Active-NBS Joint Mailbox contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy (SMA), run by University of Oxford at 1 site in United Kingdom.
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 13 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 2 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. 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?
Contact Charlotte Lilien (01865618799, charlotte.lilien@paediatrics.ox.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To validate clinical outcome measures in patients with SMA from 4 months of age. (time frame: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 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 2 Nov 2026.