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)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Spinal Muscular Atrophy (SMA). Basic parameters: up to 4 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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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.
Overview
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.
Primary outcome measures
- 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.]
Secondary outcome measures (2)
- 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.]
Eligibility criteria
Inclusion criteria (Test cohort):
- 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
(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
(5)Male or female
Exclusion Criteria (Test cohort):
- Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
- Currently enrolled in an experimental treatment study
Inclusion criteria (Control):
- Typically developing child
- Participant between 6 months and 4 years at inclusion
- Parent(s)/legal guardian(s) able to provide written informed consent prior to the participation in the study
- Male or female
Exclusion criteria (Control):
(1)Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United Kingdom · 1 center
- University of Oxford — Oxford
Identifiers
NCT: NCT07543003 · Active-NBS