Active-NBS
Research type
Research Study
Full 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
IRAS ID
352785
Contact name
Laurent Servais
Contact email
Sponsor organisation
University of Oxford / Research Governance, Ethics and Assurance
Duration of Study in the UK
3 years, 8 months, 0 days
Research summary
Spinal muscular atrophy (SMA) is a genetic disease affecting the nerves and the muscles. The severity of SMA varies from a reduced life expectancy to milder forms in which the person has a normal lifespan and does not lose the ability to walk.
There are currently three treatments available for SMA: nusinersen, risdiplam and onasemnogene abeparvovec. The earlier treatments are given, the greater the benefit seen. For this reason, many countries often test for SMA at birth with routine newborn screening, though not in the UK at present. Other children are also tested shortly after birth if their older sibling is known to have SMA.
Clinical trials are evaluating new drugs which aim to help the muscles grow, called add-on therapies. At present the best time to give add-on therapies is not known. Two of the three treatments are not approved for use in these patients and a watch and wait plan is often used.
Active-NBS is a decentralised study to evaluate the muscle development of patients with SMA who are diagnosed at birth. Active-NBS will include babies from the routine SMA newborn screening planned in the UK. By using the wearable devices to track their development, we can help to inform at what point their movement diverges from the norm. In the UK we will track the progress of 30 participants with SMA between 4 months and 4 years (inclusion before 4 months possible) and 30 healthy control between 6 month and 4 years over a maximum of 30 months using wearable technologies which are worn at home. We want 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). Active-NBS will be conducted in the UK and internationally.
REC name
South Central - Berkshire Research Ethics Committee
REC reference
26/SC/0051
Date of REC Opinion
6 Mar 2026
REC opinion
Further Information Favourable Opinion