A Review of the Management and Outcomes of Children With SMA in the West Midlands During 2017-2022
Robert Jones and Agnes Hunt Orthopaedic and District NHS Trust
30 participants
Dec 6, 2023
OBSERVATIONAL
Conditions
Summary
Spinal Muscular Atrophy (SMA) is a rare neuromuscular condition, characterised by loss of motor neurons as a result of a mutation in the survival motor neuron gene. This results in muscle wasting and in the most common and severe type, death before 24 months. Over the recent years there has been a dynamic shift in the therapeutic options for these patients involving both approved therapies, including gene therapy, and access to clinical trials in genetic modifying. As a result of this mortality and morbidity have changed particularly for the SMA type 1 population and therefore there is now a changing phenotype with many children needing interventions at different time points compared to the natural history. This review process is a retrospective review from 1st July 2017 - 30th June 2022, when most of the new drug therapies were being introduced, of all the children aged from 0-16 years in the West Midlands region and their outcomes.
Eligibility
Inclusion Criteria5
- Patient aged <16 years old as of 1st July 2017. (16 years old is the age in which patients typically start their transition process to adulthood - retrospective data collection will stop at the date in which the patient turned 16 years old, if this is before 30th June 2022).
- OR patient was born between 1st July 2017 - 30th June 2022.
- Genetically confirmed 5q SMA.
- Patients must have been under the care of the named Key Collaborative Site and Neuromuscular Service for their SMA anytime during 1st July 2017- 30th June 2022 and must have had at least two clinical reviews during this time.
- Deceased patients can be reviewed, as long as they met the eligibility criteria before their date of death.
Exclusion Criteria3
- Aged ≥16 years as of 1st July 2017.
- Genetically confirmed as having non-5q SMA or have no genetic confirmation of their diagnosis.
- Patient was not under the care of the named Key Collaborative Site and Neuromuscular Service for their SMA specialist care anytime during 1st July 2017 - 30th June 2022.
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Locations(2)
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NCT05994950