A Review of the Management and Outcomes of Children With SMA in the West Midlands During 2017-2022

Launched by ROBERT JONES AND AGNES HUNT ORTHOPAEDIC AND DISTRICT NHS TRUST · Aug 15, 2023

Keywords

ClinConnect Summary

This clinical trial is reviewing the management and outcomes of children with Spinal Muscular Atrophy (SMA) in the West Midlands over a five-year period, from July 2017 to June 2022. SMA is a rare condition that affects the nerves controlling muscles, leading to muscle weakness and, in severe cases, early death. Recently, new treatments, including gene therapy, have been developed, changing how we care for these children. The study aims to understand how these changes in treatment have affected the health and care needs of children with SMA, particularly those under the age of 16.

To be eligible for this review, children must be under 16 years old as of July 1, 2017, or born during the study period. They must also have a confirmed diagnosis of the 5q type of SMA and have received care from a specific neuromuscular service during the study time. Participants will not need to do anything special for the study; researchers will collect information from their medical records to assess how well treatments worked and how the children’s care needs have evolved. This research is important as it will help improve the understanding and management of SMA for future patients.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 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 Criteria:
• • 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.