A Review of the Management and Outcomes of Children With SMA in the West Midlands During 2017-2022
1 other identifier
observational
30
1 country
2
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Dec 2023
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
July 18, 2023
CompletedFirst Posted
Study publicly available on registry
August 16, 2023
CompletedStudy Start
First participant enrolled
December 6, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2024
CompletedStudy Completion
Last participant's last visit for all outcomes
December 31, 2024
CompletedApril 12, 2024
April 1, 2024
1.1 years
July 18, 2023
April 11, 2024
Conditions
Keywords
Outcome Measures
Primary Outcomes (4)
Mortality Rate
The percentage of patients that passed away between 1st July 2017 - 30th June 2022
5 years
Change in Children's Hospital Of Philadelphia Infant Test Of Neuromuscular Disorders (CHOP INTEND) score between 1st July 2017 - 30th June 2022
Assessing whether the introduction of SMA specific treatment resulted in a change in the CHOP INTEND score over this 5 year period.
5 years
Change in Hammersmith Infant Neurological Examination (HINE) score between 1st July 2017 - 30th June 2022
Assessing whether the introduction of SMA specific treatment resulted in a change in the HINE score over this 5 year period.
5 years
Ethnicity
To evaluate whether the patient's ethnicity has an effect on the patient's physical and clinical outcomes.
5 years
Eligibility Criteria
It is important to the methodology of the study that all SMA diagnosed patients known to the services during the timeframe are included in the data collection to evaluate the West Midlands appropriately. The study plans to include a minimum of 30 patients, although the complete patient population known to the service during July 2017- June 2022 that meet the eligibility criteria will be included.
You may qualify if:
- 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.
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (2)
Birmingham Heartlands Hospital
Birmingham, Shropshire, B9 5SS, United Kingdom
The Robert Jones and Agnes Hunt Orthopaedic Hospital
Oswestry, Shropshire, SY10 7AG, United Kingdom
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER GOV
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
July 18, 2023
First Posted
August 16, 2023
Study Start
December 6, 2023
Primary Completion
December 31, 2024
Study Completion
December 31, 2024
Last Updated
April 12, 2024
Record last verified: 2024-04
Data Sharing
- IPD Sharing
- Will not share
The anonymised data set and findings may be reported and disseminated through peer reviewed scientific journals and conference reports. No identifiable data will be used at the time of publication, or throughout the analysis of the data. The anonymised data set may be requested by other researchers with appropriate ethical approval.