Related Experiment Video
Updated: Feb 28, 2026
06:55
Inverse Probability of Treatment Weighting Propensity Score using the Military Health System Data Repository and National Death Index
Published on: January 8, 2020
15.4K
A multi-source approach to determine SMA incidence and research ready population
Ingrid E C Verhaart1, Agata Robertson1, Rebecca Leary1
1John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Journal of Neurology
|June 22, 2017
Summary
Epidemiological data on spinal muscular atrophy (SMA) in Europe reveals an incidence of 1 in 3900-16,000 live births. Many SMA patients are not connected to specialist care, limiting research and treatment access.
Area of Science:
- Neurology
- Genetics
- Epidemiology
Background:
- Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterized by motor neuron degeneration and progressive muscle weakness, caused by SMN1 gene deletion.
- Existing epidemiological data for SMA is limited, often outdated, and geographically restricted.
- Accurate incidence and patient population data are crucial for understanding disease burden and facilitating clinical research.
Purpose of the Study:
- To determine the incidence of genetically confirmed spinal muscular atrophy (SMA) in Europe.
- To estimate the number of SMA patients accessible for clinical trials and observational studies.
- To identify potential gaps in healthcare access for SMA patients.
Main Methods:
- Utilized data from genetic laboratories across Europe (2011-2015).
- Integrated information from the TREAT-NMD Global SMA Patient Registry and the Care and Trial Sites Registry (CTSR).
- Analyzed genetic diagnoses and patient registry data to estimate incidence and patient accessibility.
Main Results:
- Over 4653 genetically diagnosed SMA patients were identified in Europe between 2011 and 2015.
- Estimated European SMA incidence ranges from 1 in 3900 to 1 in 16,000 live births.
- Patient numbers in registries were lower than expected, with most registered patients having SMA type II and residing in Europe.
Conclusions:
- Significant disparities exist in patient participation across national registries, indicating varying healthcare access.
- A substantial number of SMA patients may not be engaged with specialist healthcare services.
- This lack of engagement potentially limits patient access to crucial research opportunities and optimal care for spinal muscular atrophy.
More Related Videos
Related Concept Videos
01:25Statistical Methods for Analyzing Epidemiological Data
1.1K
Epidemiological data primarily involves information on specific populations' occurrence, distribution, and determinants of health and diseases. This data is crucial for understanding disease patterns and impacts, aiding public health decision-making and disease prevention strategies. The analysis of epidemiological data employs various statistical methods to interpret health-related data effectively. Here are some commonly used methods:
1.1K
01:25Strategies for Assessing and Addressing Confounding
489
Confounding is a critical issue in epidemiological studies, often leading to misleading conclusions about associations between exposures and outcomes. It occurs when the relationship between the exposure and the outcome is mixed with the effects of other factors that influence the outcome. Given that, addressing confounding is of high importance for drawing accurate inferences in research.
Confounding can be addressed at both the design phase of a study and through analytical methods after data...
Confounding can be addressed at both the design phase of a study and through analytical methods after data...
489
01:20Sample Proportion and Population Proportion
6.9K
Collecting samples or responses from an entire population takes significant time and effort, so a researcher collects responses from only a sample of that population. Suppose a study needs to collect information about a specific mobile application. After sample collection, the researcher analyzes the data and discovers that most individuals in the sample use that specific mobile application. The sample proportion measures the number of individuals in a sample who either use or don't use the...
6.9K
01:16Stratified Sampling Method
15.8K
Sampling is a technique to select a portion (or subset) of the larger population and study that portion (the sample) to gain information about the population. The sampling method ensures that samples are drawn without bias and accurately represent the population. Because measuring the entire population in a study is not practical, researchers use samples to represent the population of interest.
To choose a stratified sample, divide the population into groups called strata and then take a...
To choose a stratified sample, divide the population into groups called strata and then take a...
15.8K
01:23Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
503
Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
503
01:18Steps in Outbreak Investigation
644
In the ever-evolving field of public health, statistical analysis serves as a cornerstone for understanding and managing disease outbreaks. By leveraging various statistical tools, health professionals can predict potential outbreaks, analyze ongoing situations, and devise effective responses to mitigate impact. For that to happen, there are a few possible stages of the analysis:
644