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Record W4413028410 · doi:10.1186/s13023-025-03904-z

Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol

2025· article· en· W4413028410 on OpenAlexafffundabout
Ian C. P. Smith, Yasmin Abusetah, Homira Osman, Alyssa Grant, Hanns Lochmüller, Hugh J. McMillan, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Stacey Lintern, Daria Wojtal, Kathryn Selby, Kednapa Thavorn, Jodi Warman‐Chardon

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMuscle Physiology and Disorders
Canadian institutionsOttawa Public HealthBC Children's HospitalUniversité de SherbrookeChildren's Hospital of Eastern OntarioUniversity of CalgaryMuscular Dystrophy CanadaUniversity of OttawaOttawa Hospital
FundersCanadian Institutes of Health ResearchCanada Foundation for InnovationCanada First Research Excellence FundCanada Research ChairsEuropean CommissionPhysicians' Services Incorporated FoundationMuscular Dystrophy CanadaGovernment of CanadaCanada Research Coordinating CommitteeUniversity of Ottawa
KeywordsRespondentQuality of life (healthcare)GerontologyDescriptive statisticsNeuromuscular diseaseMedicinePsychologyDiseaseNursing

Abstract

fetched live from OpenAlex

INTRODUCTION: Neuromuscular diseases (NMDs) are rare multisystem, genetic or acquired disorders causing weakness and/or sensory loss. It is essential for governments, insurance providers, and broader society to have a better understanding of the burden of illness of NMDs. Our goal is to assess the social and economic burden of Canadians living with NMDs, encompassing schooling and education achievement, health-related quality-of-life, and labour force participation and productivity. METHODS AND ANALYSIS: We will conduct a national, cross-sectional survey of individuals living with a NMD and their caregivers who are members of Muscular Dystrophy Canada and/or are patients within our national network of neuromuscular clinics. Surveys can be completed online or via telephone. The specific sub-sections of the questionnaire will differ based on respondent's profile, whether they are 1) a minor living with a NMD, 2) an adult living with a NMD, 3) an adult who is a caregiver for someone living with a NMD, or 4) an adult who both lives with a NMD and is a caregiver for someone with a NMD. We will use descriptive statistics to describe distributions and ranges of the social and economic measures. Pearson correlations for continuous data and Spearman rho for rank data will be used to detect the strength of association of socio-demographic factors, disease characteristics, and social and economic impacts of NMDs. ETHICS AND DISSEMINATION: The study protocol has been approved by the Ottawa Health Science Network Research Ethics Board (Protocol ID # 20210601-01H). This study will provide the overall impact of NMD on costs and health-related quality of life, disseminated via a series of manuscripts which will include both between- and within-NMD/NMD subtype comparisons. The data obtained will guide governmental policy development and inform patient organisation programs to deliver more effective supports to individuals and families affected by NMDs.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.038
metaresearch head score (Gemma)0.019
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Protocol · Consensus signal: Protocol
Teacher disagreement score0.053
Threshold uncertainty score0.199

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0380.019
Meta-epidemiology (narrow)0.0040.004
Meta-epidemiology (broad)0.0050.003
Bibliometrics0.0050.005
Science and technology studies0.0050.002
Scholarly communication0.0040.003
Open science0.0050.003
Research integrity0.0030.004
Insufficient payload (model declined to judge)0.0530.013

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.010
GPT teacher head0.305
Teacher spread0.296 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreProtocol

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations4
Published2025
Admission routes3
Has abstractyes

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