MétaCan
Menu
Back to cohort
Record W4415690129 · doi:10.1186/s13023-025-04064-w

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

2025· article· en· W4415690129 on OpenAlexaff
Karolina M. Stępień, Barbara K. Burton, Michael B. Bober, Philippe M. Campeau, Carolyn Ellaway, Kaustuv Bhattacharya, Nathalie Guffon, David A. Hinds, Abigail Hunt, Alice Lail, Shuan‐Pei Lin, Martin Magner, Elaine Murphy, Pascal Reisewitz, John J. Mitchell

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2025
Typearticle
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsMcGill University Health CentreCentre Hospitalier Universitaire Sainte-Justine
FundersBioMarin Pharmaceutical
KeywordsEnzyme replacement therapyHuman geneticsClinical trialQuality of life (healthcare)MEDLINE

Abstract

fetched live from OpenAlex

Abstract Background Mucopolysaccharidosis (MPS) IVA is a rare disease with substantial, multisystemic morbidity. We assessed real-world safety and effectiveness of the enzyme replacement therapy (ERT) elosulfase alfa in patients with MPS IVA in the multinational, observational Morquio A Registry Study (MARS) who initiated ERT in adulthood (aged ≥ 18 years). Methods Patients were enrolled between September 2014 and February 2022; urinary keratan sulfate (uKS), 6-minute walk test (6MWT) distance, forced expiratory volume in 1 s (FEV 1 ), forced vital capacity (FVC), EuroQoL-5D-5L (EQ-5D-5L) score, and safety were assessed during routine care. Results As of February 13, 2022, 90 patients who initiated ERT had enrolled (median exposure: 5.6 years; median age at first ERT: 27.8 years). Reductions from baseline in uKS levels were sustained over mean follow-up of 5.4 years (mean percent change: -52.9%; p < 0.0001). In patients with available data, mean change in 6MWT distance was + 15.8 m ( p = 0.3627) over a mean follow-up of 5.8 years. FEV 1 and FVC remained stable over mean follow-up of 5.3 years (mean change: 0.0 L for both). The mean change from baseline in EQ-5D-5L index score was + 0.1 after 1 year of treatment. Thirty-four patients (39.5%) had ≥ 1 adverse event (AE), 23 patients (26.7%) had ≥ 1 serious AE, and 10 (11.6%) had ≥ 1 drug-related AE (infusion-related reactions [ n = 3; 3.5%], pyrexia [ n = 2; 2.3%]). Eight deaths occurred; none were deemed treatment related. Conclusions Real-world data collected from MARS suggest that patients with MPS IVA who initiated ERT in adulthood remained stable over 7 years of follow-up. No new safety signals were identified.

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)0.003
metaresearch head score (Gemma)0.005
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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.017

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.005
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.017
GPT teacher head0.313
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
GenreEmpirical

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

Citations1
Published2025
Admission routes1
Has abstractyes

Explore more

Same venueOrphanet Journal of Rare DiseasesSame topicLysosomal Storage Disorders ResearchFrench-language works237,207