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Record W4408531578 · doi:10.1016/j.gimo.2025.102870

P026: Interim analysis of the efficacy and safety of weekly intravenous tividenofusp alfa in mucopolysaccharidosis type II: A phase 1/2 study

2025· article· en· W4408531578 on OpenAlexaff
Barbara K. Burton, Joseph Muenzer, Paul Harmatz, Deepa Rajan, Simon Jones, Johanna van den Hout, John J. Mitchell, Matthew D. Troyer, Natalie Engmann, Rupa Caprihan, Akhil Bhalla, Imanol Zubizarreta, Arlette Weichert, Peter Chin, Carole Ho

Bibliographic record

VenueGenetics in Medicine Open · 2025
Typearticle
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsMcGill University Health CentreMontreal Children's Hospital
Fundersnot available
KeywordsInterim analysisInterimMedicineMucopolysaccharidosis type IIMucopolysaccharidosis type IPhase (matter)PharmacologyInternal medicineClinical trialChemistryPolitical scienceDiseaseEnzyme replacement therapy

Abstract

fetched live from OpenAlex

Introduction: Tividenofusp alfa is an investigational iduronate-2-sulfatase fusion protein engineered for CNS delivery to address cognitive and behavioral decline in mucopolysaccharidosis type II (MPS II; OMIM 309900) while optimizing somatic disease control.Methods: A single-arm, 24-week, phase 1/2 study (NCT04251026) with extension enrolled males ≤18 years with MPS II.Participants received 15 mg/kg tividenofusp alfa with or without prior dose escalation via weekly intravenous infusion.Biomarker endpoints included cerebrospinal fluid (CSF) heparan sulfate (HS), serum neurofilament light chain (NfL), and urine HS.Clinical endpoints included safety assessment, cognitive measures (Bayley Scales of Infant and Toddler Development, third edition [BSID-III]/Kaufman Assessment Battery for Children, second edition [KABC-II]), adaptive behavior, auditory brainstem responses, and abdominal imaging.Interim data from 1 March 2024, except serum NfL and urine HS (1 September 2023 cutoff), are summarized.Results: Participants (N=43) had a median (range) age of 4.7 (0.3-12.6) years; 93.0% were neuronopathic and 65.1% had prior enzyme replacement therapy (ERT).As expected for ERT, a majority reported infusion-related reactions, which were manageable and decreased in frequency over time.Mean CSF HS was reduced 90.9% from baseline to Week 24; reductions were sustained through Weeks 49 (-90.4%),104 (-91.1%) and 153 (-89.3%),all p<0.0001, most below the upper limit of the normal range.Mean urine HS was reduced 84.6% from baseline to Week 24; reductions were sustained through Weeks 49 (-86.5%),104 (-78.2%) and 129 (-80.1%),all p<0.0001.Serum NfL (geometric mean) was significantly reduced by Week 61 (-41.1%), with further reduction at Weeks 104 (-70.4%) and 129 (-81.5%;all within normal range), all p≤0.0001.As of the last visit, 67.6% of participants had improved/unchanged cognitive (BSID-III/ KABC-II) age equivalent scores relative to baseline, including nearly all participants aged <4 years at treatment initiation.Updated results will be presented.Conclusion: Treatment with tividenofusp alfa was well tolerated, resulted in substantial sustained reductions in CSF and urine HS, lowered serum NfL, and improved or unchanged cognitive (BSID-III/KABC-II) age equivalent scores in males ≤18 years with MPS II.

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)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Non-randomized trial · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.020

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.002
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0030.003
Bibliometrics0.0000.000
Science and technology studies0.0010.001
Scholarly communication0.0020.001
Open science0.0010.000
Research integrity0.0020.005
Insufficient payload (model declined to judge)0.0060.002

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 head0.053
GPT teacher head0.420
Teacher spread0.367 · 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 designNon-randomized trial
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".

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Citations0
Published2025
Admission routes1
Has abstractno

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