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Record W4415452228 · doi:10.1210/jendso/bvaf149.691

SUN-741 Bone Mineral Density in Adults With Hypophosphatasia With or Without History of Fractures

2025· article· en· W4415452228 on OpenAlexaff
Lothar Seefried, Priya S. Kishnani, Kathryn Dahir, Cheryl R. Greenberg, Keiichi Ozono, Gabriel Ángel Martos‐Moreno, Wolfgang Högler, Agnès Linglart, Anna Petryk, Shona Fang, Peter R. Ebeling

Bibliographic record

VenueJournal of the Endocrine Society · 2025
Typearticle
Languageen
FieldMedicine
TopicAlkaline Phosphatase Research Studies
Canadian institutionsUniversity of Manitoba
Fundersnot available
KeywordsHypophosphatasiaBone mineralLumbar spineLumbarOsteoporosisConfidence interval

Abstract

fetched live from OpenAlex

Abstract Disclosure: L. Seefried: Alexion, AstraZeneca Rare Disease. P.S. Kishnani: Alexion, AstraZeneca Rare Disease. K.M. Dahir: Alexion, AstraZeneca Rare Disease. C. Rockman-Greenberg: Alexion, AstraZeneca Rare Disease. K. Ozono: Alexion, AstraZeneca Rare Disease. G.A. Martos Moreno: Alexion, AstraZeneca Rare Disease. W. Högler: Alexion, AstraZeneca Rare Disease. A. Linglart: Alexion, AstraZeneca Rare Disease. A. Petryk: Alexion, AstraZeneca Rare Disease. S. Fang: Alexion, AstraZeneca Rare Disease. P.R. Ebeling: Alexion, AstraZeneca Rare Disease. Rationale: To describe prevalence of patients with bone mineral density (BMD) T-scores ≤−2.5 by age in adults with hypophosphatasia (HPP) with and without history of fracture (HoF). Methods: Fractures occurring before asfotase alfa treatment (or at any time in untreated patients) were analyzed in younger (aged 18-≤50 y) and older (aged >50 y) adults from the Global HPP Registry (data cut: June 2023). Dual X-ray absorptiometry (DXA) results within 12 months of fracture (or most recent DXA for patients without HoF) were deemed evaluable. Sites analyzed included lumbar spine, hip neck, and total hip. T-scores <−2.5 were interpreted as osteoporosis. BMD T-scores (median [min, max; n), difference in medians (DM), and 95% confidence intervals (CIs) are presented. Results: The study included 278 younger adults (106 with HoF) and 249 older adults (142 with HoF). In younger adults, 17 with HoF and 86 without HoF had an evaluable DXA. Median T-scores were within a normal range in younger adults, although they were lower for those with HoF vs those without HoF at the lumbar spine (−1.2 [−2.8, 1.2; n=13] vs 0 [−1.9, 2.3; n=75]; DM: −1.1; CI: −1.9, −0.4), hip neck (−1.4 [−2.6, 0.6; n=12] vs −0.4 [−2.4, 1.4; n=61]; DM: −0.8; CI: −1.4, −0.1), and total hip (−1.3 [−2.5, 0.4; n=11] vs −0.3 [−2.2, 1.7; n=53]; DM: −0.9; CI: −1.5, −0.3). Few younger adults with HoF had T-scores ≤−2.5 (lumbar spine: 1/13 [8%]; hip neck: 2/12 [17%]; total hip: 1/11 [9%]). No younger adults without HoF had T-scores ≤−2.5. Median age at DXA was 33.9 y in those with HoF and 37.9 y in those without HoF. In older adults, 16 with HoF and 56 without HoF had an evaluable DXA. Median T-scores were within a normal range in older adults and were similar between those with HoF vs those without HoF at the lumbar spine (−0.8 [−4.1, 3.8; n=16] vs −0.8 [−3.8, 5.4; n=51]; DM: −0.3; CI: −1.4, 0.9), hip neck (−1.5 [−3.7, −0.3; n=16] vs −1.4 [−3.5, 0.7; n=44]; DM: 0; CI: −0.6, 0.7), and total hip (−1.6 [−2.9, 0.5; n=13] vs −1.1 [−3.4, 1.7; n=38]; DM: −0.8; CI:−1.5, 0.1). The percent of patients with T-scores ≤−2.5 was similar between those with vs without HoF (lumbar spine: 4/16 [25%] vs 11/51 [22%]; hip neck: 3/16 [19%] vs 13/44 [30%]; total hip: 3/13 [23%] vs 3/38 [8%]). Median age at DXA was similar in those with vs without HoF (60.6 y vs 60.8 y). Metatarsal/femoral fractures characteristic of HPP were present in 10/17 (59%) younger adults and 9/16 (56%) older adults; fractures characteristic of osteoporosis/low BMD (eg, vertebra, hip, wrist, humerus) were present in 5/17 (29%) younger adults and 7/16 (44%) older adults. Conclusions: Median BMD T-scores were within a normal range in adults regardless of fracture history. Some patients may have concomitant osteoporosis in addition to the underlying HPP-related osteomalacia. Further analysis to distinguish fractures due to osteoporosis vs compromised mineralization is warranted. Presentation: Sunday, July 13, 2025

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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 score0.277
Threshold uncertainty score0.409

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0000.000

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 head0.012
GPT teacher head0.298
Teacher spread0.287 · 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 teacher head, 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".

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Citations0
Published2025
Admission routes1
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