Evidence map›Paper›PMID 40138164›Full record

Observational studyAdvances in therapy2025

Mobility and Quality of Life in Adults with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement.

Katie E Moss, Richard Keen, Shona Fang, Alexandros Zygouras, Muhammad K Javaid, Tarekegn Geberhiwot, Kenneth E S Poole, Peter Selby, Jennifer S Walsh, Judith S Bubbear

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Advances in therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Katie E MossSt. George's University Hospitals, Blackshaw Rd, London, SW17 0QT, UK. katie.moss@stgeorges.nhs.uk.ORCID http://orcid.org/0000-0002-1944-8302
Richard KeenRoyal National Orthopaedic Hospital, Stanmore, UK.ORCID http://orcid.org/0009-0001-8216-3828
Shona FangAlexion, AstraZeneca Rare Disease, Boston, MA, USA.ORCID http://orcid.org/0009-0008-7019-5647
Alexandros ZygourasAlexion, AstraZeneca Rare Disease, London, Middlesex, UK.
Muhammad K JavaidOxford University, Oxford, UK.ORCID http://orcid.org/0000-0001-7985-0048
Tarekegn GeberhiwotQueen Elizabeth Hospital, Birmingham, UK.ORCID http://orcid.org/0000-0002-3629-2338
Kenneth E S PooleDepartment of Medicine and NIHR Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-9187-9967
Peter SelbyManchester Royal Infirmary, Manchester, UK.
Jennifer S WalshUniversity of Sheffield, Sheffield, UK.
Judith S BubbearRoyal National Orthopaedic Hospital, Stanmore, UK.ORCID http://orcid.org/0000-0001-7576-250X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionHypophosphatasia (HPP) is a rare disease caused by deficient tissue-non-specific alkaline phosphatase (ALP) activity. Asfotase alfa is a tissue-non-specific ALP enzyme-replacement therapy which was reimbursed in the UK under a Managed Access Agreement (MAA). This analysis assessed safety and effectiveness of asfotase alfa in adults with HPP.

methodsThis prospective, observational data collection included adults with paediatric-onset HPP enroled in the MAA and treated with asfotase alfa for ≥ 6 months to 5 years. Assessments included mobility, pain, and health-related quality of life (HRQoL), each reported at regular intervals through year 3. Analgesic use, fractures, and events of interest (EOIs) were each reported continuously throughout follow-up.

resultsOf 28 enroled treated adults, 24 were assessed for effectiveness. Distance walked in the 6-Minute Walk Test was median (min, max) 172.5 m (0.0, 380.0; n = 24) at baseline and improved by 157.3 m (- 171.0, 479.5; n = 16) at month 6; results were sustained throughout follow-up. Median (min, max) Bleck score was 6.0 (2.0, 9.0; n = 24) at baseline and increased to 6.5 (5.0, 9.0; n = 10) at month 36. Median (min, max) aggregate Brief Pain Inventory Short Form severity score was 8.0 (4.3, 10.0; n = 24) at baseline and improved to 4.4 (1.0, 7.8; n = 10) at month 36. During follow-up, 8 participants (33.3%) decreased or discontinued opioid use throughout follow-up and 4 (16.7%) reported fractures. Median (min, max) EQ-5D-3L utility scores improved from 0.21 (- 0.26, 0.60; n = 24) at baseline by 0.15 (- 0.36, 0.91; n = 24) at month 6 and were similar throughout follow-up. Injection site reactions were the most common treatment-related EOI, reported in 17 participants (60.7%). Three participants reported treatment-related serious adverse events.

conclusionAsfotase alfa treatment improved mobility, physical function, pain, and HRQoL and was well tolerated. These data show the benefit of asfotase alfa in adults with paediatric-onset HPP.

Indexed as

Alkaline PhosphataseEnzyme Replacement TherapyHypophosphatasiaImmunoglobulin GQuality of LifeRecombinant Fusion ProteinsAdolescentAdultAgedFemaleFractures, BoneHumansMaleMiddle AgedProspective StudiesTreatment OutcomeAlkaline Phosphataseasfotase alfaImmunoglobulin GRecombinant Fusion Proteins6-Minute Walk TestAsfotase alfaHypophosphatasiaQuality of lifeRare disease

Identifiers

PMID40138164
PMCPMC12006239

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.