Evidence map›Paper›PMID 37993691›Full record

ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2024

Hypophosphatasia: presentation and response to asfotase alfa.

F Alsarraf, D S Ali, K Almonaei, H Al-Alwani, A A Khan, M L Brandi

Abstract read
PubMed Publisher
In one paragraph

Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.8field-weighted citation impact, top 13% of its field
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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Review
  5. Article
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

6 authors at 3 institutions in 2 countries.

F AlsarrafDivision of Endocrinology and Metabolism, McMaster University, Hamilton, Ontario, Canada. Dr.farahaalsarraf@gmail.com.ORCID http://orcid.org/0000-0001-9426-9702
D S AliDivision of Endocrinology and Metabolism, McMaster University, Hamilton, Ontario, Canada.ORCID https://orcid.org/0000-0002-5378-5548
K AlmonaeiDepartment of Endocrinology and Diabetes, Diabetes Treatment Center, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
H Al-AlwaniDepartment of Medicine, University of Jeddah, Jeddah, Saudi Arabia.ORCID https://orcid.org/0000-0001-9036-7903
A A KhanDivision of Endocrinology and Metabolism, McMaster University, Hamilton, Ontario, Canada.ORCID https://orcid.org/0000-0003-3733-8956
M L BrandiF.I.R.M.O. Italian Foundation for the Research on Bone Diseases, Florence, Italy.ORCID https://orcid.org/0000-0002-8741-0592
McMaster University · CARiyadh Armed Forces Hospital · SAUniversity of Jeddah · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypophosphatasia (HPP) is a rare bone disease with limited scientific evidence on the tolerability and safety of its novel treatment, Asfotase Alfa (AA). We report 7 HPP patients' heterogenous presentations and the significant improvement in various clinical outcomes attained with AA shedding light on this highly effective and safe therapy.

introductionHypophosphatasia (HPP) is a rare inherited metabolic bone disorder characterized by a deficiency in the tissue non-specific alkaline phosphatase (TNSALP) due to loss of function mutation in the ALPL gene. HPP is associated with impaired skeletal mineralization due to elevations in inorganic pyrophosphate and altered phosphate : pyrophosphate ratio. Asfotase alfa (AA) "enzyme replacement" was approved for treatment of HPP in 2015. We present 7 patients with HPP, 5 with pediatric-onset, and 2 with adult-onset, who have been treated with AA and describe the efficacy and safety in these patients.

methods7 patients (4 females, 3 males) aged 19-68 years with HPP were included in this study. Diagnosis of HPP was confirmed by DNA analysis. AA was administered in doses of 6mg/kg/week with a mean follow-up of 6 months (SD= 5).

resultsSubjective improvement in muscle strength, muscle pain, walking ability, and walking distance with a reduction in the use of gait aids was seen "with AA in HPP patients." Muscle strength and pain improved by up to 70% from baseline as quantified subjectively by patients. Walking distance improved by up to 100%. Patients also reported improved cognition, mood, and energy levels, with up to 90% improvement in mood and 75% improvement in energy levels. 4 out of 6 patients first noted clinical signs of improvement after 3 months of being on therapy. 1 out of the 7 patients sustained a toe fracture 10 months from being on AA. AA was well-tolerated with injection site reactions being the most reported adverse effect.

conclusionHPP treatment with AA in individuals with both pediatric and adult-onset forms resulted in significant subjective improvement in musculoskeletal and cognitive manifestations in addition to patients' quality of life. The drug was well tolerated in 6 patients. 1 patient discontinued therapy because of minor adverse effects with myalgias.

Indexed as

Bone Diseases, MetabolicHypophosphatasiaImmunoglobulin GRecombinant Fusion ProteinsAdultAlkaline PhosphataseChildDiphosphatesFemaleHumansMalePainQuality of LifeAlkaline Phosphataseasfotase alfaDiphosphatesImmunoglobulin GRecombinant Fusion ProteinsAsfotase alfaHypophosphatasiaPresentationTreatment

Identifiers

PMID37993691
OpenAlexW4388932182

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.