Evidence map›Paper›PMID 25795794›Full record

Trial reportJournal of medical genetics2015

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Dominique P Germain, Joel Charrow, Robert J Desnick, Nathalie Guffon, Judy Kempf, Robin H Lachmann, Roberta Lemay, Gabor E Linthorst, Seymour Packman, C Ronald Scott and 4 more

2 registry-linked trialsOpen access · hybridAbstract readClinical Trial, Phase IIIMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Journal of medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 169 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
169citing papers in PubMed, 6 pooled it
21.3field-weighted citation impact, top 1% 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.

NCT03838237 completednot on this mapstarted 2018, after this paper: background citation

Effect of Migalastat on Cardiac Involvement in Fabry Disease

TypeobservationalSponsorOspedale San DonatoRan2018 to 2021Enrolled18ConditionsFabry Disease, Heart DiseasesArmsCardiological evaluation
NCT06512376 active not recruitingnot on this mapstarted 2022, after this paper: background citation

Hereditary Cerebral Small Vessel Diseases Registry-Trial Ready Cohort (HCSVD-TRC)

Typeobservational_patient_registrySponsorBeijing Tiantan HospitalRan2022 to 2027Enrolled100ConditionsCerebral Small Vessel Diseases, Hereditary
3 · Its place in the literature

Who cites it

169 citing papers in PubMed, 6 syntheses or guidelines pooled it, 356 citations in OpenAlex.

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  20. Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026
    Review

109 more citing papers are in PubMed but not listed here.

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

14 authors at 11 institutions in 5 countries.

Dominique P GermainDivision of Medical Genetics, University of Versailles-St Quentin en Yvelines, Versailles, France; Assistance Publique-Hopitaux de Paris, Garches, France.
Joel CharrowDepartment of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Robert J DesnickDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Nathalie GuffonHospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de Référence des Maladies Héréditaires du Métabolisme, Bron, France.
Judy KempfGenzyme, a Sanofi company, Cambridge, Massachusetts, USA.
Robin H LachmannCharles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Roberta LemayGenzyme, a Sanofi company, Cambridge, Massachusetts, USA.
Gabor E LinthorstDepartment of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.
Seymour PackmanDivision of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California, USA.
C Ronald ScottDepartment of Pediatrics, University of Washington, Seattle, Washington, USA.
Stephen WaldekIndependent Medical Consultant (retired from Salford Royal NHS Trust 2011), Manchester, UK.
David G WarnockDivision of Nephrology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Neal J WeinrebUniversity Research Foundation for Lysosomal Storage Diseases, Coral Springs, Florida, USA.
William R WilcoxDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Emory University · USHospices Civils de Lyon · FRIcahn School of Medicine at Mount Sinai · USNorthwestern University · USSalford Royal NHS Foundation Trust · GBUniversité de Versailles Saint-Quentin-en-Yvelines · FRUniversity College London · GBUniversity of Alabama at Birmingham · USUniversity of Amsterdam · NLUniversity of California, San Francisco · USUniversity of Washington · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We assessed the 10-year outcome of recombinant α-galactosidase A therapy.

methodsThe outcomes (severe clinical events, renal function, cardiac structure) of 52/58 patients with classic Fabry disease from the phase 3 clinical trial and extension study, and the Fabry Registry were evaluated. Disease progression rates for patients with low renal involvement (LRI, n=32) or high renal involvement (HRI, n=20) at baseline were assessed.

results81% of patients (42/52) did not experience any severe clinical event during the treatment interval and 94% (49/52) were alive at the end of the study period. Ten patients reported a total of 16 events. Patients classified as LRI started therapy 13 years younger than HRI (mean 25 years vs 38 years). Mean slopes for estimated glomerular filtration rate for LRI and HRI were -1.89 mL/min/1.73 m(2)/year and -6.82 mL/min/1.73 m(2)/year, respectively. Overall, the mean left ventricular posterior wall thickness and interventricular septum thickness remained unchanged and normal. Patients who initiated treatment at age ≥ 40 years exhibited significant increase in left ventricular posterior wall thickness and interventricular septum thickness. Mean plasma globotriaosylceramide normalised within 6 months.

conclusionsThis 10-year study documents the effectiveness of agalsidase beta (1 mg/kg/2 weeks) in patients with Fabry disease. Most patients remained alive and event-free. Patients who initiated treatment at a younger age and with less kidney involvement benefited the most from therapy. Patients who initiated treatment at older ages and/or had advanced renal disease experienced disease progression.

Indexed as

Enzyme Replacement TherapyAdolescentAdultalpha-GalactosidaseFabry DiseaseFemaleFollow-Up StudiesHumansIsoenzymesKidney DiseasesMaleMiddle AgedRecombinant ProteinsTreatment OutcomeYoung Adultagalsidase betaalpha-GalactosidaseIsoenzymesRecombinant ProteinsGeneticsMetabolic disorders

Identifiers

PMID25795794
PMCPMC4413801
OpenAlexW2015981234

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

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.