Evidence map›Paper›PMID 41536902›Full record

ArticleGenetics in medicine open2026

Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.

Ankit K Desai, Eleanor Rodriguez-Rassi, Suhag Parikh, Rossana Sanchez Russo, David Kronn, J Austin Hamm, Irene J Chang, Damara Ortiz, Molly McPheron, Holly Lydigsen and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

13 authors.

Ankit K DesaiDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
Eleanor Rodriguez-RassiDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
Suhag ParikhAflac Cancer and Blood Disorders Center, Emory University School of Medicine, Atlanta, GA.
Rossana Sanchez RussoDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA.
David KronnAdvanced Medical Genetics, Maria Fareri Children's Hospital at WMC Health, Hawthorne, NY.
J Austin HammEast Tennessee Children's Hospital, Knoxville, TN.
Irene J ChangDivision of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA.
Damara OrtizUPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.
Molly McPheronIndiana University School of Medicine, Indianapolis, IN.
Holly LydigsenUniversity of Tennessee Health Science Center, Memphis, TN.
Stephanie DeArmeyDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
Sarah P YoungDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
Priya S KishnaniDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To assess the benefits of early enzyme replacement therapy (ERT) in patients with infantile-onset Pompe disease (IOPD). Methods: A retrospective chart review of 17 IOPD (7 cross-reactive immunologic material [CRIM]-negative and 10 CRIM positive) who initiated ERT (alglucosidase alfa) ≤4 weeks of age and had ≥18 months follow-up was performed. Results: Patients received starting doses of 20 mg/kg/every other week ( Conclusion: These data highlight the benefits of early ERT initiation and ITI, along with high-dose ERT. Despite early treatment, patients with IOPD remain at risk of developing HSAT.

Indexed as

Enzyme replacement therapyImmune tolerance inductionNewborn screeningPompe disease

Identifiers

PMID41536902
PMCPMC12796937

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.