Evidence map›Paper›PMID 39789203›Full record

ArticleCommunications medicine2025

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Nishitha R Pillai, Ning Liu, Xiyuan Li, Xiqi Li, Rebecca Ahrens-Nicklas, Laura Adang, Julie B Eisengart, Grace Bronken, Ashish Gupta, Troy C Lund and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Communications medicine, 2025. 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. 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

13 authors.

Nishitha R PillaiDepartment of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA. Pilla125@umn.edu.ORCID http://orcid.org/0000-0002-2943-2136
Ning LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Xiyuan LiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Xiqi LiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Rebecca Ahrens-NicklasDepartment of Pediatrics, Division of Human Genetics at Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Laura AdangDepartment of Pediatrics, Division of Neurology at Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Julie B EisengartDepartment of Pediatrics, Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN, USA.ORCID http://orcid.org/0000-0001-5340-017X
Grace BronkenM Health, Fairview, Minneapolis, Minnesota, MN, USA.ORCID http://orcid.org/0000-0001-5316-0882
Ashish GuptaDepartment of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Troy C LundDepartment of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.ORCID http://orcid.org/0000-0001-9174-8919
Chester B WhitleyDepartment of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.
Sarah H ElseaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-1400-8519
Paul J OrchardDepartment of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.ORCID http://orcid.org/0000-0001-9426-1292

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMultiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD. Other than symptomatic treatment, no curative therapy exists as of yet for MSD. Eight out of these 17 sulfatases are primarily localized in the lysosome.

methodsTwo siblings with attenuated MSD underwent hematopoietic cell transplantation (HCT), evaluating the possibility of lysosomal enzymatic cross-correction from the donor cells.

resultsThere is evidence of correction of currently available biomarkers within 3 months post-HCT. Untargeted metabolomics also shows continued correction of multiple biochemical abnormalities in the post-HCT period. Furthermore, this article also presents the neuropsychological outcomes of these children as well as the results of untargeted metabolomics analysis in this condition.

conclusionsThese data suggest biochemical benefits post-transplant along with slowing of disease progression. Long-term follow-up is necessary to fully evaluate the therapeutic benefit of HCT in MSD.

Identifiers

PMID39789203
PMCPMC11718225

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.