Evidence map›Paper›PMID 42818441›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Expanded Access use of Intravenous Gene Transfer with AAV9-GLB1 in a Juvenile GM1 Gangliosidosis Participant.

Connor J Lewis, Hera Akmal, Precilla D'Souza, Jean M Johnston, Sumaiya Ashraf, Gilbert Vezina, Selby I Chipman, Meghan Blackwood, Muhammad H Yousef, Zenaide Quezado and 13 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

23 authors.

Connor J LewisOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.ORCID 0000-0002-8204-5848
Hera AkmalOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.
Precilla D'SouzaOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.
Jean M JohnstonOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.
Sumaiya AshrafOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.
Gilbert VezinaDepartment of Diagnostic Imaging and Radiology, Children's National Hospital, Washington D.C., USA.
Selby I ChipmanOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.
Meghan BlackwoodDepartment of Genetic and Cellular Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Muhammad H YousefDepartment of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda MD, USA.
Zenaide QuezadoDepartment of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda MD, USA.
William A GahlMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
Barry J ByrneDepartment of Pediatrics and Powell Gene Therapy Center, University of Florida, Gainesville FL, USA.
Terence R FlotteDepartment of Genetic and Cellular Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Xuntian JiangDepartment of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Audrey ThurmNeurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA.
Amanda L GrossScott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, AL, USA.
Allison M KeelerDepartment of Genetic and Cellular Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.ORCID 0000-0002-5202-4616
Douglas R MartinScott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, AL, USA.
Miguel Sena-EstevesDepartment of Genetic and Cellular Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Heather L Gray-EdwardsDepartment of Genetic and Cellular Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Raymond Y WangDivision of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
Maria T AcostaOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.

Funding

WU P&FP30DK020579 · NIDDK · WASHINGTON UNIVERSITY · PI Clay F. Semenkovich · 2013 to 2026
$27.1M
Neurodevelopmental and Behavioral Phenotyping ZICMH002961 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI THURM, AUDREY · 2017 to 2025
$12.6M
Pathogenesis informs therapy in the GM1 and GM2 GangliosidosesZIAHG200409 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI TIFFT, CYNTHIA · 2020 to 2025
$4.1M
Medical Scientist Training at UMCMST32GM159591 · NIGMS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI Read Pukkila-Worley · 2025 to 2026
$2.0M
Validation of analytical methods for quantification of a pentasaccharide biomarker in efficacy assessment of AVV treatment for GM1 gangliosidosisU01NS114156 · NINDS · WASHINGTON UNIVERSITY · PI JIANG, XUNTIAN · 2021 to 2025
$1.9M
Using Ethics and User-Centered Design to Create Templates for EHR-Mediated Return of Genetic Test ResultsR21HG009958 · NHGRI · UNIVERSITY OF WASHINGTON · PI KORNGIEBEL, DIANE M · 2018 to 2019
$418k
LONKAGE ANALYSIS OF PROSTATE CANCERZ01HG000107 · NHGRI · HUMAN GENOME RESEARCH · PI BAILEY-WILSON, JOAN E. · 1997 to 2004
–
Intramural NIH HHS Z01 HG000107Intramural NIH HHS ZIA HG200409Intramural NIH HHS ZIC MH002961NHGRI NIH HHS R21 HG009958NIDDK NIH HHS P30 DK020579NIGMS NIH HHS T32 GM159591NINDS NIH HHS U01 NS114156
6 · The paper itself

Abstract

GM1 gangliosidosis is an inherited and progressively neurodegenerative lysosomal storage disorder with no approved therapy. We report 5-year safety and 3-year clinical, biochemical, and neuroimaging efficacy outcomes following expanded-access intravenous AAV9-GLB1 gene therapy in GT01, a 6-10-year-old female with juvenile-onset GM1 gangliosidosis. During participation in a natural history study before gene transfer, GT01 developed seizures, dysarthria, loss of ambulation, and progressive neurodegeneration. She received a single intravenous administration of AAV9-GLB1 at 1.5×10

Identifiers

PMID42818441
PMCPMC13622731

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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.