Evidence map›Paper›PMID 39295144›Full record

ArticleMolecular therapy : the journal of the American Society of Gene Therapy2024

Preclinical lentiviral hematopoietic stem cell gene therapy corrects Pompe disease-related muscle and neurological manifestations.

John K Yoon, Jeffrey W Schindler, Mariana Loperfido, Cristina Baricordi, Mark P DeAndrade, Mary E Jacobs, Christopher Treleaven, Robert N Plasschaert, Aimin Yan, Cecilia N Barese and 18 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. 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

28 authors.

John K YoonAVROBIO, Inc., Cambridge, MA 02139, USA.
Jeffrey W SchindlerAVROBIO, Inc., Cambridge, MA 02139, USA.
Mariana LoperfidoAVROBIO, Inc., Cambridge, MA 02139, USA.
Cristina BaricordiAVROBIO, Inc., Cambridge, MA 02139, USA.
Mark P DeAndradeAVROBIO, Inc., Cambridge, MA 02139, USA.
Mary E JacobsAVROBIO, Inc., Cambridge, MA 02139, USA.
Christopher TreleavenAVROBIO, Inc., Cambridge, MA 02139, USA.
Robert N PlasschaertAVROBIO, Inc., Cambridge, MA 02139, USA.
Aimin YanAVROBIO, Inc., Cambridge, MA 02139, USA.
Cecilia N BareseAVROBIO, Inc., Cambridge, MA 02139, USA.
Yildirim DoganAVROBIO, Inc., Cambridge, MA 02139, USA.
Vicky Ping ChenAVROBIO, Inc., Cambridge, MA 02139, USA.
Claudia FioriniAVROBIO, Inc., Cambridge, MA 02139, USA.
Fritz HullAVROBIO, Inc., Cambridge, MA 02139, USA.
Luigi BarbarossaAVROBIO, Inc., Cambridge, MA 02139, USA.
Zeenath UnnisaAVROBIO, Inc., Cambridge, MA 02139, USA.
Daniel IvanovAVROBIO, Inc., Cambridge, MA 02139, USA.
Robert H KutnerAVROBIO, Inc., Cambridge, MA 02139, USA.
Swaroopa GudaAVROBIO, Inc., Cambridge, MA 02139, USA.
Christine OborskiAVROBIO, Inc., Cambridge, MA 02139, USA.
Tim MaiwaldAVROBIO, Inc., Cambridge, MA 02139, USA.
Véronique MichaudLady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montreal, Quebec H3T 1E2, Canada.
Michael RotheInstitute of Experimental Hematology, Hannover Medical School, Carl-Neuberg-Straße 1, 30625 Hannover, Germany.
Axel SchambachInstitute of Experimental Hematology, Hannover Medical School, Carl-Neuberg-Straße 1, 30625 Hannover, Germany; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Richard PfeiferAVROBIO, Inc., Cambridge, MA 02139, USA.
Chris MasonAVROBIO, Inc., Cambridge, MA 02139, USA; Advanced Centre for Biochemical Engineering, University College London, London WC1E 6AE, UK.
Luca BiascoAVROBIO, Inc., Cambridge, MA 02139, USA; Zayed Centre for Research, University College London, London WC1N 1DZ, UK.
Niek P van TilAVROBIO, Inc., Cambridge, MA 02139, USA; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, VU University, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, 1081 HV, Amsterdam, the Netherlands; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, the Netherlands. Electronic address: n.p.vantil@amsterdamumc.nl.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pompe disease, a rare genetic neuromuscular disorder, is caused by a deficiency of acid alpha-glucosidase (GAA), leading to an accumulation of glycogen in lysosomes, and resulting in the progressive development of muscle weakness. The current standard treatment, enzyme replacement therapy (ERT), is not curative and has limitations such as poor penetration into skeletal muscle and both the central and peripheral nervous systems, a risk of immune responses against the recombinant enzyme, and the requirement for high doses and frequent infusions. To overcome these limitations, lentiviral vector-mediated hematopoietic stem and progenitor cell (HSPC) gene therapy has been proposed as a next-generation approach for treating Pompe disease. This study demonstrates the potential of lentiviral HSPC gene therapy to reverse the pathological effects of Pompe disease in a preclinical mouse model. It includes a comprehensive safety assessment via integration site analysis, along with single-cell RNA sequencing analysis of central nervous tissue samples to gain insights into the underlying mechanisms of phenotype correction.

Indexed as

alpha-GlucosidasesDisease Models, AnimalGenetic TherapyGenetic VectorsGlycogen Storage Disease Type IIHematopoietic Stem CellsHematopoietic Stem Cell TransplantationLentivirusMuscle, SkeletalAnimalsHumansMicealpha-Glucosidasescentral nervous systemglycosylation-independent lysosomal targetinghematopoietic stem and progenitor cellslentiviral vectorPompe diseasetag technology

Identifiers

PMID39295144
PMCPMC11573599

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.