Evidence map›Paper›PMID 30013199›Full record

ArticleNature medicine2018

Fetal gene therapy for neurodegenerative disease of infants.

Giulia Massaro, Citra N Z Mattar, Andrew M S Wong, Ernestas Sirka, Suzanne M K Buckley, Bronwen R Herbert, Stefan Karlsson, Dany P Perocheau, Derek Burke, Simon Heales and 12 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.

0numbers the graph read from it
0cells of the map it votes in
94citing papers in PubMed
14.8field-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.

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

94 citing papers in PubMed, 162 citations in OpenAlex.

  1. Article
  2. Article
  3. Considerations for early life genetic therapies in cystic fibrosis.American journal of physiology. Lung cellular and molecular physiology · 2026
    Review
  4. Article
  5. Article
  6. Exploring huntington's disease from a neurodevelopmental perspective.International journal of biological sciences · 2026
    Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Artificial Uterus and Artificial Embryos: Unsolved Tasks.Reproductive sciences (Thousand Oaks, Calif.) · 2025
    Review
  12. Review
  13. Article
  14. Article
  15. Recent developments in gene therapy for Parkinson's disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

22 authors at 10 institutions in 5 countries.

Giulia MassaroUCL School of Pharmacy, University College London, London, UK.
Citra N Z MattarDepartment of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Andrew M S WongDepartment of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Ernestas SirkaUCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Suzanne M K BuckleyUCL Institute for Women's Health, University College London, London, UK.
Bronwen R HerbertInstitute for Reproductive and Developmental Biology, Imperial College London, London, UK.
Stefan KarlssonDivision of Molecular Medicine and Gene Therapy, Lund University, Lund, Sweden.
Dany P PerocheauUCL Institute for Women's Health, University College London, London, UK.
Derek BurkePaediatric Laboratory Medicine, Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health, London, UK.
Simon HealesPaediatric Laboratory Medicine, Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health, London, UK.
Angela Richard-LondtDepartment of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, UK.
Sebastian BrandnerDepartment of Neurodegenerative Disease, UCL Institute of Neurology, University College London, London, UK.ORCID http://orcid.org/0000-0002-9821-0342
Mylene HuebeckerDepartment of Pharmacology, University of Oxford, Oxford, UK.
David A PriestmanDepartment of Pharmacology, University of Oxford, Oxford, UK.
Frances M PlattDepartment of Pharmacology, University of Oxford, Oxford, UK.
Kevin MillsUCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Arijit BiswasDepartment of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Jonathan D CooperDepartment of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Jerry K Y ChanDepartment of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Seng H ChengSanofi, Framingham, MA, USA.
Simon N WaddingtonUCL Institute for Women's Health, University College London, London, UK. s.waddington@ucl.ac.uk.ORCID http://orcid.org/0000-0003-4970-4730
Ahad A RahimUCL School of Pharmacy, University College London, London, UK.
University College London · GBNational University of Singapore · SGUniversity of Oxford · GBGreat Ormond Street Hospital · GBImperial College London · GBKing's College London · GBLund University · SESanofi (United States) · USUniversity of California, Los Angeles · USUniversity of the Witwatersrand · ZA

Funding

European Research Council 260862Medical Research Council G1000709Medical Research Council MR/M00676X/1Medical Research Council MR/N019075/1Medical Research Council MR/N026101/1Medical Research Council MR/P026494/1Medical Research Council MR/R015325/1Medical Research Council MR/R025134/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/L001780/1Wellcome Trust 202834/Z/16/Z
6 · The paper itself

Abstract

For inherited genetic diseases, fetal gene therapy offers the potential of prophylaxis against early, irreversible and lethal pathological change. To explore this, we studied neuronopathic Gaucher disease (nGD), caused by mutations in GBA. In adult patients, the milder form presents with hepatomegaly, splenomegaly and occasional lung and bone disease; this is managed, symptomatically, by enzyme replacement therapy. The acute childhood lethal form of nGD is untreatable since enzyme cannot cross the blood-brain barrier. Patients with nGD exhibit signs consistent with hindbrain neurodegeneration, including neck hyperextension, strabismus and, often, fatal apnea

Indexed as

Genetic TherapyAnimalsFetusGaucher DiseaseHumansInfantInjections, IntravenousInjections, IntraventricularMice, Inbred C57BLNeurodegenerative Diseases

Identifiers

PMID30013199
PMCPMC6130799
OpenAlexW2883876697

What OpenQuestion holds

Textmetadata
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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.