Evidence map›Paper›PMID 39628365›Full record

ArticleHuman gene therapy2024

Urine

Amanda Nagy, Florian Eichler, Annette Bley, Janna Bredow, Alexander Fay, Elise L Townsend, Beth Leiro, Adam Shaywitz, Genevieve Laforet, Danielle Crippen-Harmon and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human gene therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. 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

11 authors.

Amanda NagyDepartment of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Florian EichlerDepartment of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Annette BleyUniversity Medical Center Hamburg-Eppendorf, Leukodystrophy Clinic at University Children's Hospital, Hamburg, Germany.
Janna BredowUniversity Medical Center Hamburg-Eppendorf, Leukodystrophy Clinic at University Children's Hospital, Hamburg, Germany.
Alexander FayDepartment of Neurology, University of California San Francisco, San Francisco, California, USA.
Elise L TownsendSchool of Health and Rehabilitation Sciences, MGH Institute of Health Professions, Boston, Massachusetts, USA.
Beth LeiroBridgeBio Gene Therapy, Palo Alto, California, USA.
Adam ShaywitzBridgeBio Gene Therapy, Palo Alto, California, USA.
Genevieve LaforetBridgeBio Gene Therapy, Palo Alto, California, USA.
Danielle Crippen-HarmonBridgeBio Gene Therapy, Palo Alto, California, USA.
Rachel WilliamsBridgeBio Gene Therapy, Palo Alto, California, USA.ORCID 0009-0001-0427-4477

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3M
NINDS NIH HHS U54 NS115052
6 · The paper itself

Abstract

Canavan disease (CD) is an ultra-rare autosomal recessive leukodystrophy caused by loss-of-function mutations in

Indexed as

AmidohydrolasesAspartic AcidCanavan DiseaseFemaleGenotypeHumansMaleMutationPhenotypeAmidohydrolasesAspartic AcidaspartoacylaseN-acetylaspartateaspartoacylase (ASPA)biomarkerCanavan diseasegenotypeN-acetylaspartic acid (NAA)phenotype

Identifiers

PMID39628365
PMCPMC11807896

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.