Evidence map›Paper›PMID 38641994›Full record

Observational studyGenetics in medicine : official journal of the American College of Medical Genetics2024

GM1 gangliosidosis type II: Results of a 10-year prospective study.

Precilla D'Souza, Cristan Farmer, Jean M Johnston, Sangwoo T Han, David Adams, Adam L Hartman, Wadih Zein, Laryssa A Huryn, Beth Solomon, Kelly King and 19 more

Open access · bronzeAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
5.2field-weighted citation impact, top 4% 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

14 citing papers in PubMed, 16 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

29 authors at 11 institutions in 2 countries.

Precilla D'SouzaOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Cristan FarmerNeurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD.
Jean M JohnstonOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Sangwoo T HanMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
David AdamsOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.
Adam L HartmanDivision of Clinical Research, National Institute of Neurological Disorders and Stroke, Bethesda, MD.
Wadih ZeinOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD.
Laryssa A HurynOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD.
Beth SolomonRehabilitation Medicine Department, Warren C. Magnuson Clinical Research Center, Bethesda, MD.
Kelly KingNeurology Branch, National Institute on Deafness and Other Communication Disorders, Bethesda, MD.
Christopher P JordanCardiology Department, Inova Children's Hospital, Fairfax, VA.
Jennifer MylesNutrition Department, Warren C. Magnuson Clinical Research Center, Bethesda, MD.
Elena-Raluca NicoliOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Caroline E RothermelOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Yoliann Mojica AlgarinOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Reyna HuangOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Rachel QuimbyOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Mosufa ZainabOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Sarah BowdenOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Anna CrowellOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Ashura BuckleySleep and Neurodevelopment Service, National Institute of Mental Health, Bethesda, MD.
Carmen BrewerNeurology Branch, National Institute on Deafness and Other Communication Disorders, Bethesda, MD.
Debra S RegierGenetics and Metabolism, Children's National Hospital, Washington, DC.
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD.
Maria T AcostaUndiagnosed Disease Program, National Human Genome Research Institute, Bethesda, MD.
Eva H BakerDepartment of Radiology and Imaging Sciences, National Institutes of Health Clinical Center, Bethesda, MD.
Gilbert VézinaProgram in Neuroradiology and Program in Radiology, Children's National Hospital, Washington, DC; Radiology and Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC.
Audrey ThurmNeurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD.
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD. Electronic address: cynthia.tifft@nih.gov.
National Human Genome Research Institute · USNational Eye Institute · USCardinal Glennon Children’s Medical Center · USNational Institute on Deafness and Other Communication Disorders · USNeuroDevelopment Center · USChildren's National · USGeorge Washington University Hospital · USInova Children's Hospital · USNational Institute of Mental Health · USNational Institute of Neurological Disorders and Stroke · USNational Institutes of Health Clinical Center · US

Funding

Clinical Analysis Of Disorders Of Hearing And BalanceZIADC000064 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI HERTZANO, RONNA · 2009 to 2025
$25.2M
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
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 DC000064Intramural NIH HHS ZIA HG200409Intramural NIH HHS ZIC MH002961
6 · The paper itself

Abstract

purposeGM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved treatments.

methodsForty-one individuals with type II (late-infantile and juvenile) GM1 participated in a single-site prospective observational study.

resultsClassification of 37 distinct variants using American College of Medical Genetics and Genomics criteria resulted in the upgrade of 6 and the submission of 4 new variants. In contrast to type I infantile disease, children with type II had normal or near normal hearing and did not have cherry-red maculae or hepatosplenomegaly. Some older children with juvenile onset disease developed thickened aortic and/or mitral valves. Serial magnetic resonance images demonstrated progressive brain atrophy, more pronounced in late infantile patients. Magnetic resonance spectroscopy showed worsening elevation of myo-inositol and deficit of N-acetyl aspartate that were strongly correlated with scores on the Vineland Adaptive Behavior Scale, progressing more rapidly in late infantile compared with juvenile onset disease.

conclusionSerial phenotyping of type II GM1 patients expands the understanding of disease progression and clarifies common misconceptions about type II patients; these are pivotal steps toward more timely diagnosis and better supportive care. The data amassed through this 10-year effort will serve as a robust comparator for ongoing and future therapeutic trials.

Indexed as

Gangliosidosis, GM1Magnetic Resonance ImagingAdolescentAdultbeta-GalactosidaseBrainChildChild, PreschoolDisease ProgressionFemaleHumansInfantMaleMutationPhenotypeProspective Studiesbeta-GalactosidaseGLB1 protein, humanGM1 gangliosidosisLate infantileLysosomal storage disorderNatural history studyType 1

Identifiers

PMID38641994
PMCPMC11348282
OpenAlexW4394859502

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.