Evidence map›Paper›PMID 31719137›Full record

ArticleNeurology2019

Variation in cognitive function over time in Gaucher disease type 3.

Alta M Steward, Edythe Wiggs, Taylor Lindstrom, Somto Ukwuani, Emory Ryan, Nahid Tayebi, Tamanna Roshan Lal, Grisel Lopez, Raphael Schiffmann, Ellen Sidransky

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00001215 (Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders), which is not on this map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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.

NCT00001215 enrolling by invitationnot on this map

Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran1995Enrolled1,000ConditionsLysosomal Storage Disorders, Gaucher Disease, Parkinson Disease
3 · Its place in the literature

Who cites it

13 citing papers in PubMed.

  1. Article
  2. Review
  3. Gaucher disease, state of the art and perspectives.Journal of internal medicine · 2025
    Review
  4. Review
  5. Article
  6. Article
  7. Observational
  8. Article
  9. Review
  10. Review
  11. Article
  12. The definition of neuronopathic Gaucher disease.Journal of inherited metabolic disease · 2020
    Article
  13. 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

10 authors.

Alta M StewardFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.ORCID 0000-0001-9167-8578
Edythe WiggsFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.
Taylor LindstromFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.
Somto UkwuaniFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.
Emory RyanFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.
Nahid TayebiFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.
Tamanna Roshan LalFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.
Grisel LopezFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.
Raphael SchiffmannFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.
Ellen SidranskyFrom the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC. sidranse@mail.nih.gov.

Funding

Postdoctoral Medical Genetics Training GrantT32GM007471 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI TAO WANG · 1985 to 2026
$8.0M
NIGMS NIH HHS T32 GM007471
6 · The paper itself

Abstract

objectiveTo identify relevant efficacy parameters essential in designing clinical trials for brain-penetrant therapies for Gaucher disease, we evaluated cognitive function longitudinally in 34 patients with Gaucher disease type 3 seen at the NIH Clinical Center.

methodsIndividuals were tested with age-appropriate Wechsler Intelligence Scales administered between 1 and 18 times over 29 years. Variation in all IQ domains was not linear with time and was best characterized with the coefficient of variation (SD/mean) for each individual. Mixed-effects regressions were used to determine whether IQ was associated with clinical features. Models were controlled for variation in test version, participant identification, and test administrator.

resultsMean verbal, performance, and full-scale IQs were 81.77, 75.98, and 82.02, respectively, with a consistent discrepancy between verbal and performance IQs. Mean (SD) verbal, performance, and full-scale coefficient of variations were 0.07 (0.04), 0.09 (0.05), and 0.06 (0.02), respectively. IQ varied about a mean, with no clear trajectory, indicating no clear patterns of improvement or decline over time. EEG lateralization and behavioral issues were consistently associated with IQ.

conclusionsThe observed variation in IQ in Gaucher disease type 3 across the cohort and within single individuals over time may be characteristic of other neuronopathic diseases. Therefore, to reliably use IQ as an efficacy measure in any clinical trial of neurotherapeutics, a normal variation range must be established to assess the clinical relevance of any IQ change.

Indexed as

CognitionGaucher DiseaseIntelligenceAdolescentAdultChildChild, PreschoolFemaleHumansMaleReference ValuesRetrospective StudiesWechsler ScalesYoung Adult

Identifiers

PMID31719137
PMCPMC6937490

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Registered trials

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