Evidence map›Paper›PMID 22359536›Full record

Trial reportPloS one2012

Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.

Huntington Study Group COHORT Investigators, E Ray Dorsey

Erratum issued Registry-linked trialOpen access · goldAbstract readClinical Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00313495 (Cooperative Huntington's Observational Research Trial), which is not on this map. Cited by 58 papers.

0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed
4.0field-weighted citation impact, top 5% 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.

NCT00313495 unknown statusnot on this map

Cooperative Huntington's Observational Research Trial

TypeobservationalSponsorHP Therapeutics FoundationRan2006 to 2020Enrolled5,000ConditionsHuntington Disease
3 · Its place in the literature

Who cites it

58 citing papers in PubMed, 101 citations in OpenAlex.

  1. Trial
  2. Sample enrichment for clinical trials to show delay of onset in huntington disease.Movement disorders : official journal of the Movement Disorder Society · 2019
    Trial
  3. Article
  4. Review
  5. Review
  6. Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Utility of the Huntington's Disease Prognostic Index Score for a Perimanifest Clinical Trial.Movement disorders : official journal of the Movement Disorder Society · 2022
    Article
  14. Article
  15. Review
  16. Dynamic landmark prediction for mixture data.Biostatistics (Oxford, England) · 2021
    Article
  17. Review
  18. Article
  19. Review
  20. Review
4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Huntington Study Group COHORT InvestigatorsDepartment of Neurology, Johns Hopkins Medicine, Baltimore, Maryland, United States of America. ray.dorsey@jhmi.edu
E Ray Dorsey
Johns Hopkins Medicine · US

Funding

The University of Rochester's Clinical and Translational Science InstituteKL2RR024136 · NCRR · UNIVERSITY OF ROCHESTER · PI PEARSON, THOMAS ARTHUR · 2006 to 2011
$4.3M
NCRR NIH HHS KL2 RR024136
6 · The paper itself

Abstract

backgroundCareful characterization of the phenotype and genotype of Huntington disease (HD) can foster better understanding of the condition.

methodsWe conducted a cohort study in the United States, Canada, and Australia of members of families affected by HD. We collected demographic and clinical data, conducted the Unified Huntington's Disease Rating Scale and Mini-Mental State Examination, and determined Huntingtin trinucleotide CAG repeat length. We report primarily on cross-sectional baseline data from this recently completed prospective, longitudinal, observational study.

resultsAs of December 31, 2009, 2,318 individuals enrolled; of these, 1,985 (85.6%) were classified into six analysis groups. Three groups had expanded CAG alleles (36 repeats or more): individuals with clinically diagnosed HD [n = 930], and clinically unaffected first-degree relatives who had previously pursued [n = 248] or not pursued [n = 112] predictive DNA testing. Three groups lacked expanded alleles: first-degree relatives who had previously pursued [n = 41] or not pursued [n = 224] genetic testing, and spouses and caregivers [n = 430]. Baseline mean performance differed across groups in all motor, behavioral, cognitive, and functional measures (p<0.001). Clinically unaffected individuals with expanded alleles weighed less (76.0 vs. 79.6 kg; p = 0.01) and had lower cognitive scores (28.5 vs. 29.1 on the Mini Mental State Examination; p = 0.008) than individuals without expanded alleles. The frequency of "high normal" repeat lengths (27 to 35) was 2.5% and repeat lengths associated with reduced penetrance (36 to 39) was 2.7%.

conclusionBaseline analysis of COHORT study participants revealed differences that emerge prior to clinical diagnosis. Longitudinal investigation of this cohort will further characterize the natural history of HD and genetic and biological modifiers.

trial registrationClinicaltrials.gov NCT00313495.

Indexed as

AllelesAustraliaCanadaCohort StudiesFamilyGenetic TestingHumansHuntingtin ProteinHuntington DiseaseLongitudinal StudiesNerve Tissue ProteinsPhenotypeProspective StudiesTrinucleotide RepeatsUnited StatesHTT protein, humanHuntingtin ProteinNerve Tissue Proteins

Identifiers

PMID22359536
PMCPMC3281013
OpenAlexW2121684860

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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.