Evidence map›Paper›PMID 36540140›Full record

ArticleNeurology. Clinical practice2022

Humanistic Burden of Huntington Disease: Evidence From the Huntington Disease Burden of Illness Study.

Idaira Rodriguez Santana, Samuel Frank, Maria Doherty, Rosa Willock, Jamie Hamilton, Hayley Hubberstey, Cath Stanley, Louise Vetter, Michaela Winkelmann, Ricardo E Dolmetsch and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Clinical practice, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. 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

13 authors.

Idaira Rodriguez SantanaHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Samuel FrankHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Maria DohertyHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Rosa WillockHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Jamie HamiltonHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Hayley HubbersteyHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Cath StanleyHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Louise VetterHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Michaela WinkelmannHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Ricardo E DolmetschHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Nanxin LiHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Sarah RatschHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.
Talaha M AliHCD Economics (IRS, MD, RW); Harvard Medical School/Beth Israel Deaconess Medical Center (SF); CHDI Foundation (JH); Huntington's Disease Youth Organization (HDYO) (HH); Huntington's Disease Association (CS); Huntington's Disease Society of America (LV); Deutsche Huntington-Hilfe e.V (MW); and UniQure (RED, NL, SR, TMA), Inc, Lexington, MA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Huntington disease (HD) is a rare, inherited, and highly complex neurodegenerative disorder with no currently approved disease-modifying treatments. We investigated the effect of HD on health-related quality of life and other patient-reported outcomes in the Huntington's Disease Burden of Illness (HDBOI) study. Methods: The HDBOI study is a retrospective, cross-sectional study conducted between September 2020 and May 2021 in France, Germany, Italy, Spain, the United Kingdom, and the United States. People with symptomatic onset HD (PwHD) were recruited by their HD-treating physicians and categorized as early (ES), mid (MS), or advanced stage (AS) HD. Physicians provided sociodemographic and clinical information from the participant's medical records in electronic case report forms (eCRF); participants or their proxies completed online Patient Public Involvement Engagement questionnaires (PPIE-P). Patient-reported outcomes included the 5-level EQ-5D version (EQ-5D-5L), Short-Form-(SF)-36 v2 (and SF-6-Dimension [SF-6D] utility), Huntington Quality of Life Instrument (H-QoL-I), and the Work Productivity and Activity Impairment Specific Health Problem. All outcomes were summarized using descriptive statistics, and differences between disease stages were assessed by Kruskal-Wallis tests. Results: A total of 2,094 PwHD were enrolled with completed eCRFs (100%) and PPIE-P forms (n = 482, 23%). Participants' mean age was 47.3 years; they were generally evenly distributed across countries, with the majority being ES (40%) followed by MS (33%) and LS (26%). The mean EQ-5D-5L (n = 336) utility score was 0.59 (SD, 0.27), with the highest mean utility scores [SD] in ES (0.72 [0.22]) followed by MS (0.62 [0.18]) and AS (0.37 [0.30]), Discussion: The HDBOI study provides new insights into the characteristics and humanistic burden of PwHD and offers a meaningful contribution to this underserved research area.

Identifiers

PMID36540140
PMCPMC9757103

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Registered trials

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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.