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

Journal

Neurology. Clinical practice
ISSN: 2163-0402
Titre abrégé: Neurol Clin Pract
Pays: United States
ID NLM: 101577149

Informations de publication

Date de publication:
Dec 2022
Historique:
received: 23 12 2021
accepted: 13 09 2022
entrez: 21 12 2022
pubmed: 22 12 2022
medline: 22 12 2022
Statut: ppublish

Résumé

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. 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. 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]), The HDBOI study provides new insights into the characteristics and humanistic burden of PwHD and offers a meaningful contribution to this underserved research area.

Sections du résumé

Background and Objectives UNASSIGNED
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 UNASSIGNED
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 UNASSIGNED
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 UNASSIGNED
The HDBOI study provides new insights into the characteristics and humanistic burden of PwHD and offers a meaningful contribution to this underserved research area.

Identifiants

DOI: 10.1212/CPJ.0000000000200095 PMID: 36540140 PMC: PMC9757103
pubmed: 36540140
doi: 10.1212/CPJ.0000000000200095
pii: CPJ-2022-200094
pmc: PMC9757103
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e172-e180

Informations de copyright

Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Idaira Rodriguez Santana (I)

HCD 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 Frank (S)

HCD 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 Doherty (M)

HCD 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 Willock (R)

HCD 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 Hamilton (J)

HCD 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 Hubberstey (H)

HCD 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 Stanley (C)

HCD 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 Vetter (L)

HCD 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 Winkelmann (M)

HCD 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 Dolmetsch (RE)

HCD 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 Li (N)

HCD 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 Ratsch (S)

HCD 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 Ali (TM)

HCD 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.

Classifications MeSH