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Later Stage HD Assessments (LSA) is an observational, multinational study aiming at developing two assessments that can be used to measure critical milestones and events during the later stages of Huntington's disease (HD). An important aspect of the evaluation will be to assess whether the assessments can be administered to a companion either in-person or remotely (i.e. by phone contact with the companion). Therefore, these assessments will be evaluated for their internal consistency, reliability and validity. Once established, these assessments may be incorporated into a large scale, global observational study of HD and/or other HD clinical studies as well as use them for planning clinical trials.
The primary objective of this study is to evaluate the internal consistency, reliability and validity of two assessments: (1) UHDRS Structured Interview of Function (SIF) that incorporates the UHDRS Total Functional Capacity, Functional Assessment Scale, and Independence Scale (UHDRS TFC, FAS and IS), and (2) the HD Clinical Status Questionnaire (HDCSQ). There will be two study parts: Part 1 will measure the performance of the UHDRS SIF assessment compared to the original UHDRS TFC, FAS and IS using a cross-over design by collecting data from the Manifest HD gene expansion carrier participants (Manifest HDGEC Participants) and their companions (Companion Participants) via an in-person baseline visit and a follow-up visit by phone. Part 2 will assess the UHDRS SIF and the HDCSQ using a cross-sectional design by collecting data from the Companion Participants via a follow-up visit by phone. Participants of Part 1 are eligible to participate in Part 2.
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| Measure | Description | Time Frame |
|---|---|---|
| The UHDRS SIF ratings | The equivalence of the original UHDRS function scales (TFC, FAS and IS) and the UHDRS SIF will be evaluated using a cross-over design study, with two baseline measurements and one follow up measurement. We will use ICC (Intraclass Correlation Coefficient) and Lin's correlation coefficient will be used to measure the agreement between raters across Participants. | 3 weeks |
| Clinimetric properties of the UHDRS SIF | To assess the clinimetric properties of the UHDRS SIF we will use Classical Test Theory (CTT) and Item Response Theory (IRT) | 3 weeks |
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Inclusion Criteria:
Participants must meet all the following inclusion criteria to participate in this study:
All Participants
Manifest HDGEC Participants
1. Age≥18 years 2. A person who, in his/her opinion, has sufficient interface and knowledge of the Manifest HDGEC Participant's capabilities and daily activities 3. Acceptable to the Manifest HDGEC Participant and the Site Investigator or the Site Investigator's designees
Exclusion Criteria:
People who meet the following criteria will be excluded from participating in this study:
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Manifest HDGEC Participants: Manifest HDGEC Participants must be participants in the Enroll-HD study. Manifest HDGEC Participants will be recruited from English-speaking study sites participating in the Enroll-HD study.
Companion Participants: Companions Participants will be identified for Manifest HDGEC Participants and asked to participate. A Companion Participant's participation for a Manifest HDGEC participant is mandatory.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jamie Levy | Contact | +1-609-945-9600 | jamie.levey@enroll-hd.org |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The Board of Trustees of the University of Alabama for the University of Alabama at Birmingham | Birmingham | Alabama | 35294 | United States |
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| Regents of the University of California, San Diego | La Jolla | California | 92037 | United States |
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| Regents of the University of California, Los Angeles | Los Angeles | California | 90095 | United States |
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| Rocky Mountain Movement Disorders Center, P.C | Englewood | Colorado | 80113 | United States |
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| Rush Universiity Medical Center | Chicago | Illinois | 60612 | United States |
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| Hereditary Neurological Disease Centre, Inc. | Wichita | Kansas | 67226 | United States |
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| Washington University | St Louis | Missouri | 63110 | United States |
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| Vanderbilt University Medical Center | Nashville | Tennessee | 37212 | United States |
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| University of Washington | Seattle | Washington | 98195 | United States |
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| The Chancellor, Masters and Scholars of the University of Cambridge | Cambridge | Cambridgeshire | CB2 0PY | United Kingdom |
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| Cardiff University | Wales | Cardiff | CF144XN | United Kingdom |
| Royal Devon and Exeter NHS Foundation Trust | Exeter | Devon | EX2 5DW | United Kingdom |
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| Poole Hospital NHS | Poole | Dorset | BH15 2JB | United Kingdom |
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| Leicestershire Partnership NHS Trust | Leicester | Leicestershire | LE2 2PL | United Kingdom |
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| Oxford University Hospitals NHS Foundation Trust | Oxford | Leicester | OX3 9DU | United Kingdom |
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| Northumberland, Tyne &Wear NHS Foundation Trust of St. Nicholas Hospital | Newcastle upon Tyne | Tyne & Wear | NE6 4QD | United Kingdom |
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| Birmingham and Solihull Mental Health NHS Foundation | Birmingham | West Midlands | B152FG | United Kingdom |
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| Leeds Teaching Hospitals NHS Trust | Leeds | Yorkshire | LS7 4SA | United Kingdom |
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| University Hospitals Plymouth NHS Trust | Plymouth | PL6 8BQ | United Kingdom |
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| Sheffield Children's NHS Foundation Trust | Sheffield | S5 7AU | United Kingdom |
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| ID | Term |
|---|---|
| D006816 | Huntington Disease |
| ID | Term |
|---|---|
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D003704 | Dementia |
| D002819 | Chorea |
| D020820 | Dyskinesias |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D003072 | Cognition Disorders |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
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