Study of Huntington Patients in Connection With European Huntington's Disease Network (EHDN)

Study of Huntington Patients in Connection With European Huntington's Disease Network (EHDN).

REGISTRY is a multi-centre, multi-national, prospective, observational study of Huntington's disease (HD) with a control group of volunteers. It is an open-ended study which will include as many eligible participants as willing to participate. The goal of the project is to collect longitudinal data on the phenotypical characteristics of HD gene mutation carriers regardless of whether they display clinical symptoms and signs of the disease and of individuals who are part of an HD family (irrespective of their mutation carrier status), in order to:

• obtain natural history data on a wide spectrum of HD mutation carriers and individuals who are part of an HD family

• relate phenotypical characteristics

  • with genetic factors ('genetic modifiers')
  • with data derived from the study of body fluids (blood, urine - 'wet biomarker') and
  • imaging data ('dry biomarker')
• expedite identification and recruitment of participants for clinical trials
• develop and validate sensitive and reliable outcome measures for detecting onset and change over the natural course of premanifest and manifest HD which may also be potential outcome measures for use in future clinical trials and clinical care.
• plan for future research studies (observational and interventional trials aimed at better symptom control or aimed at slowing or postponing the onset and progression of HD).

Study Overview

• Status: Unknown
• Conditions: Huntington Disease

Detailed Description

To collect prospective data on the phenotypical characteristics of HD mutation carriers regardless of whether they display clinical symptoms and signs of HD and of individuals who are part of an HD family (irrespective of their mutation carrier status), in order to;

• obtain natural history data on a wide spectrum of HD patients, HD mutation carriers and individuals who are part of an HD family

• relate phenotypical characteristics with

  • genetic factors ('genetic modifiers'),
  • data derived from the study of body fluids (blood, urine - 'wet biomarker') and
  • imaging data ('dry biomarker')
• expedite identification and recruitment of participants for clinical trials
• develop and validate sensitive and reliable outcome measures for detecting onset and change over the natural course of premanifest and manifest HD, and which may also be potential outcome measures for use in future clinical trials and clinical care.
• plan for future research studies (observational and interventional trials aimed at better symptom control or aimed at slowing or postponing the onset and progression of HD).

To achieve these objectives, participants are asked to donate biosamples (blood and urine) for studies to identify genetic modifiers of HD and to establish and validate biological markers tracking the progressive course of HD; in this context a family history is requested as well in order to understand the relationships of clinical data sets and biosamples from related donors. In addition, non-mutation carrying family members of participants are asked to consider donating biosamples to serve as controls.

• Study Type: Observational
• Enrollment (Anticipated): 200

Contacts and Locations

• Study Contact: Name: Kim Manho, MD, PhD; Phone Number: +822-2072-2193; Email: kimmanho@snu.ac.kr

Study Locations

• Korea, Republic of
  • Seoul, Korea, Republic of, 110744
    • Recruiting
    • Department of Neurology, Seoul National University Hospital
    • Contact: Kim Manho, MD, PhD; Phone Number: +822-2072-2193; Email: kimmanho@snu.ac.kr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 80 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

primary care clinic

Description

Inclusion Criteria:

The following individuals may be eligible to participate

• Individuals, confirmed HD mutation carrier
• Manifest HD, without CAG testing
• HD family member at-risk, without CAG testing
• HD family member, non-HD mutation carrier
• REGISTRY-CONTROL participants: companion/individual without HD history
• REGISTRY-COMPANION (any of the above). Participants may be male or female and of any age. All participants must be able to provide consent for themselves, have a parent/guardian who can provide parental permission, or have an authorised legal representative who can provide consent.

Exclusion Criteria:

• Participants who are unable to understand the study protocol or unable to give informed consent, and have no legal representative.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Crossover
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Huntington's disease patients; Huntington's disease patients and his(/her) family
age-sex matched control; age-sex matched control about huntington patients

Collaborators and Investigators

• Sponsor: Seoul National University Hospital
• Collaborators: European Huntington's Disease Network
• Investigators: Study Chair: Kim Manho, MD, PhD, Department of Neurology, Seoul National University Hospital

Study record dates

Study Major Dates

• Study Start: May 1, 2009
• Primary Completion (Anticipated): May 1, 2015
• Study Completion (Anticipated): May 1, 2015

Study Registration Dates

• First Submitted: March 11, 2012
• First Submitted That Met QC Criteria: March 13, 2012
• First Posted (Estimate): March 14, 2012

Study Record Updates

• Last Update Posted (Estimate): March 19, 2012
• Last Update Submitted That Met QC Criteria: March 16, 2012
• Last Verified: March 1, 2012

More Information

Terms related to this study

• Keywords: European Huntington's Disease Network; Huntington patients in KOREA
• Additional Relevant MeSH Terms: Mental Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurocognitive Disorders; Genetic Diseases, Inborn; Basal Ganglia Diseases; Movement Disorders; Neurodegenerative Diseases; Dyskinesias; Heredodegenerative Disorders, Nervous System; Dementia; Cognition Disorders; Chorea; Huntington Disease
• Other Study ID Numbers: H-0902-023-271