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

NCT ID: NCT01554033

Last Updated: 2012-03-19

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 200 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2009-05-31
• Study Completion Date: 2015-05-31

Brief Summary

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).

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.

Conditions

Huntington Disease

Study Design

• Observational Model Type: CASE_CROSSOVER
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Huntington's disease patients

Huntington's disease patients and his(/her) family

No interventions assigned to this group

age-sex matched control

age-sex matched control about huntington patients

No interventions assigned to this group

Eligibility Criteria

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.

• Minimum Eligible Age: 1 Year
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

European Huntington's Disease Network

NETWORK

Sponsor Role: collaborator

Seoul National University Hospital

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Kim Manho, MD, PhD

Role: STUDY_CHAIR

Department of Neurology, Seoul National University Hospital

Locations

Department of Neurology, Seoul National University Hospital

Seoul, Seoul, South Korea

Site Status: RECRUITING

Countries

South Korea

Central Contacts

Kim Manho, MD, PhD

Role: CONTACT

kimmanho@snu.ac.kr

+822-2072-2193

Facility Contacts

Kim Manho, MD, PhD

Role: primary

kimmanho@snu.ac.kr

+822-2072-2193

Other Identifiers

H-0902-023-271

Identifier Type: -

Identifier Source: org_study_id