A Prospective Registry Study in a Global Huntington's Disease Cohort A CHDI Foundation Project

UCI Specialty Area: Neurology

Principal Investigator: Anna E Morenkova

Official Title: Enroll-HD: A Prospective Registry Study in a Global Huntington's Disease Cohort A CHDI Foundation Project

A Study On:

Brain - Neurologic/ Psychologic

Huntingtons Disease

Study Description

The primary objective of Enroll-HD is to develop a comprehensive repository of prospective and systematically collected clinical research data (demography, clinical features, family history, genetic characteristics) and biological specimens (blood) from individuals with manifest HD, unaffected individuals known to carry the HD mutation or at risk of carrying the HD mutation, and control research participants (e.g., spouses, siblings or offspring of HD mutation carriers known not to carry the HD mutation). Enroll-HD is conceived as a broad-based and long-term project to maximize the efficiencies of non-clinical research and participation in clinical research. With 158 active clinical sites in 19 countries, Enroll-HD is now the largest HD database available and is accessible to any interested researcher - visit www.enroll-hd.org/for-researchers/access-data/ to learn more.

Eligibility

Carriers: This group comprises the primary study population and consists of individuals who carry the HD gene expansion mutation.
Controls: This group comprises the comparator study population and consists of individuals who do not carry the HD expansion mutation.
These two major categories can be further subdivided into six different subgroups of eligible individuals:
Manifest/Motor-manifest HD: Carriers with clinical features that are regarded in the opinion of the investigator as diagnostic of HD.
Pre-Manifest/-Motor-manifest HD: Carriers without clinical features regarded as diagnostic of HD.
Genotype Unknown: This group includes a first or second degree relative (i.e., related by blood to a carrier) who has not undergone predictive testing for HD and therefore has an undetermined carrier status.
Genotype Negative: This group includes a first or second degree relative (i.e., related by blood to a carrier) who has undergone predictive testing for HD and is known not to carry the HD expansion mutation.
Family Control: Family members or individuals not related by blood to carriers (e.g., spouses, partners, caregivers).
Community Controls: Individuals unrelated to HD carriers who did not grow up in a family affected by HD. Data collected from community controls will be used for generation of normative data for sub-studies.
Participant status will be captured in the study database using 2 variables: 1) Investigator Determined Status: this will be based on clinical signs and symptoms and genotyping performed as part of medical care, and will be updated at every visit; and 2) Research Genotyping Status: this will be based on genotyping conducted as part of Enroll-HD study procedures. Based on research genotyping, participants will be reclassified under this variable from Genotype Unknown to 'Carriers' or 'Controls'. Investigators and participants will be blinded to this reclassification.

Individuals who do not meet inclusion criteria,
Individuals with choreic movement disorders in the context of a negative test for the HD gene mutation.
For Community Controls: those individuals with a major central nervous system disorder will be excluded (e.g. stroke, Parkinson's disease, multiple sclerosis, etc.).
Participants under 18 may be eligible to participate (if they have juvenile-onset HD).

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University of California, Irvine - Study Information Sheet

UCI Center for Clinical Research Potential Participant Database

Lead Researcher
Maheswari Senthil, MD
UCI Center for Clinical Research

In the instance of parental permission, “You” refers to “Your child.”

Please read the information below and ask questions about anything that you do not understand. A
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You are being asked to participate in a clinical research potential participant database to identify
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time. If you decide to withdraw from this database you should notify the research team
immediately.

You are eligible to participate in this study if you may be interested in participating in a research trial at UCI Health

We would like to interview you to learn more about your eligibility for current clinical research studies at UCI. The interview will last about 5-30 minutes, depending on the extent of your medical history.

Possible risks/discomforts associated with the database are hearing about potential clinical research studies that may not be of interest to you, invasion of your privacy, or a potential breach of confidentiality.

There are no direct benefits from participation in the database. However, this database may help inform you on clinical research studies that you may be eligible for. Participation in UCI clinical research studies help us gain important data and knowledge that may lead to improved treatment options for people with similar conditions to you in the future.

There are no alternative procedures available. The only alternative is not to participate in this study.

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The research team, authorized UCI personnel, and regulatory entities, may have access to your study records to protect your safety and welfare.

While the research team will make every effort to keep your personal information confidential, it is possible that an unauthorized person might see it. We cannot guarantee total privacy.

Future Research Use
Researchers will use your information to conduct this study. Once the study is done using your information, we may share them with other researchers so they can use them for other studies in the future. We will not share your name or any other private identifiable information that would let the researchers know who you are. We will not ask you for additional permission to share this de-identified information

Data Retention - In accordance with UC Office of the President policy, information will be retained for 10 years after the end of the calendar year in which the research is completed.

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