Enroll -HD: A Prospective Registry Study in a Global Huntington's Disease Cohort
- Conditions
- Huntington's Disease
- Registration Number
- NCT01574053
- Lead Sponsor
- CHDI Foundation, Inc.
- Brief Summary
Enroll-HD is a longitudinal, observational, multinational study that integrates two former Huntington's disease (HD) registries-REGISTRY in Europe, and COHORT in North America and Australasia-while also expanding to include sites in Latin America. More than 30,000 participants have now enrolled into the study. With annual assessments and no end date, Enroll-HD has built a large and rich database of longitudinal clinical data and biospecimens that form the basis for studies developing tools and biomarkers for progression and prognosis, identifying clinically-relevant phenotypic characteristics, and establishing clearly defined endpoints for interventional studies. Periodic cuts of the database are now available to any interested researcher to use in their research - visit www.enroll-hd.org/for-researchers/access-data/ to learn more.
- Detailed 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 more than 150 active clinical sites in 23 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 35000
- 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).
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Problem Behaviors Assessment-Short (PBA-s) through study completion, an average of 1 year The Problem Behavioral Assessment Short Version (PBA-s) will be used to perform behavioral assessments. This instrument measures frequency and severity of symptoms related to altered affect, thought content and coping styles.
Cognitive Assessments: Symbol Digit Modality Test; Stroop Color Naming; Stroop Word Reading; Categorical Verbal Fluency through study completion, an average of 1 year Cognition will be assessed using the Categorical Verbal Fluency Test, Symbol Digit Modality Test and Stroop Color and Word Reading Test. Verbal fluency is a commonly used neuropsychological test which examines the ability to spontaneously produce words orally within a fixed time span. For category fluency, words must be produced according to semantic constraints. The measure of performance used will be the number of correctly generated words within 60 seconds.
Functional Assessments: UHDRS '99 Total Functional Capacity, UHDRS '99 Functional Assessment Scale, UHDRS '99 Independence Scale through study completion, an average of 1 year The Total Functional Capacity, Functional Assessment and Independence Subscales of the UHDRS '99 will be used to assess participants' functional status. The Total Functional Capacity scale has established psychometric properties including inter-rater reliability and validity, based on radiographic measures of disease progression.
Motor Assessments: Unified Huntington's Disease Rating Scale (UHDRS) 99 Motor, UHDRS '99 Diagnostic Confidence Level through study completion, an average of 1 year The motor section of the UHDRS assesses motor features of HD with standardized ratings of oculomotor function, dysarthria, chorea, dystonia, gait, and postural stability. UHDRS 99 Motor, UHDRS Diagnostic Confidence Level.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (183)
The Ohio State University
🇺🇸Columbus, Ohio, United States
University of Pittsburgh
🇺🇸Pittsburgh, Pennsylvania, United States
North York General Hospital
🇨🇦Toronto, Ontario, Canada
Northwestern University
🇺🇸Chicago, Illinois, United States
Baylor College of Medicine
🇺🇸Houston, Texas, United States
University of Texas Health Science Center
🇺🇸Houston, Texas, United States
University of Washington Medical Center
🇺🇸Seattle, Washington, United States
University of Miami
🇺🇸Miami, Florida, United States
Indiana University
🇺🇸Indianapolis, Indiana, United States
Cleveland Clinic - Las Vegas
🇺🇸Las Vegas, Nevada, United States
University of California - San Diego
🇺🇸San Diego, California, United States
University of Cincinatti
🇺🇸Cincinnati, Ohio, United States
Duke University
🇺🇸Durham, North Carolina, United States
Hennepin County Medical Center
🇺🇸Minneapolis, Minnesota, United States
St. Joseph's Hospital and Medical Center
🇺🇸Phoenix, Arizona, United States
Wayne State University
🇺🇸Detroit, Michigan, United States
Vanderbilt University Medical Center
🇺🇸Nashville, Tennessee, United States
University of Utah
🇺🇸Salt Lake City, Utah, United States
Oregon Health and Science University
🇺🇸Portland, Oregon, United States
University of Alabama
🇺🇸Birmingham, Alabama, United States
University of South Florida, HDSA Center of Excellence at USF
🇺🇸Tampa, Florida, United States
University of Nebraska Medical Center
🇺🇸Omaha, Nebraska, United States
Boston University Medical Center
🇺🇸Boston, Massachusetts, United States
University of California - Davis
🇺🇸Sacramento, California, United States
University Hospital of Copenhagen
🇩🇰Copenhagen, Denmark
Beth Israel Deaconess Medical Center
🇺🇸Boston, Massachusetts, United States
University of Louisville
🇺🇸Louisville, Kentucky, United States
University of Michigan
🇺🇸Ann Arbor, Michigan, United States
Wake Forest School of Medicine
🇺🇸Winston-Salem, North Carolina, United States
Hospital Universitario Ramón y Cajal
🇪🇸Madrid, Spain
University of South Carolina
🇺🇸Columbia, South Carolina, United States
University of California - Los Angeles
🇺🇸Los Angeles, California, United States
University of Maryland School of Medicine
🇺🇸Baltimore, Maryland, United States
University of California - San Francisco
🇺🇸San Francisco, California, United States
University of California - Irvine Medical Center
🇺🇸Irvine, California, United States
University of Connecticut
🇺🇸Farmington, Connecticut, United States
University of Tennessee Health Science Center
🇺🇸Memphis, Tennessee, United States
University of Wisconsin - Madison
🇺🇸Madison, Wisconsin, United States
Cooper University Hospital
🇺🇸Camden, New Jersey, United States
University of Chicago
🇺🇸Chicago, Illinois, United States
Rush University Medical Center
🇺🇸Chicago, Illinois, United States
Instituto de Neurociencias Buenos Aires (INEBA)
🇦🇷Buenos Aires, Argentina
Bordeaux - Huntington Disease competencies center
🇫🇷Bordeaux, France
Hôpital La Timone
🇫🇷Marseille, France
Rutgers, the State University of New Jersey
🇺🇸New Brunswick, New Jersey, United States
Hereditary Neurological Disease Center
🇺🇸Wichita, Kansas, United States
University of Iowa
🇺🇸Iowa City, Iowa, United States
Monash University
🇦🇺Melbourne, Victoria, Australia
Georgetown University
🇺🇸Washington, District of Columbia, United States
Johns Hopkins University
🇺🇸Baltimore, Maryland, United States
University of Illinois College of Medicine at Rockford
🇺🇸Rockford, Illinois, United States
Loma Linda Medical Center
🇺🇸Loma Linda, California, United States
Cenexel Rocky Mountain Clinical Research, LLC
🇺🇸Englewood, Colorado, United States
Emory University, Wesley Woods Health Center
🇺🇸Atlanta, Georgia, United States
Columbia University
🇺🇸New York, New York, United States
Virginia Commonwealth University Parkinson's and Movement Disorders Center
🇺🇸Henrico, Virginia, United States
Cleveland Clinic
🇺🇸Cleveland, Ohio, United States
Albany Medical College
🇺🇸Albany, New York, United States
University of Rochester
🇺🇸Rochester, New York, United States
University of Virginia
🇺🇸Charlottesville, Virginia, United States
Washington University in St. Louis
🇺🇸Saint Louis, Missouri, United States
University of Pennsylvania
🇺🇸Philadelphia, Pennsylvania, United States
CHUM Hospital of Notre Dame
🇨🇦Montreal, Quebec, Canada
CHU Angers, Centre de Référence Maladies Neurogénétiques
🇫🇷Angers, France
Hôpital Henri Mondor, Centre d'Investigation Clinique
🇫🇷Créteil, France
Sanford Health
🇺🇸Fargo, North Dakota, United States
University of Vermont
🇺🇸Burlington, Vermont, United States
Georgia Health Sciences University
🇺🇸Augusta, Georgia, United States
Institut de Pathologie et de Génétique (IPG)
🇧🇪Charleroi, Belgium
Hôpital du Beau Vallon ASBL
🇧🇪Saint-Servais, Belgium
Servicios Médicos MS, Clínica de Marly
🇨🇴Bogotá, Cundinamarca, Colombia
Hôpitaux Universitaires de Strasbourg Hôpital de Hautepierre-Service de Neurologie
🇫🇷Strasbourg, Alsace Lorraine, France
CHU Gabriel-Montpied
🇫🇷Clermont-Ferrand, France
University Hospital Aachen
🇩🇪Aachen, Germany
University Medical Center Freiburg
🇩🇪Freiburg, Germany
George-Huntington-Institut GmbH
🇩🇪Münster, Germany
IRCCS Istituto delle Scienze Neurologiche di Bologna
🇮🇹Bologna, Italy
Università Cattolica del Sacro Cuore
🇮🇹Rome, Italy
Azienda Ospedaliera Sant'Andrea
🇮🇹Rome, Italy
Clinical Trial Center Maastricht B.V.
🇳🇱Maastricht, Netherlands
Universidad de Antioquia, Grupo de Neurociencias
🇨🇴Medellín, Antioquia, Colombia
University of Melbourne, Royal Melbourne Hospital
🇦🇺Parkville, Australia
Universitatsklinik Innsbruck
🇦🇹Innsbruck, Austria
CHU Amiens-Picardie
🇫🇷Amiens, France
CHU Montpellier
🇫🇷Montpellier, France
University Hospital Carl Gustav Carus Dresden
🇩🇪Dresden, Germany
Paracelsus Elena Klinik Kassel
🇩🇪Kassel, Germany
University of Calgary, Movement Disorders Program
🇨🇦Calgary, Alberta, Canada
University of Alberta (Glenrose)
🇨🇦Edmonton, Alberta, Canada
University of Alberta Hospital in Edmonton
🇨🇦Edmonton, Alberta, Canada
University of British Columbia
🇨🇦Vancouver, British Columbia, Canada
The Neurosciences Unit - North Metropolitan Hospital
🇦🇺Perth, Western Australia, Australia
Booth Gardner Parkinson's Care Center (Evergreen Health)
🇺🇸Kirkland, Washington, United States
Institut du Cerveau et de la Moelle Epinière
🇫🇷Paris, France
The Ottawa Hospital
🇨🇦Ottawa, Ontario, Canada
University Hospitals Leuven
🇧🇪Leuven, Vlaams-Brabant, Belgium
Bruxelles - Erasme
🇧🇪Bruxelles, Belgium
Centre for Movement Disorders
🇨🇦Markham, Ontario, Canada
CETRAM
🇨🇱Santiago, Chile
University Hospital of Aarhus
🇩🇰Aarhus, Denmark
University Hospital of Odense
🇩🇰Odense, Denmark
Lille-Amiens - Huntington Disease Constituent site
🇫🇷LILLE Cedex, France
St. Josef und St. Elisabeth Hospital
🇩🇪Bochum, Germany
University Hospital Erlangen
🇩🇪Erlangen, Germany
University Hospital of Wuerzburg
🇩🇪Würzburg, Germany
Beaumont Hospital
🇮🇪Dublin 9, Republic Of Ireland, Ireland
Università degli Studi di Genova (DINOGMI)
🇮🇹Genoa, Italy
Fondazione IRCCS Istituto Neurologico Carlo Besta - Neurology
🇮🇹Milan, Italy
Lega Italiana Ricerca Huntington (LIRH)
🇮🇹Rome, Italy
Nova Scotia Health Authority
🇨🇦Halifax, Nova Scotia, Canada
Westmead Hospital
🇦🇺Westmead, New South Wales, Australia
Hôpital Purpan, Centre d'Investigation Clinique
🇫🇷Toulouse, France
Technical University of Munich
🇩🇪Munich, Germany
kbo-Isar-Amper-Klinikum Taufkirchen (Vils)
🇩🇪Taufkirchen, Germany
University Hopsital of Ulm
🇩🇪Ulm, Germany
Bari Policlinico General Hospital
🇮🇹Bari, Italy
Medical University of Warsaw
🇵🇱Warsaw, Poland
Hospital Prof Doutor Fernando Fonseca
🇵🇹Amadora, Portugal
Hospital Universitário de São João
🇵🇹Porto, Portugal
Hospital Universitari de Bellvitge
🇪🇸Barcelona,, Spain
Hospital Son Espases
🇪🇸Palma De Mallorca, Spain
North Bristol NHS Trust
🇬🇧Bristol, UK, United Kingdom
University of Aberdeen
🇬🇧Aberdeen, United Kingdom
Leeds Teaching Hospitals
🇬🇧Leeds, United Kingdom
The Walton Centre
🇬🇧Liverpool, United Kingdom
Oxford Radcliffe Hospitals
🇬🇧Oxford, United Kingdom
University of Berlin
🇩🇪Berlin, Germany
Fundacion Hospital Universitario La Fe
🇪🇸Valencia, Spain
University Hospital Giessen and Marburg
🇩🇪Marburg, Germany
Leiden University Medical Centre
🇳🇱Leiden, Netherlands
Royal Devon and Exeter NHS Foundation Trust
🇬🇧Exeter, Devon, United Kingdom
Greater Glasgow Health Board
🇬🇧Glasgow, United Kingdom
NHS Forth Valley
🇬🇧Larbert, United Kingdom
Northumberland, Tyne & Wear NHS Foundation Trust of St. Nicholas Hospital
🇬🇧Newcastle-upon-Tyne, United Kingdom
St. Andrews Healthcare
🇬🇧Northampton, United Kingdom
Poole Hospital
🇬🇧Poole, United Kingdom
Sheffield Children's NHS Foundation Trust
🇬🇧Sheffield, United Kingdom
Fundación Jiménez Díaz
🇪🇸Madrid, Spain
Guy's and St. Thomas's NHS Foundation Trust
🇬🇧London, United Kingdom
University Hospital Schleswig-Holstein
🇩🇪Lübeck, Germany
Fondazione IRCCS Istituto Neurologico Carlo Besta - Genetics
🇮🇹Milan, MI, Italy
University of Naples
🇮🇹Napoli, Italy
University Medical Center Groningen
🇳🇱Groningen, Netherlands
Copernicus Podmiotem Leczniczym sp. z o.o.
🇵🇱Gdansk, Poland
Institute of Psychiatry and Neurology, Warsaw
🇵🇱Warsaw, Poland
Hospital Infanta Cristina, Badajoz
🇪🇸Badajoz, Spain
Hospital de Cruces
🇪🇸Barakaldo, Spain
Siloah AG
🇨🇭Gümligen, Switzerland
University Hospital Zurich
🇨🇭Zürich, Switzerland
Leicestershire Partnership
🇬🇧Narborough, Leicestershire, United Kingdom
Fife Health Board
🇬🇧Kirkcaldy, UK, United Kingdom
Betsi Cadwaladr University Health Board
🇬🇧Wrexham, UK, United Kingdom
Hospital de la Santa Creu i Sant Pau
🇪🇸Barcelona, Spain
Auckland City Hospital
🇳🇿Auckland, New Zealand
New Zealand Brain Research Institute at University of Otago
🇳🇿Christchurch, New Zealand
Krakow - Krakowska Akademia Neurologii
🇵🇱Kraków, Poland
Hospital Universitário de Coimbra
🇵🇹Coimbra, Portugal
Hospital Universitario de Burgos
🇪🇸Burgos, Spain
Complejo Hospitalario de Navarra
🇪🇸Pamplona, Spain
Plymouth Hospitals NHS Trust
🇬🇧Plymouth, United Kingdom
North Staffordshire Combined Healthcare NHS Trust
🇬🇧Stoke-on-Trent, United Kingdom
Avon and Wiltshire Mental Health Partnership
🇬🇧Swindon, United Kingdom
Central Manchester University Hospitals NHS Foundation Trust
🇬🇧Manchester, United Kingdom
Wellington Hospital
🇳🇿Wellington, New Zealand
Krakowska Akademia Neurologii Sp. z o.o
🇵🇱Katowice, Poland
Solumed Centrum Medyczne
🇵🇱Poznan, Poland
Central Lisbon Hospital
🇵🇹Lisbon, Portugal
Hospital de Santa Maria / Instituto de Medicina Molecular
🇵🇹Lisbon, Portugal
Cardiff University
🇬🇧Cardiff, United Kingdom
Tayside Health Board
🇬🇧Dundee, United Kingdom
Lothian Health Board
🇬🇧Edinburgh, United Kingdom
Royal Berkshire NHS Foundation Trust
🇬🇧Reading, United Kingdom
St. George's Hospital
🇬🇧London, United Kingdom
Hospital Mare de Déu de la Mercè
🇪🇸Barcelona, Spain
University of Cambridge
🇬🇧Cambridge, United Kingdom
Ayrshire Central Hospital
🇬🇧Kilmarnock, United Kingdom
University Hospital Southampton
🇬🇧Southampton, United Kingdom
University College of London
🇬🇧London, United Kingdom
University of Florida Board of Trustees
🇺🇸Gainesville, Florida, United States
Virginia Commonwealth University
🇺🇸Richmond, Virginia, United States
Fundacion Clinic per a La Recerca Biomèdica
🇪🇸Barcelona, Spain
University of Kansas Medical Center
🇺🇸Kansas City, Kansas, United States
Birmingham and Solihull Mental Health NHS Foundation Trust
🇬🇧Birmingham, United Kingdom