Clinical trial NCT01574053: Enroll -HD: A Prospective Registry Study in a Global Huntington's Disease Cohort
Official title: Enroll -HD: A Prospective Registry Study in a Global Huntington's Disease Cohort
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Huntington's Disease
Keywords: Huntington's Disease
Huntington Disease
Juvenile Huntington's Disease
Registry
Cohort
CHDI
Lead sponsor: CHDI Foundation, Inc.
Sponsor class: OTHER
First posted: 2012-04-10
Enrollment: 35000
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with HD and their family members are recruited from specialty clinics (Human Genetics, Neurology, Psychiatry) that advise and treat people affected by HD. In addition, in some areas community clinics and neurologists who see HD patients recruit participants for this study. Participants also receive information about the study through websites, clinical practices, support groups, advocacy newsletters, etc. and place a direct request to be considered for participation in the study. Community controls are identified by study site staff (using advertisements, flyers and newsletters) with the support of the Enroll-HD operational staff.

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.

Eligibility criteria: Inclusion Criteria:

* 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.

Exclusion Criteria:

* 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).

Primary outcomes:
measure: Motor Assessments: Unified Huntington's Disease Rating Scale (UHDRS) 99 Motor, UHDRS '99 Diagnostic Confidence Level
timeFrame: through study completion, an average of 1 year
measure: Functional Assessments: UHDRS '99 Total Functional Capacity, UHDRS '99 Functional Assessment Scale, UHDRS '99 Independence Scale
timeFrame: through study completion, an average of 1 year
measure: Problem Behaviors Assessment-Short (PBA-s)
timeFrame: through study completion, an average of 1 year
measure: Cognitive Assessments: Symbol Digit Modality Test; Stroop Color Naming; Stroop Word Reading; Categorical Verbal Fluency
timeFrame: through study completion, an average of 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama
state: Alabama
city: Phoenix
country: United States
facility: St. Joseph's Hospital and Medical Center
state: Arizona
city: Irvine
country: United States
facility: University of California - Irvine Medical Center
state: California
city: Loma Linda
country: United States
facility: Loma Linda Medical Center
state: California
city: Los Angeles
country: United States
facility: University of California - Los Angeles
state: California
city: Sacramento
country: United States
facility: University of California - Davis
state: California
city: San Diego
country: United States
facility: University of California - San Diego
state: California
city: San Francisco
country: United States
facility: University of California - San Francisco
state: California
city: Englewood
country: United States
facility: Cenexel Rocky Mountain Clinical Research, LLC
state: Colorado
city: Farmington
country: United States
facility: University of Connecticut
state: Connecticut
city: Washington
country: United States
facility: Georgetown University
state: District of Columbia
city: Gainesville
country: United States
facility: University of Florida Board of Trustees
state: Florida
city: Miami
country: United States
facility: University of Miami
state: Florida
city: Tampa
country: United States
facility: University of South Florida, HDSA Center of Excellence at USF
state: Florida
city: Atlanta
country: United States
facility: Emory University, Wesley Woods Health Center
state: Georgia
city: Augusta
country: United States
facility: Georgia Health Sciences University
state: Georgia
city: Chicago
country: United States
facility: Northwestern University
state: Illinois
city: Chicago
country: United States
facility: University of Chicago
state: Illinois
city: Chicago
country: United States
facility: Rush University Medical Center
state: Illinois
city: Rockford
country: United States
facility: University of Illinois College of Medicine at Rockford
state: Illinois
city: Indianapolis
country: United States
facility: Indiana University
state: Indiana
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: Kansas City
country: United States
facility: University of Kansas Medical Center
state: Kansas
city: Wichita
country: United States
facility: Hereditary Neurological Disease Center
state: Kansas
city: Louisville
country: United States
facility: University of Louisville
state: Kentucky
city: Baltimore
country: United States
facility: University of Maryland School of Medicine
state: Maryland
city: Baltimore
country: United States
facility: Johns Hopkins University
state: Maryland
city: Boston
country: United States
facility: Boston University Medical Center
state: Massachusetts
city: Boston
country: United States
facility: Beth Israel Deaconess Medical Center
state: Massachusetts
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: Detroit
country: United States
facility: Wayne State University
state: Michigan
city: Minneapolis
country: United States
facility: Hennepin County Medical Center
state: Minnesota
city: Saint Louis
country: United States
facility: Washington University in St. Louis
state: Missouri
city: Omaha
country: United States
facility: University of Nebraska Medical Center
state: Nebraska
city: Las Vegas
country: United States
facility: Cleveland Clinic - Las Vegas
state: Nevada
city: Camden
country: United States
facility: Cooper University Hospital
state: New Jersey
city: New Brunswick
country: United States
facility: Rutgers, the State University of New Jersey
state: New Jersey
city: Albany
country: United States
facility: Albany Medical College
state: New York
city: New York
country: United States
facility: Columbia University
state: New York
city: Rochester
country: United States
facility: University of Rochester
state: New York
city: Durham
country: United States
facility: Duke University
state: North Carolina
city: Winston-Salem
country: United States
facility: Wake Forest School of Medicine
state: North Carolina
city: Fargo
country: United States
facility: Sanford Health
state: North Dakota
city: Cincinnati
country: United States
facility: University of Cincinatti
state: Ohio
city: Cleveland
country: United States
facility: Cleveland Clinic
state: Ohio
city: Columbus
country: United States
facility: The Ohio State University
state: Ohio
city: Portland
country: United States
facility: Oregon Health and Science University
state: Oregon
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
city: Pittsburgh
country: United States
facility: University of Pittsburgh
state: Pennsylvania
city: Columbia
country: United States
facility: University of South Carolina
state: South Carolina
city: Memphis
country: United States
facility: University of Tennessee Health Science Center
state: Tennessee
city: Nashville
country: United States
facility: Vanderbilt University Medical Center
state: Tennessee
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Houston
country: United States
facility: University of Texas Health Science Center
state: Texas
city: Salt Lake City
country: United States
facility: University of Utah
state: Utah
city: Burlington
country: United States
facility: University of Vermont
state: Vermont
city: Charlottesville
country: United States
facility: University of Virginia
state: Virginia
city: Henrico
country: United States
facility: Virginia Commonwealth University Parkinson's and Movement Disorders Center
state: Virginia
city: Richmond
country: United States
facility: Virginia Commonwealth University
state: Virginia
city: Kirkland
country: United States
facility: Booth Gardner Parkinson's Care Center (Evergreen Health)
state: Washington
city: Seattle
country: United States
facility: University of Washington Medical Center
state: Washington
city: Madison
country: United States
facility: University of Wisconsin - Madison
state: Wisconsin
city: Buenos Aires
country: Argentina
facility: Instituto de Neurociencias Buenos Aires (INEBA)
city: Westmead
country: Australia
facility: Westmead Hospital
state: New South Wales
city: Melbourne
country: Australia
facility: Monash University
state: Victoria
city: Perth
country: Australia
facility: The Neurosciences Unit - North Metropolitan Hospital
state: Western Australia
city: Parkville
country: Australia
facility: University of Melbourne, Royal Melbourne Hospital
city: Innsbruck
country: Austria
facility: Universitatsklinik Innsbruck
city: Leuven
country: Belgium
facility: University Hospitals Leuven
state: Vlaams-Brabant
city: Bruxelles
country: Belgium
facility: Bruxelles - Erasme
city: Charleroi
country: Belgium
facility: Institut de Pathologie et de Génétique (IPG)
city: Saint-Servais
country: Belgium
facility: Hôpital du Beau Vallon ASBL
city: Calgary
country: Canada
facility: University of Calgary, Movement Disorders Program
state: Alberta
city: Edmonton
country: Canada
facility: University of Alberta (Glenrose)
state: Alberta
city: Edmonton
country: Canada
facility: University of Alberta Hospital in Edmonton
state: Alberta
city: Vancouver
country: Canada
facility: University of British Columbia
state: British Columbia
city: Halifax
country: Canada
facility: Nova Scotia Health Authority
state: Nova Scotia
city: Markham
country: Canada
facility: Centre for Movement Disorders
state: Ontario
city: Ottawa
country: Canada
facility: The Ottawa Hospital
state: Ontario
city: Toronto
country: Canada
facility: North York General Hospital
state: Ontario
city: Montreal
country: Canada
facility: CHUM Hospital of Notre Dame
state: Quebec
city: Santiago
country: Chile
facility: CETRAM
city: Medellín
country: Colombia
facility: Universidad de Antioquia, Grupo de Neurociencias
state: Antioquia
city: Bogotá
country: Colombia
facility: Servicios Médicos MS, Clínica de Marly
state: Cundinamarca
city: Aarhus
country: Denmark
facility: University Hospital of Aarhus
city: Copenhagen
country: Denmark
facility: University Hospital of Copenhagen
city: Odense
country: Denmark
facility: University Hospital of Odense
city: Strasbourg
country: France
facility: Hôpitaux Universitaires de Strasbourg Hôpital de Hautepierre-Service de Neurologie
state: Alsace Lorraine
city: Amiens
country: France
facility: CHU Amiens-Picardie
city: Angers
country: France
facility: CHU Angers, Centre de Référence Maladies Neurogénétiques
city: Bordeaux
country: France
facility: Bordeaux - Huntington Disease competencies center
city: Clermont-Ferrand
country: France
facility: CHU Gabriel-Montpied
city: Créteil
country: France
facility: Hôpital Henri Mondor, Centre d'Investigation Clinique
city: LILLE Cedex
country: France
facility: Lille-Amiens - Huntington Disease Constituent site
city: Marseille
country: France
facility: Hôpital La Timone
city: Montpellier
country: France
facility: CHU Montpellier
city: Paris
country: France
facility: Institut du Cerveau et de la Moelle Epinière
city: Toulouse
country: France
facility: Hôpital Purpan, Centre d'Investigation Clinique
city: Aachen
country: Germany
facility: University Hospital Aachen
city: Berlin
country: Germany
facility: University of Berlin
city: Bochum
country: Germany
facility: St. Josef und St. Elisabeth Hospital
city: Dresden
country: Germany
facility: University Hospital Carl Gustav Carus Dresden
city: Erlangen
country: Germany
facility: University Hospital Erlangen
city: Freiburg
country: Germany
facility: University Medical Center Freiburg
city: Kassel
country: Germany
facility: Paracelsus Elena Klinik Kassel
city: Lübeck
country: Germany
facility: University Hospital Schleswig-Holstein
city: Marburg
country: Germany
facility: University Hospital Giessen and Marburg
city: Munich
country: Germany
facility: Technical University of Munich
city: Münster
country: Germany
facility: George-Huntington-Institut GmbH
city: Taufkirchen
country: Germany
facility: kbo-Isar-Amper-Klinikum Taufkirchen (Vils)
city: Ulm
country: Germany
facility: University Hopsital of Ulm
city: Würzburg
country: Germany
facility: University Hospital of Wuerzburg
city: Dublin 9
country: Ireland
facility: Beaumont Hospital
state: Republic Of Ireland
city: Milan
country: Italy
facility: Fondazione IRCCS Istituto Neurologico Carlo Besta - Genetics
state: MI
city: Bari
country: Italy
facility: Bari Policlinico General Hospital
city: Bologna
country: Italy
facility: IRCCS Istituto delle Scienze Neurologiche di Bologna
city: Genoa
country: Italy
facility: Università degli Studi di Genova (DINOGMI)
city: Milan
country: Italy
facility: Fondazione IRCCS Istituto Neurologico Carlo Besta - Neurology
city: Napoli
country: Italy
facility: University of Naples
city: Rome
country: Italy
facility: Università Cattolica del Sacro Cuore
city: Rome
country: Italy
facility: Lega Italiana Ricerca Huntington (LIRH)
city: Rome
country: Italy
facility: Azienda Ospedaliera Sant'Andrea
city: Groningen
country: Netherlands
facility: University Medical Center Groningen
city: Leiden
country: Netherlands
facility: Leiden University Medical Centre
city: Maastricht
country: Netherlands
facility: Clinical Trial Center Maastricht B.V.
city: Auckland
country: New Zealand
facility: Auckland City Hospital
city: Christchurch
country: New Zealand
facility: New Zealand Brain Research Institute at University of Otago
city: Wellington
country: New Zealand
facility: Wellington Hospital
city: Gdansk
country: Poland
facility: Copernicus Podmiotem Leczniczym sp. z o.o.
city: Katowice
country: Poland
facility: Krakowska Akademia Neurologii Sp. z o.o
city: Kraków
country: Poland
facility: Krakow - Krakowska Akademia Neurologii
city: Poznan
country: Poland
facility: Solumed Centrum Medyczne
city: Warsaw
country: Poland
facility: Medical University of Warsaw
city: Warsaw
country: Poland
facility: Institute of Psychiatry and Neurology, Warsaw
city: Amadora
country: Portugal
facility: Hospital Prof Doutor Fernando Fonseca
city: Coimbra
country: Portugal
facility: Hospital Universitário de Coimbra
city: Lisbon
country: Portugal
facility: Central Lisbon Hospital
city: Lisbon
country: Portugal
facility: Hospital de Santa Maria / Instituto de Medicina Molecular
city: Porto
country: Portugal
facility: Hospital Universitário de São João
city: Badajoz
country: Spain
facility: Hospital Infanta Cristina, Badajoz
city: Barakaldo
country: Spain
facility: Hospital de Cruces
city: Barcelona,
country: Spain
facility: Hospital Universitari de Bellvitge
city: Barcelona
country: Spain
facility: Hospital de la Santa Creu i Sant Pau
city: Barcelona
country: Spain
facility: Hospital Mare de Déu de la Mercè
city: Barcelona
country: Spain
facility: Fundacion Clinic per a La Recerca Biomèdica
city: Burgos
country: Spain
facility: Hospital Universitario de Burgos
city: Madrid
country: Spain
facility: Hospital Universitario Ramón y Cajal
city: Madrid
country: Spain
facility: Fundación Jiménez Díaz
city: Palma De Mallorca
country: Spain
facility: Hospital Son Espases
city: Pamplona
country: Spain
facility: Complejo Hospitalario de Navarra
city: Valencia
country: Spain
facility: Fundacion Hospital Universitario La Fe
city: Gümligen
country: Switzerland
facility: Siloah AG
city: Zürich
country: Switzerland
facility: University Hospital Zurich
city: Exeter
country: United Kingdom
facility: Royal Devon and Exeter NHS Foundation Trust
state: Devon
city: Narborough
country: United Kingdom
facility: Leicestershire Partnership
state: Leicestershire
city: Bristol
country: United Kingdom
facility: North Bristol NHS Trust
state: UK
city: Kirkcaldy
country: United Kingdom
facility: Fife Health Board
state: UK
city: Wrexham
country: United Kingdom
facility: Betsi Cadwaladr University Health Board
state: UK
city: Aberdeen
country: United Kingdom
facility: University of Aberdeen
city: Birmingham
country: United Kingdom
facility: Birmingham and Solihull Mental Health NHS Foundation Trust
city: Cambridge
country: United Kingdom
facility: University of Cambridge
city: Cardiff
country: United Kingdom
facility: Cardiff University
city: Dundee
country: United Kingdom
facility: Tayside Health Board
city: Edinburgh
country: United Kingdom
facility: Lothian Health Board
city: Glasgow
country: United Kingdom
facility: Greater Glasgow Health Board
city: Kilmarnock
country: United Kingdom
facility: Ayrshire Central Hospital
city: Larbert
country: United Kingdom
facility: NHS Forth Valley
city: Leeds
country: United Kingdom
facility: Leeds Teaching Hospitals
city: Liverpool
country: United Kingdom
facility: The Walton Centre
city: London
country: United Kingdom
facility: Guy's and St. Thomas's NHS Foundation Trust
city: London
country: United Kingdom
facility: St. George's Hospital
city: London
country: United Kingdom
facility: University College of London
city: Manchester
country: United Kingdom
facility: Central Manchester University Hospitals NHS Foundation Trust
city: Newcastle-upon-Tyne
country: United Kingdom
facility: Northumberland, Tyne & Wear NHS Foundation Trust of St. Nicholas Hospital
city: Northampton
country: United Kingdom
facility: St. Andrews Healthcare
city: Oxford
country: United Kingdom
facility: Oxford Radcliffe Hospitals
city: Plymouth
country: United Kingdom
facility: Plymouth Hospitals NHS Trust
city: Poole
country: United Kingdom
facility: Poole Hospital
city: Reading
country: United Kingdom
facility: Royal Berkshire NHS Foundation Trust
city: Sheffield
country: United Kingdom
facility: Sheffield Children's NHS Foundation Trust
city: Southampton
country: United Kingdom
facility: University Hospital Southampton
city: Stoke-on-Trent
country: United Kingdom
facility: North Staffordshire Combined Healthcare NHS Trust
city: Swindon
country: United Kingdom
facility: Avon and Wiltshire Mental Health Partnership
Study officials:
affiliation: University of Ulm
name: Bernhard G Landwehrmeyer, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: CHDI Foundation, Inc.
name: Jamie Levey
role: STUDY_DIRECTOR
References:
citation: Landwehrmeyer GB, Fitzer-Attas CJ, Giuliano JD, Goncalves N, Anderson KE, Cardoso F, Ferreira JJ, Mestre TA, Stout JC, Sampaio C. Data Analytics from Enroll-HD, a Global Clinical Research Platform for Huntington's Disease. Mov Disord Clin Pract. 2016 Jun 22;4(2):212-224. doi: 10.1002/mdc3.12388. eCollection 2017 Mar-Apr.