Enroll -HD: A Prospective Registry Study in a Global Huntington's Disease Cohort

Huntington's Disease Clinical Trial

Official title:

Enroll -HD: A Prospective Registry Study in a Global Huntington's Disease Cohort

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01574053
• Other study ID #: Enroll -HD
• Status: Recruiting
• Start date: July 2012
• Est. completion date: January 2062

Study information

• Verified date: February 2024
• Source: CHDI Foundation, Inc.
• Contact: Noopur Modi
• Email: Info[@]Enroll-HD.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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 information / eligibility

• Status: Recruiting
• Enrollment: 35000
• Est. completion date: January 2062
• Est. primary completion date: January 2062
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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).

Related Conditions & MeSH terms

• Huntington Disease
• Huntington's Disease

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
CHDI Foundation, Inc.

Countries where clinical trial is conducted

United States,  Argentina,  Australia,  Austria,  Belgium,  Canada,  Chile,  Colombia,  Denmark,  France,  Germany,  Ireland,  Italy,  Netherlands,  New Zealand,  Poland,  Portugal,  Spain,  Switzerland,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Motor Assessments: Unified Huntington's Disease Rating Scale (UHDRS) 99 Motor, UHDRS '99 Diagnostic Confidence Level	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.	through study completion, an average of 1 year
Primary	Functional Assessments: UHDRS '99 Total Functional Capacity, UHDRS '99 Functional Assessment Scale, UHDRS '99 Independence Scale	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.	through study completion, an average of 1 year
Primary	Problem Behaviors Assessment-Short (PBA-s)	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.	through study completion, an average of 1 year
Primary	Cognitive Assessments: Symbol Digit Modality Test; Stroop Color Naming; Stroop Word Reading; Categorical Verbal Fluency	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.	through study completion, an average of 1 year