Enroll-HD

Recruiting

LEARN MORE

SPONSOR

CHDI Foundation, Inc.

PARTICIPANTS

22,008

Enroll-HD is an international, longitudinal study looking at how the disease changes over time in different people. By tracking changes over the years it is hoping to better understand the course of HD. This can then lead to a quicker understanding if a new drug will be helpful leading to new therapies.  The study is open to different stages of the disease, at risk ,premanisfest, manifest or healthy controls. This will also depend on the study site.

Ages Eligible
for Study:

18 Years and older

(Adult, Older Adult)

Sexes Eligible
for Study:

All

Accepts Healthy Volunteers:

Yes

  • 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).

LOCATIONS

COUNTRIES

Austria

TRIAL SITE: Universitätsklinik Innsbruck

Address: Univ.-Klinik fur Neurologie, Anichstrasse 35 Innsbruck, 6020 Austria

CONTACT: Samuel Labrecque
Tel: +43 512504 81553

Email: samuel.labrecque@tirol-kliniken.at

Belgium

TRIAL SITE: Bruxelles – Erasme

Address: Hôpital Erasme ULB, service de neurologie Route de Lennik 808 Bruxelles, 1070 Belgium

CONTACT: Nick Alaerts
Tel: +32 (0)255 558 74

Email:nick.alaerts@erasme.ulb.ac.be

TRIAL SITE: Hôpital du Beau Vallon ASBL

Address: Hôpital du Beau Vallon Namur ASBL, Département de Neurologie Rue de Bricgniot, 205 Saint-Servais (Namur), B-5002 Belgium

CONTACT: Jean-Marie Warzee   
Tel: +32 (0)817 212 41   

Email:jm.warzee@beauvallon.be  

TRIAL SITE: Institut de Pathologie et de Génétique (IPG)

Address: Centre de Génétique Humaine IPG 25 Avenue G. Lemaître Charleroi, 6041 Belgium

CONTACT: Cécile Minet   
Tel: +32 (0)714 471 30   

Email:cecile.minet@ipg.be

TRIAL SITE: University Hospitals Leuven

Address: Herestraat 49 Leuven, 3000 Belgium

CONTACT: Isaura Vanoppen
Tel: +32 16340398

Email:isaura.vanoppen@uzleuven.be

Czech Republic

TRIAL SITE:
Vseobecná fakultní nemocnice v Praze

Address: Centrum extrapyramidových onemocnění, Neurologická klinika Všeobecná fakultní nemocnice Praha, Kateřinská 30 Prague, 120 00 Czech Republic

CONTACT: Jiri Klempir
Tel.: +42 (0)224 965 539

Email:jiri.klempir@seznam.cz

Denmark

TRIAL SITE: University Hospital of Copenhagen

Address: Hukommelsesklinikken, Afsnit 8015, Opgang 8, 1. Sal Rigshospitalet, Inge Lehmann Vej 8 København Ø, dk2100 Denmark

CONTACT: Christina Vangsted Hansen
Tel: +4535458293

Emailchristina.vangsted.hansen@regionh.dk

TRIAL SITE: University Hospital of Odense

Address: Neurologisk Afdeling N, Demensklinikken Odense Universitetshospital, J.B. Winsløws Vej 4, Indgang 1, 8. etg. Odense, 5000 Denmark

CONTACT: Lone Bonefeld
Tel: +4565415601  

Email:lone.bonefeld@rsyd.dk

France

TRIAL SITE:  Amiens-Lille – Huntington Disease competencies center

Address: CHU Amiens-Picardie – Site Sud, Service de Neurologie Avenue René Laënnec – SALOUEL Amiens, 80054 France

CONTACT: Stéphanie Blin   
Tel: +33(0)3 22 66 80 00 ext 63206

Email:blin.stephanie@chu-amiens.fr

TRIAL SITE:Angers – Huntington Disease Constituent site

Address: CHU Angers, Service de Neurologie, bâtiment Larrey 2 4 rue Larrey Angers Cedex 9, 49933 France

CONTACT:Audrey Olivier   
Tel:+33 (0)241 355 615   

Email:AuOlivier@chu-angers.fr

TRIAL SITE:Bordeaux – Huntington Disease competencies center

Address: CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale Bâtiment Ecole des Sages Femmes, 3ème étage, Place Amélie Raba Léon Bordeaux, 33076 France

CONTACT:Marie-Pierre Baudier   
Tel: +33 (0)149 814 301   

Email:marie-pierre.baudier@chubordeaux.fr

TRIAL SITE: Clermont-Ferrand – Huntington Disease competencies center

Address: Service de Neurologie, Hôpital Gabriel Montpied CHRU Clemont-Ferrand, 58 r Montalembert Clermont Ferrand, 63000 France

CONTACT: Stéphane Bernard
Tel:+33 4 73 75 23 12  

Email:s_bernard@chu-clermontferrand.fr

TRIAL SITE:Créteil Henri Mondor- National Reference site for Huntington Disease

Address: CHU Henri Mondor, Assistance Publique Hôpitaux de Paris, Service de neurologie 51 av de Mal De Lattre de Tassigny Créteil, 94000 France

CONTACT: Celine Taquan Joannet   
Tel: +33 (0)149 814 301  

Email:celine.taquan-joannet@aphp.fr

TRIAL SITE:Lille-Amiens – Huntington Disease Constituent site

Address: Centre de Référence pour la maladie de Huntington Clinique de neurologie, Hôpital Roger Salengro, CHU de Lille, 1 Rue Emile Laine Lille, 59037 France

CONTACT:Melanie Lafage
Tel: +33 (0)320 445962 poste: 30583

Email:melanie.lafage@chu-lille.fr

TRIAL SITE: Marseille- Huntington Disease competencies center

Address: Service de Neurologie et Pathologie du Mouvement du Pr Azulay, 9ème étage CHU Timone, Assistance Publique Hôpitaux de Marseille, 264 rue Saint-Pierre Marseille, 13005, France

CONTACT
Jean-Philippe Azulay
Tel: ++33 (0)491 384 333
Eamil:jean-philippe.azulay@ap-hm.fr

TRIAL SITE:Montpellier – Huntington Disease competencies center

Address: Service de Neurologie et CMRR, CHU Montpellier, Hôpital Gui de Chauliac 80 Avenue Augustin Fliche Montpellier, 34295 France

CONTACT:Stephanie Rahabarisoa  
Tel: +33 (0)4.67.33.04.04  

Email:stephanie.rahabarisoa@chu-montpellier.fr

TRIAL SITE:Paris ICM – Huntington disease constituent site

Address: Institut du Cerveau et de la Moëlle épinière, Hôpital Pitié-Salpêtrière 47 Boulevard de l’Hôpital Paris, 75013 France

CONTACT:Hortense Hurmic   
Tel: +33 (0)157 274 222

Email:hortense.hurmic@icm-institute.org

TRIAL SITE: Pierre Wertheimer Neurological Hospital, Lyon  

Address: Hôpital Pierre Wertheimer, Hôpital Neurologique
59 Boulevard Pinel, Bron
69500 France

CONTACT:Christine Tranchant 
Tel: +33 (0)388 128 532

Email:christine.tranchant@chru-strasbourg.fr

TRIAL SITE: Strasbourg – Huntington Disease competencies center

Address: CHRU Strasbourg, Hopital de Hautepierre, Service de Neurologie
1 Avenue Moliere
Strasbourg, 67098
France

CONTACT:Brigitte Pouzet   
Tel: +33 (0)561 779 125

Email:brigitte.pouzet@inserm.fr

TRIAL SITE: Toulouse – Huntington Disease competencies center

Address: Centre d’Investigation Clinique,, Hôpital Pierre-Paul Riquet CHU Purpan, 2ème étage Hall D, Place Baylac TSA 40031 Toulouse, 31059 France

CONTACT:Brigitte Pouzet   
Tel: +33 (0)561 779 125

Email:brigitte.pouzet@inserm.fr

.

Germany

TRIAL SITE:  Charite – Universitätsmedizin Berlin

Address:Charite – Universitätsmedizin Berlin Abteilung für Neuropsychiatrie Chariteplatz 1 Berlin, 10117 Germany

CONTACT: Maria Gemenetzi  
Tel: 49(0)30450-617-337

Email:maria.gemenetzi@charite.de

TRIAL SITE: George-Huntington- Institut GmbH

Address: George-Huntington-Institut, R&D Campus, Technologiepark Münster Wilhelm-Schickard-Straße 15 Münster, 48149 Germany

CONTACT: Bea Beule
Tel.: +49 251 7887880

Email:bea.beule@ghi-muenster.de

TRIAL SITE: Katholisches Klinikum Bochum gGmbH

Address: Ruhr-Universität Bochum – Neurologisches Forschungszentrum, St. Josef Hospital Gudrunstr. 56 Bochum, 44791 Germany

CONTACT: Barbara  Kaminski
Tel:+49(0)2345092703

Email: b.kaminski@klinikum-bochum.de

TRIAL SITE: kbo-Isar-Amper-Klinikum Taufkirchen (Vils)

Address: Isar-Amper-Klinikum – Klinik Taufkirchen (Vils) Bräuhausstraße 5 Taufkirchen (Vils), 84416 Germany

CONTACT:Petra Niedermeier  
Tel: +49 (0)808 493 4376

Email: petra.niedermeier@kbo.de

TRIAL SITE: RWTH Universitätsklinikum Aachen

Address:Universitätsklinikum Aachen – Neurologische Klinik Pauwelsstraße 30 Aachen, 52074 Germany

CONTACT:Rena Overbeck
Tel:+49 (0) 241 80 89826

Email: ronneken@ukaachen.de

TRIAL SITE: Technische Universität München

Address: Technische Universität München – Abteilung Neurologie Ismaninger Straße 22 München, 81675 Germany

CONTACT:Antje Lüsebrink   
Tel: +49 89 4140 4693   

Email:antje.luesebrink@tum.de   

TRIAL SITE:Universitätsklinikum Bonn

Address: Klinik für Parkinson, Schlaf- und Bewegungsstörungen
Venusberg-Campus 1
Bonn, 53127
Germany

CONTACT:Carmen Sachtleben  
Tel:+49 228-287-13196

Email:carmen.sachtleben@ukbonn.de

TRIAL SITE: Universitätsklinikum Dresden

Address: Klinik und Poliklinik für Neurologie Fetscherstr. 74 Dresden, 1307 Germany

CONTACT:Björn Falkenburger
Tel: +49 (0)351 458 2532

Email: bjoern.falkenburger@uniklinikum-dresden.de

TRIAL SITE: Universitätsklinikum Erlangen

Address: Abteilung für Molekulare Neurologie Schwabachanlage 6 Erlangen, 91054 Germany

CONTACT:Susanne Seifert   
Tel: +49 91318544751   

Email: susanne.seifert@uk-erlangen.de

TRIAL SITE: Universitätsklinikum Freiburg

Address: Klinik für Neurologie und Neurophysiologie /Neurozentrum Breisacher Straße 64 Freiburg, 79106 Germany

CONTACT:Gerit Kammel   
Tel:+49 761 270 54750   

Email: gerit.kammel@uniklinik-freiburg.de

TRIAL SITE:  Universitätsklinikum Ulm, Abt. Neurologie

Address: Huntington Ambulanz Ulm Oberer Eselsberg 45/1 Ulm, 89081 Germany

CONTACT:Yury Seliverstov
Tel: +49 731 50063080

Email: yuri.seliverstov@uni-ulm.de

TRIAL SITE: Universitätsklinikum Würzburg – Neurologische Klinik und Poliklinik

Address: Universitätsklinikum Würzburg – Neurologische Klinik und Poliklinik Josef-Schneider-Straße 11 Würzburg, 97080 Germany

CONTACT:Christine Leypold   
Tel:+49 931 201 23510   

Emailleypold_c@ukw.de

TRIAL SITE:Universität zu Lübeck

Address: UKSH Campus Lübeck, ZSE Haus D1 Ratzeburger Allee 160 Lübeck, 23538 Germany

CONTACT:Jenny Schmalfeld   
Tel:+49 451 3101 8214   

Email:jenny.schmalfeld@neuro.uni-luebeck.de

Ireland

TRIAL SITE: Beaumont Hospital

Address: Beaumont Hospital Beaumont Road Dublin, DD1 9SY Ireland

CONTACT:Amy Carroll

Email: carroa24@tcd.ie

Italy

TRIAL SITE:Azienda Ospedaliero Universitaria Careggi

Address: Cubo 3 – Laboratorio Neurogenetica 6 Viale Gaetano Pieraccini Firenze, Toscana 50139 Italia

CONTACT:Camilla Ferrari  
Tel: +39 3357886298

Email:camilla.ferrari@unifi.it

TRIAL SITE:Azienda Ospedaliere Sant’Andrea

Address: Via di Grottarossa 1035-1039 Rome, 00189 Italy

CONTACT: Silvia Romano   
Tel: +39 0633776044    

Email:silvia.romano@uniroma1.it

TRIAL SITE:Bari Policlinico General Hospital

Address: Azienda Ospedaliero Universitaria Consorziale Policlinico – Clinica Neurologica Amaducci – Centro di riferimento Regionale per la Malattia di Huntington Piazza Giulio Cesare, 11 Bari, 70124 Italy

CONTACT:Marianna Delussi   
Tel: +39 3485384939

Email: m.delussi@gmail.com

TRIAL SITE:IRCCS Neuromed

Address:IRCCS Neuromed – Centro Malattie Rare del sistema nervoso e degli organi di senso
Via Atinense 18
Pozzilli, Isernia 86077
Italy

CONTACT:Alba Di Pardo
Tel.: +39349 3631480

Email:alba.dipardo@neuromed.it

TRIAL SITE: Lega Italiana Ricerca Huntington (LIRH)

Address:(Fondazione LIRH onlus) Via Varese, 31 Rome, 185 Italy

CONTACT:Barbara D’Alessio
Tel.: +39 3272870465

Email:barbara.dalessio@lirh.it

TRIAL SITE:Milan Genetic – Fondazione IRCCS Istituto Neurologico Carlo Besta

Address:Unit of Genetics of Neurodegenerative and Metabolic Diseases – Fondazione IRCCS Istituto Neurologico Via Celoria, 11 Milano, 20133 Italy

CONTACT:Lorenzo Nanetti
Tel.: +39 0223942519

Email:lorenzo.nanetti@istituto-besta.it

TRIAL SITE: Università Cattolica del Sacro Cuore

Address: UCSC Policlinico Agostino Gemelli 7° piano ala E- stanza E743 E743C, Largo Agostino Gemelli n° 8 Rome, 00168 Italy

CONTACT:Flavia Torlizzi   
Tel: +39 338.8069142    

Email:flavia.torlizzi@policlinicogemelli.it

TRIAL SITE: Università degli Studi di Genova (DINOGMI)

Address: Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili dell’Università degli Studi di Genova (DINOGMI) Largo Paolo Daneo, 3. Genova, 16132 Italy

CONTACT:Roberta Marchese   
Tel: +39 0103538968    

Email:rmarchese@neurologia.unige.it

TRIAL SITE:University of Bologna

Address: IRCCS Istituto delle Scienze Neurologiche di Bologna UOC Clinica Neurologica – Ospedale Bellaria via Altura 3 Bologna, 40139 Italy

CONTACT:Cesa Scaglione   
Tel: +39 0514966919    

Email:cesa.scaglione@unibo.it

TRIAL SITE: University of Naples – Neurologia Federico II

Address:University of Naples – Neurologia Federico II Via Seregio Pansini 5-edifico 17 Napoli, 80138 Italy

CONTACT:Claudia Colella
Tel: +393349369415    

Email:claudiacolella7@gmail.com

Netherlands

TRIAL SITE: Leiden University Medical Centre

Address:Leiden University Medical Centre – Neurology Outpatient Clinic Albinusdreef 2 Leiden, 2333 ZA Netherlands

CONTACT:Steffanie Brama
Tel: +31 (0)71 526 1218

Email: s.c.m.brama@lumc.nl

TRIAL SITE:Maastricht University Medical Centre

Address: Maastricht University Medical Center 25 P. Debyelaan Maastricht, Limburg 6229 HX Netherlands

CONTACT:Manuela Hommel   
Tel: +31(0)43-3877676    

Email:mhm.hermans@mumc.nl

TRIAL SITE: University Medical Center Groningen

Address:University Medical Center Groningen Hanzeplein 1, Poortweg 4, 1st floor (Dept. of Neurology/Neuropsychology (AB50) Groningen, 9713 GZ Netherlands

CONTACT:Amber Heegers
Tel: +31 50 361 4666

Email: a.heegers@umcg.nl

Norway

TRIAL SITE: Oslo-RH Nevrologisk poliklinikk

Address: Nevrologisk poliklinikk; Rikshospitalet Sognsvannsveien 20 Oslo, 0372 Norway

CONTACT:Marleen van Walsem
Tel: +47 (0)230 158 06

Email:mwalsem@ous-hf.no

Poland

TRIAL SITE:Gdansk – COPERNICUS Podmiot Leczniczy Sp. z o.o., Szpital św. Wojciecha,
Oddział Neurologiczny

Address: aleja Jana Pawła II 50, Gdańsk, Polska Gdansk, Pomorze (województwo pomorskie) 80-462 Poland

CONTACT:Agnieszka Konkel   
Tel: +48 (0)609 952 555    

Email:konkel1989@gmail.com

TRIAL SITE:Indywidualna Praktyka Lekarska Daniel Zielonka

Address: Grochowska 110, Poznań, Polska Poznan, Wielkopolska (województwo wielkopolskie) 60-335 Polska

CONTACT:Aleksander Szepke
Tel: +48798870488

Email:aleksander.szepke@gmail.com

TRIAL SITE:Krakow – Krakowska Akademia Neurologii

Address: 7 Ariańska Kraków, małopolskie 31-505 Polska

CONTACT:Karolina Tomala
Tel: +48 663 506 016 

Email:karolina.tomala@neurologia.org.pl

TRIAL SITE:
Warsaw – IPiN

Address: 9 Jana III Sobieskiego Warszawa, mazowieckie 02-957 Polska

CONTACT:Karolina Ziora-Jakutowicz   
Tel: +48 (0)690 831 022    

Email:jakutowicz@ipin.edu.pl

Portugal

TRIAL SITE:Gulbenkian Institute of Molecular Medicine, Lisbon

CONTACT: Ines Dias
Tel: +351 925865042

Email:neurociencias.movimento@gmail.com

Spain

TRIAL SITE:Hospital Universitari de Bellvitge

Address: Hospital Universitari de Bellvitge Consultes Externes de Neurologia Barcelona, 08907 Spain

CONTACT:Jordi Bas Minguet
Tel: +34(0)933 357011

Email:jbas@bellvitgehospital.cat

TRIAL SITE:Burgos Foundation for Health Research

Address: Hospital Universitario de Burgos Avenida Islas Baleares 3 Burgos, Castilla-León 09006 Spain

CONTACT: Natividad Mariscal   
Tel: +34 (0)947 256 533    

Email:namariscal@saludcastillayleon.es

TRIAL SITE:Complejo Hospitalario de Navarra

Address: Genética – Hospital Virgen del Camino Calle de Irunlarrea, s/n Pamplona, Navarra 31008 Spain

CONTACT:Begoña Gurpegui Díaz   
Tel: +34 (0)848 429 990

Email:begona.gurpegui.diaz@navarra.es

TRIAL SITE: Hospital de Cruces

Address: Cruces University Hospital, Service of Neurology Cruces Sq Barakaldo, País Vasco 48903 Spain

CONTACT:Maria Angeles Acera Gill   
Tel: +34 (0)946 006 363    

Email:m.angeles.aceragil@osakidetza.net

TRIAL SITE: Fundacion Hospital Universitario La Fe

Address: Hospital Universitario y Politécnico La Fe Avenida Fernando Abril Martorell número 106 Valencia, Comunidad Valenciana 46026 Spain

CONTACT:Francisco Casterá Brugada   
Tel: +34 (0)645 134 892    

Email:franciscocasteraenroll@gmail.com

TRIAL SITE: Fundación para la Investigación y la Innovación Biosanitaria del Principado de Asturias

Address: Avenida de Roma s/n, Hospital Universitario Central de Asturias. Edificio de Consultas 2. planta, Oviedo Asturias, 33011

CONTACT:Santiago Fernández Menéndez
Tel: +34 985 10 61 00   

Email:sfmenendez@gmail.com

TRIAL SITE:Hospital Clínico y Provincial de Barcelona

Address: Fundacion Clinic per a La Recerca Biomedica Villarroel, 170 Barcelona, Cataluña 08036 Spain

CONTACT:Pilar Santacruz   
Tel: +34 (0)932 275 4003 088    

Email:psanta@clinic.cat

TRIAL SITE:Hospital de la Santa Creu i Sant Pau

Address: C/ Mas Casanoves 90 – Bloque A, Planta -2 (AGDAC) Barcelona, Cataluña 08025 Spain

CONTACT: Andrea Horta   
Tel: +34 (0)935 567 253    

Email:ahorta@santpau.cat

TRIAL SITE:Hospital Infanta Cristina (Badajoz)

Address: Hospital Universitario de Badajoz; Neurología. Cuarta Planta
Ctra. de Portugal s/n.
Badajoz, Extremadura 06080,Spain

CONTACT: Patrocinio García Moreno   
Tel: +34 (0)637 566 300    

Email:patrocinio.garciam@externos.salud-juntaex.es

TRIAL SITE:Hospital Mare de Déu de la Mercè

Address: Avda Jordá 10 Barcelona, Cataluña 08035 Spain

CONTACT:Patricia Vaquero Casado
Tel: 0034934185826    

Email:pvaqueroc.merced@hospitalarias.es

TRIAL SITE:Fundación Jiménez Díaz

Address: Avenida de los Reyes Católicos, 2 Neurología. 1ª planta, Consulta 19 Madrid, Comunidad de Madrid 28040 España

CONTACT:Noelia Rodríguez Martínez   
Tel: +34 (0)689 463 417   

Email:noe-rodriguez@hotmail.com

TRIAL SITE:Hospital Universitario Ramón y Cajal

Address: Hospital Ramon y Cajal, Servicio de Neurologia. Planta 7D, Carretera de Colmenar Km 9.100 s/n, Madrid, 28034

CONTACT:Julia Pérez Yenes  
Tel: 0034913368263   

Email:jperezy@salud.madrid.org

TRIAL SITE:Hospital Son Espases

Address:Carretera de Valldemosa 79 Palma, Illes Balears 07120 Spain

CONTACT:Mónica Rodríguez   
Tel: +34 (0)658 886 467    

Email:psicologa.huntington@gmail.com

Switzerland

TRIAL SITE:Schweizerisches Huntington-Kompetenzzentrum NeuroZentrum Siloah

Address:Worbstrasse 312 Gümligen, Kanton Bern, 3073 Switzerland

CONTACT:Jessica Köhli   
Tel: +41 31 352 20 70    

Email:jessica.koehli@siloah.ch

TRIAL SITE:UniversitätsSpital Zürich

Address: UniversitätsSpital Zürich, Klinik für Neurologie Frauenklinikstrasse 26 Zürich, 8091 Switzerland

CONTACT:Hans Jung
Tel: +41 44 255 55 20

Email:hans.jung@usz.ch

United Kingdom

TRIAL SITE:Betsi Cadwaladr University Health Board

Address: Betsi Cadwaladr University, Heddfan Unit Croesnewydd Road, Wrexham Maelor Hospital Wrexham, LL13 7TD UK

CONTACT:Julia Roberts   
Tel: +44 (0)1248 383091    

Email:julia.roberts@bangor.ac.uk

TRIAL SITE:Bristol Brain Centre

Address: Elgar House, Southmead Hospital, Southmead Road, Westbury-on-Trym Bristol, BS 10 5NB UK

CONTACT:Anya Soonderpershad  

Email:anya.soonderpershad@nbt.nhs.uk

TRIAL SITE:Cardiff University

Address: Cardiff University Hadyn Ellis Building – Maindy Road Cardiff, CF24 4HQ UK

CONTACT:Alison Johnson
Tel: +44 (0)2920 687613

Email:alison.johnson@wales.nhs.uk

TRIAL SITE:Northumberland, Tyne & Wear NHS Foundation Trust

Address: NIHR Clinical Research Network, North East and North Cumbria, Northumberland Tyne and Wear NHS Foundation Trust, St Nicholas Hospital Newcastle – Upon- Tyne, NE3 3XT UK

CONTACT:Sarah Edwards   
Tel: +44 (0)912 467 392    

Email:sarah.edwards@ntw.nhs.uk

TRIAL SITE:Fife Health Board

Address:Whyteman’s Brae Hospital, Whyteman’s Brae
Kirkcaldy, Fife, KY1 2ND
UK

CONTACT:Nicola Johns   
Tel: +44 (0) 1592 647993    

Email:nicola.johns@nhs.net

TRIAL SITE:Greater Glasgow Health Board

Address: Glasgow Clinical Research Facility, Level 5, Institute of Neurological Sciences Queen Elizabeth University Hospital, 1345 Govan Road Glasgow, G51 4TF UK

CONTACT:Helen Bannister  
Tel: +44(0)141 232 7600 

Email:helen.bannister@ggc.scot.nhs.uk

TRIAL SITE:Leeds

Address: Department of clinical genetics. 3rd floor Chapel Allerton Hospital Chapeltown Road Leeds, LS7 4SA UK

CONTACT:Naz Azam  

Email:naz.azam@nhs.net

TRIAL SITE:Leicestershire

Address: Stewart House, The Rise Leicester, LE194SL UK

CONTACT:Dawn Freire-Patino
Tel: +44(0)-150-956161    

Email:dawn.freire-patino@nhs.net

TRIAL SITE:Lothian Health Board

Address: South East of Scotland, Clinical Genetic Service, Molecular Medicine Centre Western General Hospital, Crewe Road Edinburgh, EH4 2XU UK

CONTACT:Emma Fleming   
Tel: +44(0)131 537 3804

Email:emma.fleming@nhslothian.scot.nhs.uk

TRIAL SITE:Manchester University NHS Foundation Trust

Address: Manchester Centre for Genomic Medicine Manchester, M13 9WL UK

CONTACT:Helen Chadwick   
Tel: +44(0)161 701 2541    

Email:helen.chadwick@mft.nhs.uk

TRIAL SITE:Oxford University Hospitals NHS Trust

Address: Room 4401D Level 4 Main Hospital John Radcliffe Hospital Headley Way – Headington Oxford, OX3 9DU UK

CONTACT:Zara Skitt   
Tel: +44 (0)1865 234309    

Email:zara.skitt@ouh.nhs.uk

TRIAL SITE:Plymouth

Address: Research Office, Level 2 MSCP, Bircham Park Offices Morlaix Drive Plymouth, PL6 8BQ UK

CONTACT:Emma King
Tel: +44 (0)1752 432845  

Email:e.king6@nhs.net

TRIAL SITE:Royal Devon and Exeter NHS Foundation Trust

Address: Royal Devon and Exeter Hospital Room F8, Bowmoor House Exeter, EX25DS UK

CONTACT:Jessica Prado Mota   
Tel: +44(0)1392 404081  

Email:jpradomota@nhs.net

TRIAL SITE:Sheffield Children’s NHS Foundation Trust

Address: Outpatients Department 2, Northern General Hospital Herries Road Drive Sheffield, S5 7AU UK

CONTACT:Pauline Bayliss   
Tel:+44(0)114 2260828    

Email:pauline.bayliss@sch.nhs.uk

TRIAL SITE:Southampton University Hospitals NHS Trust

Address: Wellcome Clinical Research Faciliy, LEVEL C Mailpoint 218 Southampton General Hospital, Tremona Road Southampton, SO16 6YD UK

CONTACT:Natalie Saad
Tel: +44 (0)2381206132

Email:natalie.saad@uhs.nhs.uk

TRIAL SITE:St. Georges

Address: St George’s University of London – Dr Nayana Lahiri SW Thames Regional Genetics Service Cranmer Terrace London, SW17 0RE UK

CONTACT:Hae-Ree Seo
Tel: +44 (0)20 8725 0571

Email:haeree.seo@stgeorges.nhs.uk

TRIAL SITE:Tayside Health Board

Address: Scottish Huntington’s Association, Room 3010 East Day Home, Kings Cross Hospital, Clepington Road Dundee, DD3 8EA UK

CONTACT:Paula Mcfadyen   
Tel:+44 (0) 1382 424172    

Email:paula.mcfadyen@nhs.net

TRIAL SITE:The Barberry National Centre for Mental Health

Address:The Barberry National Centre for Mental Health, 25 Vincent Drive, Birmingham, B15 2FG UK

CONTACT:Elsa Benn
Tel: +44 (0)121 3014337    

Email:e.benn@nhs.net

TRIAL SITE:The Walton Centre NHS Foundation Trust

Address:The Walton Centre Foundation Trust Neuroscience Research Centre – Fazakerley, Lower Lane Liverpool, L9 7LJ UK

CONTACT:Jenni Burns
Tel: +44(0)151 556 3389

Email:jenni.burns3@nhs.net

TRIAL SITE:University College of London

Address:Huntington’s Disease Research Group 10-12 Russell Square, 2nd floor, Russell Square House London, WC1B 5EH UK

CONTACT:Kate Fayer
Tel: +44 (0)2031087483

Email:k.fayer@ucl.ac.uk

TRIAL SITE:University of Aberdeen

Address: Department of Clinical Genetics, Ground Floor Ashgrove House, Foresterhill Aberdeen, AB25 2ZA UK

CONTACT:Stella Sihlabela   
Tel: +44 (0) 1224 550024    

Email:stella.sihlabela@nhs.scot

TRIAL SITE:University of Cambridge

Address: John Van Geest Centre for Brain Repair ED Adrian Building, Forvie Site, Robinson Way Cambridge, CB2 0PY UK

CONTACT:Amy Evans  
Tel: +44 (0) 1223 331160

Email:ahe28@cam.ac.uk

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siRNA

A way of silencing genes using specially designed molecules of RNA – like DNA but made of only a single strand – that target the message molecules in cells and tell them not to make a certain protein

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phenoptype

Phenotype refers to an individual’s observable traits, such as height, eye color and blood type. A person’s phenotype is determined by both their genomic makeup (genotype) and environmental factors.

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oxidative seres

an imbalance between unstable molecules called “free radicals” and protective “antioxidants” in your body

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Metabolism & bioenergetics

describe how your body turns food into fuel and uses that energy to live. 

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Small Molecule

a tiny chemical compound, much smaller than big biological structures like proteins, that can easily travel inside our cells to act as medicine (like aspirin or ibuprofen), a building block (like glucose), or a signaling tool in the body, often taken as pills because they’re easy to absorb and distribute

 

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Nucleic acid

(DNA and RNA) are the essential information-carrying molecules in all life, acting like blueprints that store and transmit genetic instructions for building and operating cells, directing everything from growth to protein production, and passing traits from parents to offspring.

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SNP-single nucleotide polymorphisms

a single-letter spelling difference in a gene. SNPs, pronounced ‘snips’, are common and most don’t change the function of the gene.

 
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at risk

You do not know if you carry the genetic mutation for HD gene 

 
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TFC-total functional capacity

A standardized rating scale for function in HD, used to assess capacity to work, handle finances, perform domestic chores and self-care tasks.
Scores range from 0 to 13, with higher scores indicating better functional capacity. 

 
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Double-blinded

 means that neither the participant nor the clinical trial doctor can choose or know the group the participant is in until the trial is over. This approach helps to prevent bias.

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Open label

A trial in which the patient and doctor know what drug is being used. Open label trials are susceptible to bias through placebo effects.

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Gene therapy

a technique that aims to treat or prevent diseases by modifying a person’s genes. It involves introducing, removing, or changing genetic material (DNA or RNA) within a patient’s cells.

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UHDRS- Unified Huntington Disease Rating Scale

A standardized neurological examination that aims to provide a uniform assessment of the clinical features of HD

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CAG repeat

The stretch of DNA at the beginning of the HD gene, which contains the sequence CAG repeated many times, and is abnormally long in people who will develop HD

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Wild-type

the opposite of ‘mutant’. Wild-type huntingtin, for example, is the ‘normal’, ‘healthy’ protein

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Tolerabilty

How well a person can handle a treatment without having serious or uncomfortable side effects.

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Striatum

Part of the brain that  coordinates multiple aspects of cognition, including both motor and action planning, decision-making, motivation, reinforcement, and reward system.

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Randomized allocation

A type of allocation strategy in which participants are assigned to the arms of a clinical trial by chance.

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Radioligand

a radioactive substance that binds to a specific target in the body, allowing visualization of that target’s distribution and activity

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Protein

Protein builds, maintains, and replaces the tissues in your body. The building blocks of life.

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Premanifest / Prodromal

Prior to onset or diagnosis of movement symptoms.

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Placebo

A placebo is a dummy medicine containing no active ingredients. The placebo effect is a psychological effect that causes people to feel better even if they’re taking a pill that doesn’t work.

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PK - Pharmacokinetics

The movement of drugs through the body

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PD - Pharmacodynamics

The body’s biological response to drugs

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PET scan

Positron emission tomography which produces detailed 3-dimensional images of the inside of the body.

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Neuron

Brain cells that store and transmit information

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MRI

Magentic resonance imaging: A technique using powerful magnetic fields to produce detailed images and visualizes the structure of organs, tissues, and bones 

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mHTT

Mutant huntingtin protein. The protein produced by the faulty HD gene.

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Manifest

after HD diagnosis, or when symptoms are already showing

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Longitudinal study

A study where each participant is looked at several times over a time period – unlike a cross-sectional study, where each participant is looked at only once

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HTT

one abbreviation for the gene that causes Huntington’s disease. The same gene is also called HD and IT-15

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fMRI

functional MRI:As with MRI, a technique using powerful magnetic fields  but focusing on brain function by measuring and mapping changes in blood flow, revealing which areas of the brain are active during specific tasks or cognitive processes

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CSF - cerebrospinal fluid

A clear fluid produced by the brain, which surrounds and supports the brain and spinal cord.

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Efficacy

A measure of whether a treatment works or not

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ASO(Antisense oligonucleotides)

A type of gene silencing treatment in which specially designed DNA molecules are used to switch off a gene

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Biomarker

a test of any kind – including blood tests, thinking tests and brain scans – that can measure or predict the progression of a disease like HD. Biomarkers may make clinical trials of new drugs quicker and more reliable

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BDNF

Brain-derived neurotrophic factor: a growth factor that may be able to protect neurons in HD.

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Allele

one of the two copies of a gene

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Plasma

Liquid component of the blood.

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Gene

The basic unit of heredity passed from parent to child. Genes are made up of sequences of DNA and are arranged, one after another, at specific locations on chromosomes in the nucleus of cells.

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Phase

Clinical trial phases are different stages of research that assess the safety and effectiveness of a new medical treatment or intervention in humans.

Each phase has a specific goal and involves a different number of participants. Generally, there are 4 phases (I-IV), with Phase I focusing on safety and dosage, Phase II on efficacy and side effects, Phase III on comparing the new treatment with standard treatments, and Phase IV on long-term safety monitoring.