Improving Measurement and Priorities for Assessment in Clinical Trials of childhood-onset Dystonia (Dystonia IMPACT) Core Outcome Set

Hyperkinetic movement disorders, including dystonia, are a group of conditions characterised by excessive and involuntary muscle contractions, leading to abnormal postures and repetitive movements, significantly impacting on health and economic outcomes. The absence of evidence-based interventions and relevant outcome measures makes it extremely difficult for clinicians and patients/families to make informed decisions. The Dystonia IMPACT programme aims to address this gap through synthesising research outcomes and views from children, families, and professionals to develop a consensus on a core outcome set for trials in childhood-onset hyperkinetic movement disorders (for non-degenerative conditions)

Contributors

Principal Investigator: Dr Hortensia Gimeno

Hortensia Gimeno1,2, Rob Molloy1,3, Claire Higgins1,4, Khamani Edwards1, Eleanor P Redding1, Georgia Vine5, Ellie Simpson1, Enna Thea Kul-Want1, Bhooma R. Aravamuthan6, Paula S C Chagas7, Marina de Koning-Tijssen8,9, Hendriekje Eggink8,9, Darcy Fehlings10, Emmanuel Roze11, Adrienne Harvey12, Jean-Pierre Lin13, Daniel E. Lumsden13, Jonathan W. Mink14, Eva Maria Navarrete Muñoz15, Belen Perez Dueñas16, Peter Rosenbaum17, Kirsty Stewart18, Katherine Knighting19

1Childhood Participation Lab, Centre for Bone and Joint Health, Blizard Institute, Queen Mary University of London, London UK
2The Royal London Hospital and Tower Hamlets Community Children’s Therapy Services, Barts Health NHS Trust, London, UK
3Islington Additional Needs and Disability Service, Whittington Health NHS Trust, London, UK
4Children’s Integrated Therapies Team at Oxleas Foundation NHS Trust and Willow Dene School, London, UK
5ccupational Therapy, Human and Health Sciences, University of Huddersfield, UK
6Washington University School of Medicine, St. Louis, United States
7Faculty of Physical Therapy, Universidade Federal de Juiz de Fora, Minas Gerais, Brazil
8Department of Neurology, University Medical Center Groningen (UMCG), University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherland
9Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG), Groningen, The Netherlands
10Holland Bloorview Kids Rehabilitation Hospital, Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto Ontario, Canada
11Sorbonne university, Paris Brain Institute, INSERM, CNRS, AP-HP Salpêtrière Hospital, Paris, France
12Neurodisability and Rehabilitation, Murdoch Children’s Research Institute, Royal Children's Hospital, Parkville, Vic., Australia
13Complex Motor Disorder Service, Evelina London Children's Hospital, Guy's and St Thomas’ NHS Foundation Trust, London, United Kingdom
14Dystonia Medical Research Foundation, Chicago, IL, USA
15Occupational Therapy Research Group (InTeO), Department of Surgery and Pathology, Miguel Hernández University, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Alicante, Spain.
16Department of Pediatric Neurology, Vall d’Hebron Hospital and Research Institute, Universitat Autònoma de Barcelona, Spain.
17Department of Pediatrics, CanChild Centre, McMaster University, Hamilton, Canada.
18The Children's Hospital at Westmead, Sydney, NSW, Australia.
19Faculty of Health, Social Care and Medicine, Edge Hill University, Ormskirk, England, UK.

Further Study Information

Current Stage: Ongoing
Date: September 2024 - September 2028
Funding source(s): Funded by National Institute for Health Research Advanced Fellowship (Gimeno) NIHR303636


Health Area

Disease Category: Child health

Disease Name: Hyperkinetic movement disorders, Dystonia

Target Population

Age Range: 6 - 18

Sex: Either

Nature of Intervention: Drug, Non-surgical, Nonpharmacological , Surgery

Stakeholders Involved

- Charities
- Clinical experts
- Consumers (caregivers)
- Consumers (patients)
- Families
- Methodologists
- Patient/ support group representatives
- Researchers
- Service providers

Study Type

- COS for clinical trials or clinical research
- COS for practice
- Recommendations for outcome measures (measurement/how)

Method(s)

- Consensus meeting
- Delphi process
- Interview
- Literature review
- Survey

Design: Mixed methods, three phased, modified Delphi study

Phase 1: Development of Delphi Questionnaire:
a. Scoping review: mapping outcomes to the International Classification of Functioning
b. Qualitative interviews with children/young people and parents/carers: open-ended questioning and creative methods (i.e., photography, drawing) (face-to-face/online)
c. International online survey with professionals.

Phase 2: Three-round international online Delphi questionnaire with children/young people, parents/carers, and professionals, informed by the scoping review, qualitative interviews and professional survey.

Phase 3: Agreement on the final list of outcomes and measures.
Establish core outcome set after reviewing Delphi findings through two expert panels (i)children/young people and family/carers, (ii)professionals.

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