Global Myoclonus Dystonia Registry & Dystonia Non-Motor Symptoms Study

• Research type

  Research Study

• Full title

  Recruitment of Myoclonus Dystonia patients to an international register, and phenotypic analysis of non-motor symptoms amongst adults with Myoclonus Dystonia

• IRAS ID

  236219

• Contact name

  Kathryn Peall

• Contact email

  Peallkj@cardiff.ac.uk

• Sponsor organisation

  Cardiff University

• Duration of Study in the UK

  15 years, 0 months, 0 days

• Research summary

  Myoclonus Dystonia (MD) is a rare childhood-onset hyperkinetic movement disorder characterised by abnormal postures and positions that can potentially impact function, daily living, and cause significant pain and psychological problems. Such problems can include:
  - Anxiety
  - Depression
  - Personality disorders
  - Suicidal tendencies

  The exact worldwide prevalence of MD is not known, however current case reports and case series have indicated a prevalence of approximately 700-1000 individuals.

  This study will aim to:
  • Establish an international registry of individuals with Myoclonus Dystonia
  • Further characterise the non-motor spectrum of symptoms in Myoclonus Dystonia
  • Use the registry as a platform for future investigations and recruitment to future studies
  • Establish a research hub to direct future research to elucidate underlying disease mechanisms, and develop novel therapeutic targets.

  Patients of all ages with MD will be invited to join the international registry. This will entail patients providing their contact details, general demographics information and some facts about their lifestyle, previous and current medications and other treatments. This will enable us to determine more accurate MD prevalence figures and to identify patients with MD who may benefit from any novel therapies in the future.

  Non-motor spectrum of symptoms, such as anxiety, depression and cognitive function, will be assessed using various online questionnaires in approximately 500 adult participants (>18 years of age) with MD, including relevant age and sex-matched healthy controls. Participants who do not have access to the internet will complete paper versions of these questionnaires.

  As the study continues, national centres will be asked to nominate a clinical lead in each country as the study is rolled out through other countries. Other native English-speaking countries will be initially involved, such as Ireland, Australia, New Zealand, Canada, and USA.

• REC name

  West Midlands - Edgbaston Research Ethics Committee

• REC reference

  18/WM/0031

• Date of REC Opinion

  6 Feb 2018

• REC opinion

  Further Information Favourable Opinion