Dystonia Research

Dystonia Research

Research Updates

Volunteers needed for the following Dystonia research studies!

blue lineFunctional screening tests in cervical dystonia – Westmead Hospital NSW

Do you have cervical dystonia and can walk without assistance?

The Physiotherapists at Westmead Hospital are conducting a study into walking and balance in people with cervical dystonia. They are looking for adults with cervical dystonia who can walk unassisted to attend 1 – 2 sessions with a physiotherapist at Westmead Hospital. During these sessions, participants will be asked to perform a series of walking and balance tests, and fill in some questionnaires. Results from this study will be used to help design new physiotherapy treatments for people with cervical dystonia.

Click on links to Study flyer and information sheet for further details.

Functional screening tests in cervical dystonia Flyer 

Participant Information Sheet Clinical Trial – Functional screening tests in cervical dystonia

Clinical Trial Contact: If you would like more information or are interested in joining the study please contact Physiotherapist and Associate investigator, Melani Boyce, on melani.boyce@health.nsw.gov.au or phone 0407 987 386.

This research project has been approved by the Western Sydney Local Health District Human Research Ethics Committee and permission has been sought by researcher for ADSG to add to website and social media.

blue lineThe following studies or clinical trials are running at Monash Health (Victoria)

Investigating attention and decision-making in motor disorders

What is the research about?

You are invited to take part of the a study at Monash Health that has been designed to explore how the brain is processing information in different disorders of movement—tremor, dystonia and Parkinson’s—using a computerised decision-making task. Please refer to the Participation information document for further details.   Participant Information Sheet

What does it involve?

A one-off assessment (lasting 2–3 hours) involving:

  • Questionnaire completion
  • Memory test
  • Computer-based visual decision-making task

Where does it take place? Monash Medical Centre in Clayton, Melbourne. Travel and parking expenses are covered.

I’m interested. How do I find out more?

Contact Dr Jen Nagao, neurology doctor and study coordinator, via telephone: 0421 698 380 or email: Jennifer.Nagao@monashhealth.org

Exploring the interaction between the brain and the mind in dystonia

What is the research about?

The study has been designed to explore the interaction between the brain and the mind in dystonia, taking a particularly close look at movement, and how this may be used to improve diagnosis and treatment.

What does it involve?

A one-off assessment (lasting around 3 hours) involving:
• Questionnaire completion
• Rating scales and questions relating to your dystonia
• Movement tests (e.g. finger tapping and writing) while wearing special non-invasive sensors       attached to the skin

Where does it take place?

Monash Medical Centre in Clayton, Melbourne

I’m interested. How do I find out more?

Contact Dr Rachel Newby, neurology doctor and study coordinator, via mobile: 0450 597 626 or email: rachel.newby@monashhealth.org

This project  or studies has been approved by Monash Human Research Ethics Committee.

Related links: A kinematic analysis of finger tapping in dystonia

Other Links: Self-assessed psychological symptoms, fatigue and depersonalization in dystonia

blue lineCervical Dystonia Non-invasive Brain Stimulation Study – Clinical Neurostimulation Laboratory (UTS in Sydney)

Recent studies using technologies such as non-invasive brain stimulation to stimulate particular areas of the brain have shown emerging trends illustrating the potential to make a meaningful impact on quality of life in people with cervical dystonia. This study will investigate the effects of non-invasive brain stimulation to the cerebellum at the base of the brain on performance of a finger tracking task in people with CD and age and gender matched controls. People with CD will undergo five repeated sessions to assess the effects on their dystonia severity and quality of life. The research will determine if cerebellar stimulation has the potential to be used as a future treatment for some people with CD.

This study is being conducted by Professor Lynley Bradnam and Dr Alana McCambridge from the Clinical Neurostimulation Laboratory, Discipline of Physiotherapy at University of Technology Sydney (UTS), Professor Teresa Kimberley, University of Minnesota, USA and Professor Sheila Lennon, Professor of Physiotherapy at Flinders University.

Link to study invitation and info sheet: 

Transcranial direct current stimulation Study Letter of Invitation UTS 

Transcranial Direct Current Stimulation ethics hrec infosheet UTS

Video: ABC News 24 – Dystonia treatment

Research abstracts related to Direct Current Stimulation

Cerebellar Intermittent Theta-Burst Stimulation and Motor Control Training in Individuals with Cervical Dystonia – December 2016 

Anodal Direct Current Stimulation of the Cerebellum Reduces Cerebellar Brain Inhibition but Does Not Influence Afferent Input from the Hand or Face in Healthy Adults – 2015. Full Study at Frontiers Human Neuroscience

Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia – 2015

Direct Current Stimulation of Primary Motor Cortex and Cerebellum and Botulinum Toxin a Injections in a Person With Cervical Dystonia – 2014

Non-invasive cerebellar stimulation in dystonia (access to full PDF) – 2013

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Garvan Institute of Medical Research – Cervical dystonia study 

Do you have a family history of cervical dystonia or developed dystonia before 30 years old?

The Garvan Institute of Medical Research is running a clinical study sequencing the genomes of people with Cervical Dystonia to identify the genes involved in developing the condition.

If you are interested in participating in the study please contact foundation@garvan.org.au for more info or your doctor can refer you to see the neurologist leading the study, Dr Kishore Kumar, at the Neurogenetics Clinic at the Royal North Shore Hospital (Neurology, Royal North Shore Hospital, St Leonards, NSW, 2065 (Fax: 0294631058). 

More info on their Facebook page

Have you seen this article that relates to this study? Dystonia – Medical research into forgotten neurological disorder reignited

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Dystonia research studies at Westmead Hospital (Sydney)

There are two research studies running at Westmead Hospital in Sydney. Please read the information provided for further details on the studies and if you would like to participate.

1. Movement and postural control in dystonia patients

A research study to determine if dystonia is due to abnormality in this area of the brain, leading to abnormal postures and relatively preserved fine motor movement. The study is being conducted by A/Prof Victor Fung, Neurology Department, Westmead Hospital, and will form the basis of a thesis by Dr Florence Chang.

Purpose of study

The purpose is to investigate whether during postural control tasks, the muscle and brain activity is increased, respectively, compared to fine motor movements, in patients with focal dystonia. We hope by understanding the cause of dystonia better, we can produce more effective and long lasting treatment for this condition.

Who will be invited to enter the study?

You are invited to participate in this study because you suffer from a form of focal dystonia, such as writer’s cramp or cervical dystonia. If you agree to participate in this trial, you will then be asked to undergo the following procedures in the two visits. At the first visit , you will undergo the following procedures in this particular order:

1. Surface electromyography (EMG)
2. Transcranial magnetic stimulation (TMS) study

At the second visit, functional magnetic resonance imaging study of the brain will be performed if safe to do so, after completion of a safety questionnaire.

Contact details for further information

Dr Florence Chang

Working hours Telephone No – 02 9845 8908

Email address: florence.chang@health.nsw.gov.au

2. Dystonia Coalition Project

This is a research study on patients diagnosed with a primary dystonia. This study focuses on the dystonias, a group of neurological disorders characterised by twisting movements and odd postures. The overall goal is to develop a better understanding of these diseases so that we may improve the treatment of affected patients.

The study is being conducted by the Department of Neurology Westmead Hospital. The study is part of an international collaborative study sponsored by the National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS) and the Office of Rare Disease Research (ORDR).

Purpose of the study

There is one purpose to this study. It aims to create a “repository” or an organised collection used for future research on dystonia and other diseases. The repository will store biospecimens, videos, and clinical information. Biospecimens include things like blood, DNA, and cell lines (a group of cells grown from a single body cell in a laboratory) from your body. Westmead hospital and other research centers will work together to put in information, videos, and samples from about ten thousand adults. These adults include people who have dystonia or related disorders. Researchers around the world will be able to use information, videos, and samples from all participants to do research that may lead to new tests and treatments. Your videos may be used to create teaching programs that will help medical professionals administer neurological examinations or use specific rating scales.

If your dystonia is secondary to taking medications or to another disorder, you will not be able to participate in this study. It must be at least 2 months since your last botulinum toxin injection or your injections could have taken place earlier on the same day as your study visit. Being in a research study does not take the place of routine physical examinations or visits to your own doctor. You should not rely on this study to diagnose or treat medical problems.

You will be asked to complete questionnaires/interviews, have a neurological examination (may be videotaped), provide a blood sample and contact you in the future for more information about your health by phone, mail or email.

Contact details

This is a summary of the study and please contact the researcher for full details of study and what it involves.

Dr Florence Chang

Working hours Telephone No – 02 9845 8908

Email address: florence.chang@health.nsw.gov.au

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Queensland Parkinson’s Project (QPP) Dystonia Research – Griffith University and University of Queensland 

Understanding the causes of Parkinson’s disease (PD) and related disorders including Dystonia and facilitating the development of effective treatments.

Please find attached a Letter and form PDF) to recruit patients to Parkinson’s and Dystonia studies that are undergoing at Griffith University and University of Queensland, with Dr George Mellick and Dr Lucia Zacchi.

By completing and forwarding the form, you are expressing an interest in future participation in research, but with no obligation. More details included in the attachment. 

Queensland Parkinson’s Project (QPP) Dystonia Research

Related information: Dr Zacchi Interview – Summer 2016 newsletter

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Northern Sydney Health District Neuroscience Consumer Survey

This survey is now is closed.

Do you live in NSW? Have a say! The Northern Sydney Local Health District Neuroscience Network is interested in reviewing how consumers find out about, access and utilise neurological or neurosurgical care. It is important for the network to know consumers’ thoughts on services (what is working well, what is not working well, what is missing) when planning for neurological and neurosurgical service provision into the future. To provide feedback click on link to complete the anonymous survey.

Northern Sydney Health District Neuroscience Consumer Survey

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Murdoch University School of Health Professions – Developing a Best Practice Community Nursing Model for Neurological Care for Metropolitan Perth Study 

This study is now closed. Updates about project will be added.

Research Participants Needed!

Murdoch University School of Health Professions is conducting this research study and interested in hearing about the challenges after discharge from hospital and your opinions on the priorities for healthcare services to support your independence. The aim of the project is to gain a better understanding of the barriers patients with neurological conditions and their informal carers have encountered to receiving high-quality health care following discharge from hospital, and to learn about the services they need to maintain their independence and how community-neurological nurses could best support them. Participants will participate in a half-day interactive forum using the latest digital technologies to be held on 12 October 2016 at the Rise, Maylands World Cafe. Refreshments on arrival and lunch will be provided.

For more details and to check if you are eligible to participate please refer to the flyer – Developing a Best Practice Community Nursing Model for Neurological Care for Metropolitan Perth Study

Research contact: 

Dr Judith Pugh, Project Coordinator:
By phone: 9360 2398 Mobile: 0438 669 141 or Email: J.Pugh@murdoch.edu.au

blue lineGenioz Genome Study (Survey)

A “genome” is the term used to describe the complete genetic make-up of an individual (the information encoded in the DNA).
This study aims to investigate the Australian public’s expectations of personal genomics. With your contribution you will be part of a large collaborative effort to understand what genomics means to people; this will help to design future applications of the technology. A team of Australian and international researchers are working together on the Genioz study. Link: Genioz team
They are also interested in interviewing people who have or have not had a personal genomic test. At the end of the survey, you can choose to provide your details to go into a competition to win one of four gift vouchers, each worth $300.

For more info and to complete the survey – Genioz Genome Survey

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MyGene2 website

MyGene2 is a global portal through which families with rare genetic conditions who are interested in sharing their health and genetic information can connect with other families, clinicians, and researchers. The genetic cause of most rare conditions is unknown and as a result, most families who undergo exome sequencing or whole genome sequencing do not receive a diagnosis. By sharing information through MyGene2, a family can help and even participate in the discovery of new genetic conditions and the genes underlying these conditions. 

The Garvan Institute of Medical Research assisted with the website and helps families living with rare genetic disease to find others with mutations in the same gene. The aim is to support the 300+ million individuals worldwide living with rare disease to uncover a diagnosis. 

Link to join: https://www.mygene2.org/MyGene2/

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Harlie  – Human and Robot Language Interaction Experiment. This is now closed!

This project was conducted at the University of Queensland. Results were used to develop the Harlie tool in assisting to monitor voice, speech and communication abilities in people who experience impairments. Harlie  – Human and Robot Language Interaction Experiment project.  Link to updates:  Study progress in data collection.

Link to article: New app helps people with neurological conditions practise speech

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Articles and Links

Read our ADSG in Action: A look back at 2016 for more links to Dystonia research 

What happens in the brain to cause dystonia?

Genetic – whole human genome sequencing capabilities to study dystonia at Garvan Institute

A randomized trial of specialized versus standard neck physiotherapy in cervical dystonia

Results of a survey relating to the healthcare experiences of Australian adults living with rare diseases


Delays to the diagnosis of cervical dystonia – Dr David Williams and Dr Kelly Bertram

Link: Delays to the diagnosis of cervical dystonia abstract summary


Research by Professor Lynley Bradnam Discipline of Physiotherapy, University of Technology Sydney:

An exploration of the relationship between confidence in balance and fear of falling to functional independence in people with dystonia –  conducting this research with investigators Dr Li Khim Kwah from UTS, Ms Melani Boyce from the Department of Physiotherapy at Westmead Hospital, Sydney and the Department of Neurology at Westmead Hospital. The purpose of this research is to understand from people living with dystonia whether dystonia impacts on daily function and influences confidence in performing physical activities. Research like this will to better understand the effect of dystonia on function in daily life.

Investigating vision in relation to Dystonia – will have an update soon

Deconstructing dystonia

Can non-invasive brain stimulation improve dystonia?

Non-invasive stimulation of the cerebellum in focal dystonia


Studies in Parkinson’s disease and Dystonia: An Epidemiologic Perspective

Dr Anupam Datta Gupta, Consultant Physician – “Botulinum toxin injection in foot dystonia experienced by the Parkinson’s disease patients with Deep Brain Stimulation”

Modulation of neck muscle activity induced by intra-oral stimulation in humans

Cervical dystonia: effectiveness of a standardized physical therapy program; study design and protocol of a single blind randomized controlled trial

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Search for a clinical Trial

Australian New Zealand Clinical Trials Registry (ANZCTR)

Australian Clinical Trials 

CentreWatch

You can find more research updates on the Brain Foundation, the Dystonia Medical Research Foundation (DMRF)the Dystonia UK and the Dystonia Europe site.

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