Research
As Australia’s peak LGMD advocacy organisation, DFF is committed to supporting high quality research as well as sharing important research updates with the DFF community.
DFF Research Funding
The Daniel Ferguson Foundation has agreed to provide philanthropic support for an important natural history study for LGMD. This funding will enable an exciting project led by paediatric neurologist, Dr Ian Woodcock and a team at the Murdoch Children’s Research Institute, who are establishing robust natural history data to facilitate a better understanding of the course of LGMD, and improve trial readiness in Australia.
Dr Ian Woodcock, paediatric neurologist at the Royal Children’s Hospital, presented plans for the natural history study for children with limb girdle muscular dystrophy at the Australian and New Zealand Child Neurology Society Annual Scientific Meeting in September, 2025.
This important study has been enabled by philanthropic funds raised by the Daniel Ferguson LGMD Foundation. A great example of partnership in research.
Stay tuned for details as to how patients and clinicians from Australia can learn more about this study and get involved.
Overview
To find out how any area of research or clinical trial may apply to you or someone with LGMD that you know, it is best to ask the treating neurologist for advice.
There are several areas of research regarding LGMD currently underway and the treatment options are expected to increase over the coming decade.
Current areas of research include:
The genetic basis of LGMD
Researchers are increasing their understanding of the genes that cause LGMD and how those specific genes lead to muscle weakness. This is important to help guide future treatments
How we classify LGMD – the way in which we think about the various types of LGMD and describe them has changed over the years.
This published study outlines the classification of LGMD: https://pmc.ncbi.nlm.nih.gov/articles/PMC10381329/
Patient registries
The best way to understand how LGMD will affect an individual is for the scientific community to gather good and accurate data. Whilst the same LGMD type can affect each person differently, registries help us predict symptoms and signs and enable us to compare outcomes when a new treatment is commenced.
There are two registries—one based in Australia and one international—that are actively recruiting patients with LGMD. To learn more and sign up, please follow the links below.
Multidisciplinary management of LGMD
Researchers are looking at the best way to manage the whole person with LGMD, and this includes approaches to physiotherapy as well as respiratory and cardiac care.
Medical Treatments for LGMD
There are currently several clinical trials for treatments that may help improve the outcomes of people with LGMD, and there are other drugs in development.
To examine the potential for participation in clinical trials, you should consult your medical team.
Questions to ask your doctor if you are considering a clinical trial
- What phase is this trial and how much do we already know about this treatment in terms of safety and efficacy?
- What potential benefits or outcomes are being measured as part of this trial and how important are they to me?
- What are the risks and safety concerns of this trial that I should consider?
- What are the eligibility criteria for this trial and does this apply to me?
- Are there any medicines or therapies I need to stop to be eligible for this trial, and will that be a problem for me?
- What are the other options for management if I decide not do this trial, and what are the other options that might be emerging in the near future?
- If I take this treatment as part of a clinical trial, will it prevent me from being part of another trial at a later date?
- Will being on this trial affect any other aspects of my care or plans, such as a pending surgery, another treatment I was considering or even a travel plan I was arranging?
- Where is this trial being conducted and how will I manage any trial visits or appointments? Your treating team may be able to advise you of services to support this.
- How will participation in this trial affect other aspects of my life such as my work, education or family responsibilities and how should I prepare for this?
- Who can I speak to if I would like more information about this trial?
LGMD LITERATURE OVERVIEW – 2018-2021
There were 4 papers from the USA & Europe published between 2018-2021 relating to quality-of-life issues in people with LGMD. All were relatively small studies (46 – 134 participants), recruiting over a period of up to 6 months. No paper indicated the response rate (ie, how many people were initially approached to complete the survey/study).
The most common reported quality of life issues from all studies were:
• limitations in mobility (and requirements for mobility aids)
• difficulty performing activities of daily living (eg, toileting, grooming, personal hygiene, feeding)
• social role limitations (participating in social activities with family & friends)
• fatigue
• pain
• emotional distress.
Those with the greatest impact were:
• fatigue
• weakness
• loss of independence.
There are several validated quality of life questionnaires that have been used in these LMGD studies. They include:
• SF36
• Individualised Neuromuscular Quality of Life Questionnaire
• Epworth Sleepiness Scale
• Hamilton Depression Scale
• Krupp’s Fatigue Severity Scale
References:
Hunter M et al 2019. Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most. Muscle & Nerve, 60(4): 419-424.
Jacques MF et al 2019. Quality of life in adults with muscular dystrophy. Health Quality of Life Outcomes 17(1):121
Kovalchick LV, Heatwole C et al 2021. Patient reported quality of life in limb girdle muscular dystrophy. https://doi.org/10.1016/j.nmd.2021.11.002
Peric M et al 2018. Quality of life in adult patients with limb-girdle muscular dystrophies. Acta Neurologica Belgica 118(2018) 243-250.
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