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Winter 2020
Dear Registry Participants,

Welcome to our winter newsletter! 

In this newsletter we have a special focus on the TREAT-NMD LGMD Core Dataset work, the WMS 2020 virtual meeting and a couple of recent research publications. If you have any stories you would like to share in our next newsletter, please let us know.   

Finally, I would like to take the opportunity to thank you for your participation in the project thus far, I have enjoyed my communications with you and I wish you all the very best.  Thank you also to our steering committee members and current funders for their essential role in developing the registry.

Merry Christmas to you all, and all the very best for a safe and relaxing festive period.

Best wishes,

Registry Coordinator



The new registry website and platform is now live!
Registry Demographics Update

TGDOC Annual Curators Meeting 2020

 - from the TREAT-NMD newsletter

Thank you to all TGDOC Members who attended the TGDOC Annual Curators Meeting held online between 30th November – 2nd December. This years’ meeting was bigger than ever, with 132 registered attendees participating in 24 individual sessions, as well as an online quiz and networking time.

During the meeting, we welcomed Michela Guglieri as the new TGDOC Incoming Chair gave a fond farewell to Nathalie Goemans who has now reached the end of her six years on the TGDOC Chair troika. The entire TGDOC community would like to thank Nathalie for her dedication and hard work over the years and wish her a happy and relaxing retirement.

Special thanks also to our guest speakers Durhane Wong-Rieger (Canadian Organization for Rare Disorders) and Elizabeth Vroom (World Duchenne Organisation) who delivered the ‘Hearing the Patient Voice in Rare Disease Organizations’ session, and also to Jim Hilbert (Rochester National Registry for DM & FSHD) and Marjan Cosyns (Belgian Neuromuscular Diseases Registry) who provided insights into their own registries in the Registry Spotlight sessions.

In addition to dedicated disease subgroup breakout sessions, the meeting also included sessions on the new TGDOC Membership Process and TGDOC Publications Committee, an overview of completed Registry Enquiries and responses to the Registry Review Surveys. Updates were also provided on the Core Dataset projects for DMD, SMA and LGMD, and the Universal Registries Platform (URP) and EMA qualification process.

All sessions were recorded and are available to view on Whova for registered TGDOC Member Registries, and a full meeting report will be circulated in the new year. Please note the session recordings are not availably publicly and can only be accessed by TGDOC Members with a Confidential Disclosure Agreement in place.

Thank you to everyone who has already submitted feedback following the meeting, the feedback we have received so far has been overwhelmingly positive. If you attended the TGDOC Curators’ meeting and have not yet submitted your feedback form it is not too late to contribute, please complete the survey here.


LGMD Dataset Update

Great progress has been made with the LGMD Dataset project over the past few months. Three meetings have been held so far with the final purpose of defining the important information to be collected in the LGMD registries. These virtual meetings were attended by different stakeholders including clinical experts, registry curators, patient representatives and pharmaceutical companies and was a success in terms of attendance and participation.
The result of the three meetings is a 44-item dataset. To support this data set we are currently working on the data dictionary.

The challenge of the project has been to undertake the group work required by the project in a virtual way. For the consensus building process, different virtual resources were used to try to imitate as much as possible a face-to-face meeting.

We can only thank all the members of the working group for their participation, enthusiasm, and commitment.

We are organizing the fourth meeting planned for February 2021 when we will review the first version of the dataset and the data dictionary. We look forward to publicising the data set when it is finalised.


Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity

• COL6A3 K2483E mutation is pathogenic and causes Collagen VI-related myopathy.
• Our hypothesis is that K2483E mutation affects protein assembly.
• MRI in COL6 disease cases is more informative than muscle biopsy.
Recently the scientific community has started to view Bethlem myopathy 1 and Ullrich congenital muscular dystrophy as two extremes of a collagen VI-related myopathy spectrum rather than two separate entities, as both are caused by mutations in one of the collagen VI genes. Here we report three individuals in two families who are homozygous for a COL6A3 mutation (c.7447A> G; p.Lys2483Glu), and compare their clinical features with seven previously published cases. Individuals carrying homozygous or compound heterozygous c.7447A> G, (p.Lys2483Glu) mutation exhibit mild phenotype without loss of ambulation, similar to the cases described previously as Collagen VI-related limb-girdle syndrome. The phenotype could arise due to an aberrant assembly of Von Willebrand factor A domains. Based on these data, we propose that c.7447A> G, (p.Lys2483Glu) is a common pathogenic mutation.

Read the full text here


Collagen 6 posters:

Two posters which were presented at this years World Muscle Society meeting by the National Institutes of Health

"Increasing allele selectivity of small interfering RNAs to target a dominant-negative glycine substitution causing a collagen VI-related dystrophy"

“Effective pseudo-exon skipping of a COL6A1 intronic mutation in cultured muscle interstitial fibroblasts from a novel humanized mouse model”

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Join theShare4Rare Neuromuscular Disease Study!


"Impact of neuromuscualr diseases on education and working opportunities of patients and carers"
During the last 10 years, there has been a growing interest in developing research related to neuromuscular diseases. There are therapies that have been tested in clinical trials and some of them are already available for patients in the United States and the European Union.
However, very little is known about the impact of neuromuscular diseases on the education and employment opportunities of both patients and their caregivers, and this can have a significant impact on their quality of life and their access to potential treatments in the future. 
The diseases included in this study are the following:
Muscular dystrophies (MD)
Myotonic dystrophy (MD1 and MD2)
Fascioscapulohumeral MD (FSHD)
Limb girdle MD (LGMD)
Congenital muscular distrophies
Amyotrophic Lateral Sclerosis (ALS)
Peripheral neuropathies
Charcot Marie Tooth (CMT)
Chronic inflammatory demyelinating polyneuropathy (CIDP)
Congenital myasthenias
Myasthenia gravis
Congenital myopathies
Information provided directly by patients and their caregivers will allow us to understand the impact of rare neuromuscular diseases on the employment opportunities and the education of these patients and their families.
Questionnaires developed and designed by the John Walton Muscular Dystrophy Research Centre at Newcastle University (UK) and the World Duchenne Organization.
Analysis of the data to understand the impact of neuromuscular diseases on the education and employment opportunities of patients and their families.
Join here
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Global Registry for COL6-related dystrophies · International Centre for Life · Newcastle Upon Tyne, Net NE3 1BZ · United Kingdom

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