News

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Support the Lochmüller Lab in the annual Cycle for CHEO ride!

On May 5th, Lochmüller Lab team members and friends are participating in the annual CN Cycle for CHEO bike ride to raise funds to ensure that CHEO remains a leader in creating better treatment options and finding new cures so that more kids survive cancer. We want to raise awareness...
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New publication: quality of life of patients with SMA: a systematic review

Quality of life (QoL) is an important measure to help understand the clinical implications of a disease and inform optimum medical management, as well as to facilitate economic evaluations of new health technologies. As new therapies for spinal muscular atrophy (SMA) enter the market, it is increasingly important to establish...
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Event: NDF’s 6th Annual Symposium on GNE Myopathy

The Neuromuscular Disease Foundation’s 6th annual symposium and patient day on GNE Myopathy will take place in Philadelphia, USA on Saturday May 4th 2019 from 9:00 am. The venue is the Philadelphia Airport Marriott. This event provides patients and families with a full day of updates on GNE research and...
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New Publication: Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

While we know some drug treatments can help patients with disruption of the neuromuscular junction (NMJ) we do not always know why they work. Determining the mechanism or indeed mechanisms of action of a successful treatment may help us develop even more effective drugs though increasing specificity or reducing side...
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New publication: CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

A group of investigators from the Sant Joan de Deu hospital in Barcelona (Carrera, Natera and Nascimento) led a comprehensive study looking at muscle outcomes for patients with defects in the gamma-subunit of the acetylcholine receptor. In humans, the gamma subunit is only expressed before birth and for a short time...
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New Publication: MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

Determining the mechanism behind a disease causing gene is often very difficult, and yet it remains a key step in the translational pathway towards an effective therapy. That is why we were pleased to collaborate with the Burden Lab on this recent paper identifying the role of MACF1 at the...
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Conference Announcement

The speakers and dates for the 5th Ottawa International Conference on Neuromuscular Disease & Biology have been announced. The Conference will feature top international basic and clinical NMD researchers highlighting advances in NMD research and clinical care, including novel diagnostic techniques, disease pathogenesis, basic muscle and stem cell biology, and promising...
Participants at the 237th ENMC workshop on GNE myopathy

New publication: 237th ENMC international workshop: GNE myopathy – current and future research

In the 237th workshop convened by the European Neuromuscular Center (ENMC), clinical experts, researchers and patient representatives came together from around the world to discuss the latest findings and the way forward in research and care in GNE myopathy. The workshop was held in September 2018 and led by Drs Pogoryelova,...
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New publication: Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

We were really pleased to collaborate with the Dominov and Brown labs at the University of Massachusetts Medical School. This research discovered a novel pathogenic point mutation in a dysferlin intron, thus determining the genetic cause in a group of patients with limb girdle muscular dystrophy. In addition, through performing targeted...
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New publication: disease burden of myotonic dystrophy type 1

Nikoletta Nikolenko and Erik Landfeldt have published a new study on the impact of myotonic dystrophy type 1 (DM1) in the Journal of Neurology. They use a questionnaire-based method, the Individualized Neuromuscular Quality of Life Questionnaire (INQoL), to assess the burden of this condition on affected adults. The study provides further...
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New publication: Congenital myasthenic syndrome caused by novel COL13A1 mutations

We recently contributed to this important research detailing the discovery of novel COL13A1 mutations (p.Tyr216*, p.Glu543fs and p.Thr629fs) in patients from Spain, Portugal and Germany with congenital myasthenic syndrome (CMS). This work, led by Marina Dusl and Jan Senderek in Munich, Germany, describes six patients from three unrelated families with symptoms similar...
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New publication: health-related quality of life in myotonic dystrophy type 1 – a systematic review

Our new systematic review by Landfeldt et al on health-related quality of life in myotonic dystrophy type 1 (DM1) is now available online. DM1 is the most common muscular dystrophy in adults. It is a multisystem disorder that may have a wide range of complications that affect quality of life....
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New publication on shared decision-making puts the patient perspective front and centre

How do we ensure patients are involved in neuromuscular research right from its earliest stages? Shared decision-making (SDM), in which doctors and patients jointly decide on treatment or care, has emerged as a gold standard model of healthcare. Within neuromuscular research, obtaining the patient perspective on matters such as research...
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New publication: GNE genotype explains 20% of phenotypic variability in GNE myopathy

A lack of genotype-phenotype correlations in many neuromuscular disorders can make it difficult for doctors to manage diseases and give advice on prognosis and disease trajectory to patients. In addition, it may hinder clinical research. Our most recent paper by Pogoryelova et al, a systematic review and meta-analysis, examines this...
Image of neuromuscular junction showing genes and treatments for CMS

New publication: Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Our new publication by Thompson et al on the treatments available for the congenital myasthenic syndromes (CMS) and the development of a "treatabolome" to improve the accessibility of information on treatable rare diseases is now available online. In this publication we look into ways we can improve access to the important...
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New Publication: A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

Our most recent paper reporting on a phase 3 international multi-center study (13 sites across 7 countries) to evaluate extended-release sialic acid as a therapy option for GNE myopathy is now available to read online. Dr Lochmüller led an international group of investigators in a phase 3 clinical trial sponsored by...