Around half of MG (myasthenia gravis) patients present with purely ocular symptoms. This manifests into ptosis and/or diplopia. Studies have previously reported that the majority of patients that present with purely ocular symptoms go on to develop secondary MG (SGMG). Given the prevalence of extraocular muscle involvement in a large number of MG patients (~30-80%, depending on cohort), it is important that tools for diagnosis and prediction of conversion of OMG to SGMG are developed and available for clinicians.

Projects which have been funded by myaware and largely carried out by Dr Sui Wong aimed to do just that. Dr Wong has completed a systematic review on the risk of people with OMG converting to GMG through a study involving around 200 patients. Samples taken from this cohort led to a collaborative effort that highlighted a potential biomarker useful in the prediction of generalisation in OMG.

A biomarker is a useful tool in the diagnosis of disease. It is a molecule that can be found in tissues, body fluids, or blood that can be indicative of the presence or progression of a condition. In the case of the work by Dr Wong and others, a biomarker called miR-30e-5p was identified. This biomarker is what is called a micro RNA (miRNA), which is a type of genetic material. RNA is produced through the molecular tailoring of DNA in a process called transcription. miRNA is a small RNA molecule, and it plays an important role in regulating the expression of genes. This makes them highly useful as biomarkers, as it is clear to see when there are issues with genes depending on the amount of the miRNA present in cells. They have been previously used as indicators in the diagnosis of rheumatoid arthritis, psoriasis, and systematic sclerosis.

This particular biomarker, miR-30e-5p, showed that in the patients tested, 100% of those with elevated levels of this miRNA had generalisation of OMG. With this data, it has been proposed that this biomarker can be used a predictor of the likelihood of conversion of OMG to GMG after onset.

The data from Dr Wong’s cohort, besides the above collaboration, also helped produce a robust rating scale for OMG. A rating scale helps clinicians assess the severity of diseases based on symptoms and can therefore be used to dictate potential treatments. The ocular myasthenia gravis rating scale (OMGRate) has been developed through this project and combines physician and patient-rated components. Patient input helps overcome the extreme variability of symptoms and indicators of OMG. When applied in a study, the OMGRate was reported as easy to use and had positive patient and examiner feedback.

To read more about Dr Wong’s continued work in myasthenia research, click here to visit her Research Gate page.

Past Research Projects