Uncovering the true burden of generalized Myasthenia Gravis (gMG)

A debilitating, chronic and progressive autoimmune neuromuscular disease, generalized myasthenia gravis (gMG) primarily affects women under 40 and men over 60. Symptoms start with weakness in the eye and eyelid muscles and often progress to weakness in the head, neck, trunk, limbs and respiratory muscles.4,[i] Although gMG treatments have advanced significantly since the first medicine was developed over 80 years ago[ii], the burden of gMG is still considerable today, and it is vital that we do more to support patients living with this condition.

To increase our understanding of gMG and identify areas of unmet need, Alexion partnered with Schweizerische Muskelgesellschaft (Swiss Muscle Society) to conduct a survey, uncovering critical insights into the lived experiences of those with gMG. The survey was completed by a total of 55 respondents, including nine Swiss gMG healthcare providers (HCPs) and 46 patients.[iii] Findings highlighted drastic gaps between HCPs’ perception of the burden of disease compared to patients’ daily experiences and raise the need for more patient-centric approaches in gMG care.7

Understanding gMG

For people living with gMG, the way the condition presents and the physical and mental impact it has is inherently unique. This varied prevalence of symptoms and experiences, combined with the fact that the disease is rare and there is significantly less research into it compared with more common diseases, contributes significantly to the lack of recognition and understanding of the condition. Ultimately, this lack of awareness can result in delays to diagnosis, risking progression of symptoms and severity of disease. While the range of symptoms is broad and differs from patient to patient, 83% of people surveyed stated they experienced more than one symptom of their condition.7 Already, this demonstrates the complexity of diagnosing gMG, especially as many of the signs and symptoms overlap with those of other conditions. The most common symptom identified in the survey was general fatigue, with 73% of patients experiencing this symptom. The next most common, reported by 68% of patients, was weakness in various parts of the body, including the arms, hands, fingers, legs and neck. Following, 44% of patients reported experiencing blurred or double vision, the symptom respondents noted as the most debilitating.7

?These symptoms have a notable impact on patients’ abilities to perform day-to-day tasks and activities and only just scratch the surface of the multitude of the other ways that gMG affects people’s quality of life. In some severe cases of gMG, patients suffer from slurred speech, choking, impaired swallowing, disabling fatigue, immobility requiring assistance, shortness of breath and episodes of respiratory failure. Also, complications, exacerbations and myasthenic crises can require hospital and intensive care unit admissions with prolonged stays and can be life-threatening.[iv]

The importance of timely diagnosis

Timely diagnosis of any condition is important to ensure that patients are put on appropriate and effective care and so the disease doesn’t progress any further. As is the case for gMG, timely diagnosis can be life-changing for patients, but due to the rarity of the condition and the majority of symptoms being invisible, many patients experience delays.

?Of the patients surveyed, 32% were diagnosed within a timeframe of four months to three years7, demonstrating the drastic uncertainty for people waiting for an answer. As well as the physical burden of symptom progression in this time, there is also a risk of increased mental burden and psychological stress caused by the wait.

?Due to gMG’s rarity, many HCPs may have never come across a case of it before. It’s imperative to raise awareness of the condition, not only amongst industry and academia, but also the general public so people can recognize the signs and symptoms and know when to speak to their doctor.

?HCPs’ roles in gMG patient care

Although HCPs are making great strides in the treatment of gMG, the survey revealed a gap in their understanding of the true impact of the condition on patients’ lives. Approximately 43% of respondents reported a misalignment between their HCP's perception of disease burden and the true impact it had on their lives.7

?Despite disparities in understanding of disease significance, 80% of patients considered HCPs to be their main source of information about their condition.7 It’s clear that HCPs play a critical role in educating and supporting patients with gMG, but further results revealed that 56% of patients only visit their HCP once or twice a year, or maybe even less.7 Whilst clear and authentic doctor-to-patient communication is important, it’s apparent that patients still feel a sense of isolation in managing their condition. Looking to the future

?Traditionally, the provision of healthcare has followed structured, one-size-fits-all methods, but as we learn more about rare diseases and solutions for patients, patient centricity continues to bubble to the top of importance. Without truly understanding patients’ needs, how can we deliver effective health solutions for them?

?To ensure that challenges and experiences of patients are accurately acknowledged and addressed, it is vital that a patient-centric approach is taken to understand the true nature of the disease. We need to work together to ensure that patient insights form the backbone of all healthcare practices – from clinical trial design all the way through to the prescription of medicines and delivery of care. The survey conducted serves as a starting point, demonstrating the value of authentic patient insights to identify gaps for improvement in the patient journey – but we can’t stop there.

?Together, it is critical that we continue to raise awareness of the mental and physical burden of rare diseases like gMG, and work to make a meaningful difference in the delivery of well-rounded care, so that no patient is left behind.

[i] National Institute of Neurological Disorders and Stroke. Myasthenia gravis fact sheet. https://www.ninds.nih.gov/disorders/myasthenia_gravis/detail_myasthenia_gravis.html. Accessed September 25, 2019.

[ii] Pascuzzi RM. The history of myasthenia gravis. Neurol Clin. 1994 May;12(2):231-42.

[iii] Swiss Muscle Society (Schweizerische Muskelgesellschaft). Report: Understanding the daily burden of gMG

[iv] Howard JF, Barohn RJ, Cutter GR, et al. A randomized, double-blind, placebo-controlled phase II study of eculizumab in patients with refractory generalized myasthenia gravis. Muscle Nerve. 2013;48(1):76-84.