Time to act: closing the innovation gap in myasthenia gravis

Imagine having to consider your health and its limitations every single day. Often, we take our health for granted, but unfortunately for many across Europe, the Middle East and Africa (EMEA), the reality is very different.

Autoantibody diseases like myasthenia gravis (MG) are caused by pathogenic antibodies made by one’s own body that attack critical organs and tissues. ^{1,2 ,3 ,4 ,5 ,6 ,7 ,8} Nearly 240 million people worldwide suffer from severe autoantibody diseases, with European studies estimating that between 7.6 percent and 10.2 percent of the population are affected. ^{9, 10,11}

On bad days, I can’t eat solid food — and if it’s too liquid, I choke

Person living with MG, Germany

MG has a broad impact

MG is a chronic and incurable autoantibody disease thought to affect between 56,000 and 123,000 people in Europe. ^{12 ,13} However, given the daily challenges that MG poses, it also has broader repercussions on family, caregivers and health systems.^12,14

The disease is characterized by severe muscle weakness, including muscles impairing speech, swallowing and breathing. ^{15 ,16} Given the vital nature of these functions, the consequences can be significant, with serious flare-ups potentially leading to hospitalization, the need for assisted ventilation and, if left untreated, death.^{17 ,18 ,19}

Research shows symptoms can fluctuate or linger following treatment, posing a serious obstacle to daily activities, hobbies and livelihoods.²⁰ Patients are often faced with a choice between managing their condition and being able to live their lives to the fullest.

I had to leave my job as my symptoms were so bad. I was a PA Secretary who couldn’t talk properly. This was frustrating and upsetting at the time, but I felt I had no other choice.

Person living with MG, UK

Without question, the physical challenges associated with gMG can have a significant emotional impact. For a lot of people living with the condition, the ongoing uncertainty of symptom relapse weighs most heavily, with many patients experiencing depression and anxiety.^12,15,16,19

Receiving an MG diagnosis is anything but straightforward

For people with MG, the journey to diagnosis can be long and complicated.²¹ Symptoms are typically nonspecific and can be attributed to other conditions, resulting in many patients initially being misdiagnosed.^{22 ,23 , 24} And as a rare disease, clinical referrals can take time as neurologists specializing in MG are not always readily accessible beyond urban centers.²⁵ If it takes over a year to receive a diagnosis, by then the damage may already be done: around 80 percent of cases that progress to gMG do so in the first year, rising to 90 percent within three years.^22,26

Physicians report that drawn-out diagnoses compound the physical, mental and health-related quality of life burden experienced by patients with gMG.²² What’s more, data shows that people diagnosed late with gMG consult a greater number of healthcare professionals more frequently than those diagnosed within one year.²² From a health systems perspective, that equals higher resource utilization and a greater, avoidable burden on patients and healthcare providers.²² Given this burden, the need for timely diagnoses and access to specialist care is evident.

The complexities of presenting symptoms means that MG can sometimes be a challenge to diagnose and manage effectively, with patients enduring an exhausting journey to get their diagnosis. As clinicians, our priority is ensuring our patients are supported and can access the most appropriate treatment that will alleviate their symptoms — giving them back control over their lives.

Professor Francesco Saccà, University of Naples*

Navigating the ups and downs of treatment

Even after diagnosis, people struggling with gMG face unmet needs, with 30 percent of patients experiencing remaining symptoms despite treatment.²⁰ Historically, approaches have been focused on managing symptoms, including through treatment with acetylcholinesterase inhibitors, corticosteroids or immunosuppressants.^27,28 However, these don’t suit everyone, as some patients deal with significant side effects or are resistant to treatment.^27,28,29 This can lead people with gMG to discontinue their care, resulting in further disruption to daily life.³⁰

There exists a need for more innovative options to address these challenges for patients, including more effective immune-selective treatments that offer fewer side effects.³¹ Science is leading the way and while research has started to deliver new approaches to treat this debilitating condition, further development remains essential to address unmet medical need.³¹ Effective improvements could mean the difference between someone facing serious difficulty with swallowing or eating and being able to live more independently.

What can be done to overcome barriers?

More work is needed to elevate the daily challenges MG poses, as well as ensure healthcare systems are ready for innovation and are primed to help address patient needs. EuMGA, a prominent non-profit organization that serves as an association of European MG national patient organizations has led impressive communication and collaboration efforts. Its recent ‘A voice for MG’ campaign brought to life the realities and difficulties that people with MG face — demonstrating an important step forward for the community.

Having a conducive policy environment is an integral part of these efforts. The European Commission’s anticipated Strategy for European Life Sciences holds great promise, showcasing the region’s ambition to strengthen life sciences research and accelerate the pace at which innovation reaches patients.³² EURORDIS-Rare Disease Europe emphasizes that this long-awaited strategy should also recognize the value of rare disease research in driving broader breakthroughs. Furthermore, the forthcoming Biotech Act aims to create a more favorable regulatory environment, encouraging innovation and facilitating market access for biotech companies.³³ By optimizing the policy environment for life science competitiveness, we can significantly advance efforts for underrepresented diseases such as MG.

Finally, we need to ensure a patient-centric approach continues so that decisions are taken in consultation and alignment with those people directly affected by their outcomes. Embedding patient voices throughout our work and the entire policy and access ecosystem helps to enhance insights-driven healthcare decision-making, guide clinical trials, improve care, inform policy decisions and shape health technology assessments for rare diseases. At Johnson & Johnson, our company Credo is rooted in this patient-first philosophy. We are committed to this approach and working with the community to prioritize better outcomes for those battling gMG and other autoantibody diseases.

*Professor Francesco Saccà has provided consulting, advisory and speaking services to Johnson & Johnson. He has not been paid for this media work.