AstraZeneca, a global, science-led biopharmaceutical company, has made available its treatment, Soliris®, in Malaysia as part of its ongoing commitment to support patients living with rare disease worldwide.
Soliris® marks a significant treatment advancement, having already contributed to improved clinical outcomes in treating rare neurological autoimmune diseases such as generalised myasthenia gravis (gMG) and neuromyelitis optica spectrum disorder (NMOSD) and severe blood disorders such as atypical haemolytic uraemic syndrome (aHUS) and paroxysmal nocturnal haemoglobinuria (PNH) .
Svetlana Yanchuk, AstraZeneca Malaysia Country President, said, “With Soliris® we can advance our efforts in Malaysia to transform the lives of persons living with rare disease as well as their families in the country and help them fully live their meaningful lives.
“Research and development into rare diseases requires continuous innovation to deliver meaningful medicines for patients. AstraZeneca, through our subsidiary Alexion, was acquired in 2021 to harness insights into the immune systems’ complement pathway to develop novel, life-changing treatments for patients with complement mediated diseases.
Moving forward, we remain committed to advancing our legacy and leadership in this area to advocate for the rare disease community. In fact, efforts are in place to introduce next generation treatments to enhance the care of those living with rare disease,” she added.
Rare diseases are often difficult to recognise and diagnose. Because these conditions are uncommon and their symptoms can look similar to more familiar illnesses, many patients spend years searching for answers. It is not unusual for individuals to see multiple doctors, undergo repeated tests, or receive incorrect diagnoses before their condition is properly identified.
While each rare disease affects only a small number of people, the overall impact is significant. Many rare diseases are serious, long-lasting, and may worsen over time. For patients and their families, this can mean ongoing medical challenges, emotional stress, and financial strain.
Delays in diagnosis can add to the burden, highlighting the need for greater awareness, earlier detection, and timely access to appropriate care and treatment.
According to a report in The Lancet Global Health, by definition, rare diseases affect a small number of individuals. Yet, with more than 7000 types of rare disease in existence, the burden worldwide is not insignificant.
To date, approximately 300 million people live with rare diseases. Such individuals are often a neglected and marginalised group, especially those in low-income and middle-income countries. Around 80% of rare diseases have a genetic cause, almost 70% of which present in childhood; about 95% lack approved treatments. The average time for an accurate diagnosis is 4.8 years and about 30% of children with a rare disease die before age 5 years.
In Malaysia, rare diseases are life-threatening and /or chronically debilitating rare conditions.5 As of 2020, Malaysia recorded a total of 491 rare diseases however, they are often underdiagnosed. Majority of patients experience delayed and inaccurate diagnosis upon initial presentation, and their management is frequently complicated by a lack of access to treatment and information about the diseases.
According to Dr Chew Lee Ping, Consultant Haematologist, Hospital Umum Sarawak, “aHUS is a rare disease due to immune dysregulation of the blood which can cause damage to the kidneys while PNH is a rare, chronic, progressive and potentially life-threatening blood disorder that causes red blood cells to break down prematurely, resulting in blood clots.”
Dr Fu Liong, Hiew, Consultant Neurologist, Sunway Medical Centre said “gMG is a chronic autoimmune neuromuscular disease which begins with muscle weakness around the eyeballs and eyelids and leads to weakness in the head, neck, limb and respiratory muscles while NMOSD is a rare, debilitating disorder that affects the central nervous system, particularly the optic nerves and spinal cord. This can eventually cause vision loss, paralysis, and other neurological complications.”
As a first-in-class drug, Soliris®, which is a C5 complement inhibitor, binds and blocks the C5 protein within the terminal complement pathway, which isa key part of the body’s defense against infection.
Thus, the mode of action to block the C5 protein is important to help control the excessive immune response and to alleviate symptoms manifested in complement-mediated diseases. Various clinical trials on Soliris® have demonstrated the safety and efficacy of this treatment for aHUS, PNH, gMG and NMOSD.
Soliris® has been shown in major international studies to strongly reduce the destruction of red blood cells in paroxysmal nocturnal haemoglobinuria (PNH), a rare blood disorder where the body’s immune system mistakenly attacks its own red blood cells. A 52-week study demonstrated a 87% drop in haemolysis in the Soliris® treated group. This rapid and sustained control of haemolysis helped many patients maintain stable haemoglobin levels and greatly reduced their need for blood transfusions, including a trial where almost half of treated patients achieved haemoglobin stability without any transfusions, compared to none on placebo. Patients also felt noticeably better, reporting less fatigue and improved overall quality of life across treatment periods.
Atypical haemolytic uremic syndrome (aHUS) is a rare, serious condition where the body’s immune system becomes overactive and damages blood vessels, especially in the kidneys. This can lead to low red blood cell levels, low platelet count and kidney failure. Based on the trial involving aHUS patients treated with Soliris®, up to 90% of patients recorded haematologic normalisation.
Generalised myasthenia gravis (gMG) is a chronic autoimmune condition where the body’s immune system interferes with the signals between nerve and muscles. This causes muscle weakness and fatigue, making everyday activities like walking, lifting objects, speaking or even breathing more difficult. In a trial which involved treatment-resistant gMG patients, in reviewing the total score of the MG-Specific Activities of Daily Living scale (MG-ADL), Soliris®–treated patients achieved a lower total score of -4.2 as compared with -2.3 in patients receiving placebo, in which a lower score indicates a better clinical outcomes.
The use of Soliris® has shown significant reduction in the risk of severe relapses in people with Neuromyelitis Optica Spectrum Disorder (NMOSD), a rare autoimmune disease that affects the brain and spinal cord. A clinical trial and its follow-up phase found that patients treated with Soliris® had far fewer attacks over time with 97.9% of Soliris®-treated patients remaining relapse-free as early as 48 weeks, compared to only 63.2% for those who received a placebo. At 144 weeks, 96.4% of Soliris®-treated patients remained relapse-free, contrasting with just 45.4% of patients who received a placebo. This helps to protect them from sudden disability, vision loss or paralysis, all of which are manifestations of the disease itself and are irreversible.
With that said, there is still lots to do in the landscape of rare disease here in Malaysia. It is crucial to recognise that in addition to the physical impact, some persons living with a rare disease, their families and caregivers may experience discrimination and psychosocial consequences, such as isolation, stigmatisation and limited opportunities for social inclusion, which are often intensified by a lack of public awareness and knowledge and the absence, limited scope or poor implementation of policies and social support.
Moving forward, the need for greater awareness and educational programs on rare diseases to patients, health professionals and general public is crucial to allow for equitable access to treatment for rare disease patients, in line with United Nations Sustainable Development Goals, one of which is ensuring healthy lives and promoting well-being for all at all ages, leaving no one behind.
