SGH to lead $5.8m research project to combat deadly autoimmune disease
To do so, researchers aim to develop a predictive algorithm that can better detect those at risk of worse outcomes, and validate an imaging technique that can sift out earlier those whose condition is set to deteriorate.
Systemic sclerosis, or scleroderma, afflicts about eight out of 100,000 people in Asian populations.
In Singapore, it is estimated that around 500 to 600 patients are living with the condition at any one point in time. Some 10 to 15 patients are newly diagnosed every year.
The exact cause of the disease is not fully understood, but it is believed to be a combination of genetic and environmental factors. For example, a viral infection can trigger individuals with a genetic disposition to develop the rare disease.
The condition causes the body's immune system to mistakenly target and attack its healthy tissues and cells. This can result in thickening and hardening of the skin, lungs and other internal organs.
The research project, funded by an A*Star grant, was announced at SGH in a media briefing on May 22.
Known as the Singapore Systemic Sclerosis Precision Medicine Project, or Sysmic, it brings together clinician scientists, laboratory and big-data scientists and imaging specialists to analyse data derived from patients' genes and immune system.
The goal is to gain better insights into how the disease progresses in different patients.
About 300 patients will be recruited for the study.
Participating institutes include the SingHealth Duke-NUS Translational Immunology Institute, National Neuroscience Institute, Lee Kong Chian School of Medicine at Nanyang Technological University, Tan Tock Seng Hospital, National University Hospital and Sengkang General Hospital.
Sysmic lead Andrea Low said: 'Scleroderma is particularly challenging as it affects each patient differently in both severity and progression. With Asian patients showing poorer survival rates and known genetic differences in scleroderma risk, the goal is to develop more personalised treatments and better ways to predict how the disease will progress.'
Research has shown that just 52 per cent of Asians are still alive nine years after their diagnosis, compared with 76 per cent of Caucasians.
In Singapore, patients with mild or localised symptoms often have a normal life expectancy. However, among those whose lungs, heart and kidneys are affected, half die of the disease within two to three years of its onset.
Associate Professor Low, who is also a senior consultant at SGH's department of rheumatology and immunology, said the disease is very complex because it can cause three interconnected processes: inflammation, vascular damage and excessive fibrosis.
Often, it is not clear which process is taking place in a patient. This makes it hard to administer the right treatment to slow down the progression of the disease.
To better target the right underlying process, researchers on the project will study in detail how scleroderma patients' immune systems behave.
With the data, they hope to develop a preliminary predictive algorithm that can give better insights into a patient's prognosis.
'It could tell us which one of the three processes is happening, so we can use the appropriate drugs to treat these patients,' said Prof Low.
Lung fibrosis, where scarring in the organ makes it hard for patients to breathe, is one of the major causes of death in scleroderma.
Asians who develop the disease tend to have worse lung fibrosis, said Prof Low.
The research project will aim to validate a new imaging technique that can better detect if lung cells are actively producing fibrous tissue.
Explaining the technique, Prof Low said radiotracers are injected into a patient and will light up on a scan when cells are actively producing tissue.
'The problem now is that we cannot quite use (this technique) because we don't know what's the threshold (before we take action). Do we say 'even if I see one tiny spot, we should treat', or maybe we treat when it's 10 per cent lit up,' she said, adding that the research will help to determine the threshold.
She also hopes the research project will be able to help current patients like Ms Haslina Wanoor, 45.
Ms Haslina was diagnosed with the disease in 2008, when she was 28. Three years later, her condition deteriorated when her lung fibrosis worsened, leaving her breathless. In 2013, she underwent a stem cell transplant that bought her about five years of stability.
Today, she is on palliative care and needs supplemental oxygen supply from an oxygen concentrator 24 hours a day.
Prof Low said that while Ms Haslina's lung fibrosis is in the advanced stages, doctors are trying to stabilise the disease with medication.
With a more precise lung imaging method, doctors will be better able to more confidently detect what is happening and escalate treatment if needed. For patients, this can help reduce suffering and prolong lifespan when timely treatment is given.
For Ms Haslina, her priority now is her 20-year-old daughter.
'I hope I'll still be able to fulfil my duties as a mother, and see her go through more milestones of her life, like graduation or even marriage.'
Source: The Straits Times © SPH Media Limited. Permission required for reproduction
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