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Major technological breakthrough in rare disease diagnoses



Ipsen Pharmaceuticals and Mendelian are leading the breakthrough

A pioneering breakthrough in technology could drastically reduce the time it takes to make a rare disease diagnosis.

Ipsen Pharmaceuticals and digital health specialists, Mendelian, have launched a new partnership using Mendelian’s MendelScan software.

The software, which uses state-of-the-art technology, data capture and the latest medical knowledge, is designed to integrate into NHS systems and scan patients’ electronic health records. It will be used by general practitioners to alert them to risk factors, meaning faster referral and a quicker diagnosis. 

Dr Myles Furnace, Global Digital Health Partnerships Lead at Ipsen said: “Ipsen is delighted to be partnering with Mendelian to bring this pioneering technology forward for people affected by life altering, rare conditions. 

“Every day that goes by without a diagnosis can cause immense distress for sufferers and the risk of potentially life-threatening complications. 

“COVID-19 has made diagnosis even more challenging and new, innovative tools such as this are vital if we are going to make headway into addressing this issue. 

“We’re thrilled to be leading the way alongside Mendelian with a tool that is fully integrated into the NHS clinical workflow and hope to demonstrate the value collaboration and digital health can have on improving the disease journey for people living with a rare disease.”

The Ipsen / Mendelian partnership will initially focus on two rare diseases: neuroendocrine cancers and rare bone disorders. For both conditions, time to diagnosis can be very variable, the average time to diagnosis for a rare disease is 5 years in the UK, with some waiting over 30 years, and symptoms are often mistaken for other, less serious issues. 

In neuroendocrine cancers, for example, symptoms can include fatigue or feeling bloated and over half of patients are thought to be advised by their GP to simply come back if symptoms persist. 

According to a recent survey of over 600 neuroendocrine cancer patients, almost 30 per cent saw their GP more than six times before being referred to secondary care and diagnosis often took years from initial onset of symptoms.[ii] 

COVID-19 has further exacerbated referral challenges, with a DATA-CAN report stating a 70 per cent drop of urgent referrals during the pandemic as compared to prior to the pandemic.[iii]

Mendelian Co-Founder and CEO, Rudy Benfredj said: “Prompt diagnosis of rare diseases remains exceptionally challenging, with GPs expected to spot symptoms of conditions that many may never see in their entire careers. 

“Digital technology has the potential to translate some of the analog knowledge that has for years been stored only in books and the brains of the very best specialist consultants, by digitalizing this knowledge healthcare becomes more equitable and access to expertise is democratised – MendelScan, our core solution can do just that. 

“With over 6000 rare diseases out there, we want to work with of industry partners who can provide additional expertise to compliment and grow the potential of MendelScan. Ipsen has exceptional heritage in this area and we are delighted to be taking this important step forward with them.” 

In January 2021, the UK Government published its Rare Disease Framework, highlighting the need to improve speed of diagnosis in rare diseases as a priority. Ipsen and Mendelian said their partnership aims to specifically align with this national goal, and to support healthcare professionals to deliver the right care as quickly as possible. 

MendelScan software is a Class 1 Medical Device with potential to be applied to many rare diseases. It is built to the highest standards of SaMD regulation and Data Privacy, ensuring that at every step, patient data is secure. 

The UK team is part of Ipsen’s global biopharmaceutical business and puts prioritizes patients’ waiting times. The UK team consists of on Research & Development in Oxfordshire and in-house manufacturing in North Wales.The company employs over 700 people across the sites, including at their headquarters in Slough. 

Ipsen focuses on oncology, rare diseases and neurosciences to create innovative therapies in areas of high unmet medical need. They say they aim to provide best-in-class treatments for a range of conditions, including renal cell carcinoma and neuroendocrine tumours, where there are limited treatment options available for patients. 

Mendelian says it aims to improve clinical care through earlier rare disease diagnosis. According to them patients’ journey to diagnosis is often long and stressful. In the UK, on average, patients endure three misdiagnoses via five different doctors and a wait of over five years before receiving a diagnosis. Additionally, in the past decade alone, undiagnosed rare diseases have cost the NHS in excess of £3.4 billion.

Founded in 2015 by a group of technologists and clinical doctors, Mendelian’s software, MendelScan, uses state-of-the-art technology, data capture and the latest medical knowledge to enable and improve rare disease diagnosis. 

Through more efficient care, the company says it helps to significantly relieve pressure on an overstretched NHS and is scanning almost 1m patients to detect rare diseases.

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  1. Pingback: Millions of people with rare diseases to benefit from faster diagnosis - Health Tech World

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