RARE Daily

Ipsen Enters Agreement with Mendelian to Use Company’s Software to Diagnose Rare Diseases

February 10, 2021

Rare Daily Staff

Ipsen Pharmaceuticals said it entered into an agreement with rare disease digital health company Mendelian to use its MendelScan software to help it identify people with rare diseases.

MendelScan software is designed to integrate into the U.K.’s National Health Service systems and scan patients’ electronic health records. It will be used by general practitioners to alert them to risk factors, enabling faster referral and diagnosis.

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. The companies said the aim of their partnership is to align with this national goal, to support healthcare professionals to deliver the vision, and enable the National Health Services and healthcare providers to provide the right care as quickly as possible.

“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,” said Myles Furnace, Global Digital Health Partnerships Lead at Ipsen. “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 partnership will initially focus on 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 five years in the United Kingdom, with some waiting more than 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 more than half of patients are thought to be advised by their GP to simply come back if symptoms persist. According to a recent survey of more than 600 neuroendocrine cancer patients, almost 30 percent saw their GP more than six times before being referred to secondary care, and diagnosis often took years from initial onset of symptoms. COVID-19 has further exacerbated referral challenges, with a DATA-CAN report noting a 70 percent drop of urgent referrals during the pandemic as compared to prior to the pandemic.

“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,” said Mendelian Co-Founder and CEO Rudy Benfredj. “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 democratized.”

Photo: Mendelian Co-Founder and CEO Rudy Benfredj

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