Specialist service for rare blood disorder

Specialist service for rare blood disorder opens

A new regional service for the treatment of Thrombotic Thrombocytopenic Purpura (TTP), a rare, life-threatening blood disorder, has opened at the Trust for patients across Yorkshire and Humber.

The Haemophilia and Thrombosis Centre is one of nine specialist regional centres and 11 participating hospitals commissioned by NHS England to provide specialist treatment for TTP. TTP is an exceedingly rare and complex condition which can present as an acute life-threatening disorder requiring prompt diagnosis, early referral and effective immediate treatment led by a specialist in the condition. Kimberly Peters, 31 from Doncaster, was diagnosed with TTP in 2019 and was referred to the Haemophilia and Thrombosis Centre. She had symptoms including shortness of breath, cold sweats, fatigue, blood in her urine and bruising on her legs. She said: “I was mortified when I found out that I had TTP. My mum had it when I was younger, so although I did have some awareness of the disorder, I was unsure what it would mean for myself.” She underwent Plasma Exchange Therapy, which is a life-saving procedure involving removing and replacing missing or damaged enzymes in the patient’s blood. “Following my Plasma Exchange, I continued to have follow-up treatment at the centre as an outpatient and thankfully I haven’t had a relapse since. The team have been fantastic and so reassuring. I keep in touch with them through regular check-ups but I’m now doing well and have since had a baby.” For more information about TTP or the referral pathway please contact the Haemophilia & Thrombosis Centre at sth. haemophiliacentre@nhs.net.

Research could mean improved quality of life for diabetes patients

Researchers at the Trust are hopeful that diabetes patients suffering with neuropathic pain could benefit as a result of findings from the largest and longest ever neuropathic pain trial in the world.

Diabetic peripheral neuropathic pain (DPNP) is caused by a type of nerve damage which may result in severe pain in the feet, legs and hands. Commonly described as a burning or electric shock-like sensation, it can be intractable and debilitating and affects up to a quarter of people with diabetes. The OPTION-DM trial, which was funded by the National Institute for Health Research (NIHR), will inform future treatment guidelines, not only for neuropathic pain in diabetes patients, but chronic neuropathic pain treatment in general. Current guidance recommends a choice of four drugs as initial treatment, however until now there has been little comparative evidence on which is best, or whether they should be combined. Trial findings demonstrated that all treatments provided similar pain reduction for patients, but that combination treatment, where needed, led to significantly better pain relief and improved quality of life. Professor Solomon Tesfaye, Research Director of Diabetes and Endocrinology, and Consultant Physician/ Endocrinologist, led the trial. He said: “This study has great potential to influence treatment guidelines not only in the UK, but across the world.”

Truly remarkable drug helps motor neurone disease patients

Scientists believe a new genetically-targeted therapy to treat motor neurone disease (MND) could be a turning point for patient care, after the results of a Phase 3 clinical trial showed significant physical benefits for patients after 12 months.

Researchers from the Sheffield Institute for Translational Neuroscience (SITraN) found that patients with a faulty SOD1 gene - responsible for two per cent of MND cases - noticed that the progression of their symptoms slowed down 12 months after taking the investigational drug tofersen and notable changes in patients’ motor function and lung function were reported. Sheffield was the only UK site involved in the research, which took place at the Royal Hallamshire Hospital’s NIHR Sheffield Clinical Research Facility. Clinicians and scientists hope that this is a first step towards a licensed therapy for MND patients. Professor Dame Pamela Shaw, Professor of Neurology and Director of SITraN, said: “I have conducted more than 25 MND clinical trials and the tofersen trial is the first trial in which patients have reported an improvement in their motor function. Never before have I heard patients say ‘I am doing things today that I couldn’t do a few months ago - walking in the house without my sticks, walking up the garden steps, writing Christmas cards’. For me this is an important treatment milestone."