Leukodystrophy diagnostics

New NHS service to speed up diagnosis and improve care for hundreds

A ground-breaking new service is set to expedite diagnosis and specialist treatment for hundreds of NHS patients experiencing inherited white matter disorders (IWMDs) every single year.

IWMDs – otherwise known as leukodystrophies – are a range of diseases that affect the white matter of the brain and an individual’s spinal cord, causing problems with speech, hearing, mobility, swallowing, vision as well as overall loss of cognition.

But, in a move by NHS England to improve the care of such conditions, patients will now be able to benefit from early genetic testing and virtual reviews which will help speed up diagnosis meaning those affected can get the support they need as quickly as possible, improving their outcomes and quality of life as a result.

Serving more than 300 patients a year, the new service will harness the power of specialty neurology and molecular genetics professionals to give people a more personalised treatment plan, supporting disease understanding and symptom management.

The Diagnostic and Management Service will also improve patients’ access to the latest treatments and clinical trials by registering those eligible with the new IWMD clinical registry.

Director for Specialised Commissioning at NHS England, John Stewart, said: “This new service is a pioneering model of NHS care, with a combination of virtual and face-to-face care with access to a range of experts.

“This means hundreds of children and adults will see IWMD specialists and get a genetic diagnosis sooner. The new clinical registry also provides opportunities for clinicians to learn more about the condition, identify patients likely to benefit from trials of potential new treatments and will enable patients to share information about how they are feeling.”

The news comes just a month after the health service announced that the first baby in the UK had received a life-saving gene therapy for metachromatic leukodystrophy.

Chief Executive of Alex, The Leukodystrophy Charity, Sara Hunt, detailed her response to the news and argued why it should provoke immediate change for new born screening in the latest edition of our online magazine.

On the new service, Hunt commented: “The need for improved access to care and treatments for the leukodystrophy community are well known to Alex TLC. This new service and registry will help to alleviate these health inequalities, improve patient outcomes and provide invaluable data with which to promote vital research.

“As patient voice representatives for this project, it has been inspirational to see how valued and influential our community’s priorities have been within development and implementation of the Service and Registry. The impact for patients, and those that care for them, will be significant and we look forward to our continued involvement.”

National Health Executive, Jan/Feb, Cover

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