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Faster Diagnoses Promised for Patients with White Matter Disorders

Hundreds more patients with rare genetic disorders that primarily affect the central nervous system could benefit from a new fast-track service, NHS England (NHSE) announced.

Using a combination of virtual consultations with face-to-face care, more than 300 patients with Inherited White Matter Disorders (IWMDs), also known as leukodystrophies, could receive faster diagnoses and specialist care, it said.

IWMDs can present at any age and lead to a wide range of disabilities. For most patients, symptoms progress over time, although some may have a largely inactive form of the disease or one that is relapsing-remitting, with episodes of worsening symptoms. Children with IMWDs tend to have a low average life expectancy of up to 5 years from diagnosis, while adults might have a more slowly progressing condition.

Faster Access to Genetic Tests

Early genetic testing and 'one-stop' virtual clinical reviews would help provide a more specific diagnosis and a clearer path to specialist treatment for children and adults in England who are affected by the disorders, NHSE said. The service would include access to the seven genomic laboratory hubs distributed across England, which have expertise in next-generation sequencing. Registration with the new IWMD clinical registry would mean that eligible patients could have improved access to clinical trials and novel treatments as they become available, NHSE said. 

Under the scheme, patients would also be eligible for improved local support from nearby clinics, which could develop a care plan, including symptom management.

John Stewart, director for specialised commissioning at NHSE, 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."

Addressing Health Inequalities

Sara Hunt, CEO of Alex TLC, the leukodystrophy charity, said: "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."

Last month, NHSE announced that the gene therapy, atidarsagene autotemcel (Libmeldy, Orchard Therapeutics), was provided for a baby girl with the fatal disorder metachromatic leukodystrophy. At a list price of £2.8 million, the drug, which is understood to be the most expensive licenced in Europe, was made available via a confidential discount negotiated between NHSE and the manufacturer. 

The launch of the NHS’s new Inherited White Matter Disorders Diagnostic and Management Service followed publication of the England Rare Diseases Action Plan 2023 by the Department of Health and Social Care, which promised to improve commissioning of services for rare diseases, with coordinated access to specialist care.