Metachromatic Leukodystrophy (MLD) is a rare genetic disorder that affects the nervous system and organs, causing severe damage and resulting in a life expectancy of just five to eight years. This devastating condition usually develops in babies younger than 30 months and can lead to loss of sight, speech, and hearing, as well as difficulty moving, brain impairment, seizures, and eventually death in childhood.
MLD is caused by a genetic mutation that prevents the development of a crucial enzyme, leading to a build-up of fats that destroy the protective layers around the child’s nerves. The most common form of MLD affects young children, causing progressive loss of motor and cognitive functions.
Libmeldy, manufactured by UK-based pharmaceutical firm Orchard Therapeutics, is a revolutionary gene therapy treatment that offers hope for children diagnosed with MLD. This one-time treatment works by correcting the underlying cause of the disease. The life-saving therapy involves removing the child’s stem cells, replacing the faulty gene that causes MLD, and then re-injecting the treated cells into the patient.
The treatment is now available on the NHS as a specialist service, being delivered at the Royal Manchester Children’s Hospital (RMCH) in collaboration with Manchester’s Centre for Genomic Medicine at Saint Mary’s Hospital. RMCH is one of just five European sites administering the treatment and the only site in the UK.
Libmeldy comes with a list price of £2.8 million, making it one of the most expensive drugs in the world. However, NHS England has negotiated a significant confidential discount to make the treatment available to NHS patients. The treatment is available to babies and young children with no clinical signs or symptoms, as well as those with early symptoms of the condition, provided they can still walk independently and show no evidence of cognitive decline.
The first child in the UK to receive Libmeldy outside of a clinical trial was a 19-month-old girl named Teddi. Her treatment began when she was 12 months old, with stem cell removal in June, followed by the transplant in August. Several months after the procedure, Teddi has fully recovered and is showing no signs of the devastating disease she was born with.
Professor Rob Wynn, Consultant Paediatric Haematologist at RMCH, described the ability to offer this treatment as “an exciting experience” that will “transform outcomes for patients with MLD”. Similarly, Professor Simon Jones, Consultant in Paediatric Inherited Metabolic Disease, emphasized the enormous welcome of being able to offer Libmeldy treatment via the NHS, noting that previously there were no approved treatment options available for MLD.
The availability of Libmeldy on the NHS represents a significant breakthrough in the treatment of MLD. It offers hope to families affected by this devastating condition and demonstrates the NHS’s commitment to providing cutting-edge treatments and therapies for patients with rare diseases.