A 19-month-old baby girl called Teddi has become the first child in the UK to receive a life-saving gene therapy treatment for the fatal disorder, metachromatic leukodystrophy (MLD).
Teddi Shaw suffers from deadly metachromatic leukodystrophy (MLD) but has been given the chance of a normal life thanks to one of the world’s most expensive drugs.
The revolutionary gene therapy, known by its brand name Libmeldy®, has a list price of £2.8 million and was the most expensive drug in the world when NHS England negotiated a significant confidential discount last year to make the treatment available to NHS patients – it remains the most expensive drug licensed in Europe.
The genetic disease causes severe damage to the affected child’s nervous system and organs, resulting in a life expectancy of between just five and eight years.
The life-saving gene therapy works by removing the child’s stem cells and replacing the faulty gene that causes MLD before re-injecting the treated cells into the patient. The treatment began when she was 12 months old with the removal of stem cells at the end of June, which were then treated before the transplant took place in August.
Roughly six months out from treatment, “Teddi is a happy and healthy toddler showing no signs of the devastating disease she was born with,” the NHS statement reads.
Where there is no family history of the condition, MLD is usually diagnosed through a combination of brain MRI, and blood and urine tests, before genetic testing is used to identify the specific mutation.
The treatment is available on the NHS as a specialist service. It is being delivered within Royal Manchester Children’s Hospital – in collaboration with Manchester’s Centre for Genomic Medicine at Saint Mary’s Hospital – both part of Manchester University NHS Foundation Trust (MFT).
Teddi and her sister Nala, 3, were both diagnosed with MLD in April last year but unfortunately, Nala was not eligible for the treatment as the clinical guidance requires the gene treatment to be administered before the irreversible damage caused by the disease progresses too far.