Metachromatic leukodystrostophy (MLD) is a rare genetic disease which is thought to affect 1 in 40,000 children born in the USA. It causes progressive damage to the nervous system and brain. In its most common infantile form it is devastating and fatal. The Mayo Clinic’s web site is unequivocal….
There is no cure for metachromatic leukodystrophy yet. Depending on the form and age of onset, early identification and treatment may help manage some signs and symptoms and delay progression of the disorder.
… and out of date! A triallist was treated with a gene theraphy now called Libmeldy in 2012 and shows no sign of the disease. The BBC has followed the treatment of the first child, Teddi, to be treated after NHS England approval.
Libmeldy was developed by a British company, Orchard Therapeutics. Its CEO and co-founder, Bobby Gaspar, spent many years as a consultant at Great Ormond Street Hospital, while carrying out research into potential therapies.
"Bringing a new medicine to the world that can potentially cure these devastating diseases is incredibly rewarding," he says, adding that it was "a very long journey to develop a medicine like this".
Libmeldy took nearly 20 years to develop, with the first human trials taking place in 2010. It got EU approval in December 2020 and is now available through the NHS.
The list price of the treatment is £ 2.875 million although a reduced, confidential, price was negotiated by the NHS. (I presume the cost of the extended hospital stay to harvest and re-introduce stem cells etc. is not included in this). The decision to pay for this treatment was quite simple; in brutal terms it would probably cost more in the perhaps decade or more to provide treatment which “may help manage some signs and symptoms and delay progression of the disorder” before death. The human cost of parents seeing their child fade away is of course immeasurable.
Sadly Teddi’s older sister Nala is one of those for who diagnosis was too late for the treatment to be effective. Her diagnosis did mean that Teddi could be tested for the gene defect, treated and, hopefully, live a long and productive life — paying back in taxes part of this cost.
Currently babies in the UK have “pinprick” blood tests to screen for 5 genetic diseases. Later this year Genomics England will be starting a pilot project offering whole genome sequencing for 100,000 new borns to identify about 200 genetic diseases. Treatment can be started as soon as possible. Teddi’s parents are campaigning to ensure that MLD is included in these tests. The trial was planned for 2020 but the sequencing machines had to be repurposed to identify the various strains of SARS-CoV-2 as the virus mutated. Genomics England also offers sequencing to identify the genetic causes of cancers and therefore to provide the most effective treatment quickly.
"It also demonstrates how the NHS Genomic Medicine Service in England is world leading in providing a state-of-the-art toolkit of genomic cancer tests to all patients, free at the point of care and tailored to their individual needs. In this case, collaboration across regional laboratories helped verify that the growth was not cancerous.
“The tailored, cost-effective application of genomic testing within the NHS will improve cancer diagnosis and more accurately match cancer treatments with the patients who are most likely to benefit.”
So much for the horrors of “socialised medicine”!