Girl believed to be cured of rare genetic disorder thanks to gene therapy

Posted at 10:11 AM, Feb 20, 2023

A girl from the U.K. who was born with a rare genetic disorder may be cured.

Nineteen-month-old Teddi Shaw was diagnosed with metachromatic leukodystrophy, also known as MLD, nearly a year ago, according to the BBC.

The National Institutes of Health says most children with metachromatic leukodystrophy, which attacks the nervous system, die by age 5. The NIH says there is no cure for the disease, however, Teddi was given a treatment called Libmeldy. At a cost of more than $3 million, it's reportedly the most expensive medicine ever approved by the U.K. National Health Service.

Libmeldy is a multi-faceted process. First, a patient's stem cells are removed and taken to a lab to be modified. The faulty gene is corrected to prevent it from attacking the nervous stem. The patient is then given Libmeldy, which is made up of the modified cells. In Teddi's case, her body is responding to the treatment and she is hitting milestones similar to that of other toddlers her age, according to the BBC.

Teddi has an older sister, Nala, who also has MLD. The BBC reports that Nala's case is fatal because it wasn't caught in time.

Libmeldy says its treatment is effective on children who have not yet developed any symptoms or the symptoms are not worsening rapidly.

According to the BBC, Libmeldy took nearly two decades to develop and got EU approval in late 2020. It's not yet approved in the U.S.