Czech toddler with rare genetic disorder recovering after treatment funded by public donations

Little Martin, a two-year-old Czech boy with a rare hereditary disorder, is currently recovering in a hospital in France after undergoing a revolutionary new gene therapy. His treatment was paid for by public donations of more than CZK 150 million.

With his little head of curly hair, two-year-old Martin looks like a cherub in a Renaissance painting. But he was born with a very human condition – an ultra-rare inherited disease called AADC deficiency. Patients with this disorder typically experience developmental delays, weak muscle tone and inability to control the movement of their limbs. It is a long-term, debilitating and life-threatening condition that can lead to multiple organ failure and ultimately death, even before the sufferer is 10 years old.

Thomas Roujeau  | Photo: Martin Balucha,  Czech Radio

The disease typically manifests within the first year of life and can appear with different degrees of severity, but Thomas Roujeau, one of the French doctors who operated on Martin, told Radio Prague that he had a very severe form of the disease.

“He wasn’t able to hold his head up by himself or even to sit up, which are developmental stages that healthy children reach at around 6 to 9 months usually. He could observe his surroundings and respond to certain types of music, so his parents were able to communicate with him in some form, but he couldn’t speak.”

The condition is caused by malfunctions in the gene that produces the AADC enzyme, which is needed to produce certain substances vital for the normal functioning of the brain and nerves.

Before the drug that was used in Martin’s gene therapy was approved by the European Medicines Agency in May 2022, there were no approved medications for treating AADC deficiency. Patients’ symptoms could be managed, but nothing could be done to address the underlying cause of the disease.

With the approval of Upstaza, that changed. Upstaza consists of a modified virus that contains a functional version of the AADC gene. The drug is administered by infusion into the patients’ brain, a process that in Martin’s case took 10 hours. From there, the virus (which does not cause disease in humans) carries the AADC gene into nerve cells, enabling them to produce the missing enzyme, which in turn enables the cells to produce the substances they need to function properly.

However, there was still another hurdle for Martin, even though Upstaza was approved not long after he was born. The drug is extremely expensive – and is not covered by Czech health insurance. So his parents took to social media to try to raise the money for his treatment, and received an overwhelming response – Czechs donated over CZK 150 million (EUR 6 million) for Martin’s treatment in France.

He was taken to a university hospital in Montpellier, where the procedure had already been performed on a few other children. Doctor Thomas Roujeau told Radio Prague a couple of days after the operation that although it was still early days, Martin seemed to be responding well.

“Martin responded to the treatment very positively. The very next day, after a night in the intensive care unit, he was able to go to a normal hospital room. For post-operative follow-up, when things are going very well like in his case, the hospital stay is around five to seven days.”

However, he adds that unlike some other procedures, this one doesn’t have an immediate effect.

“We expect the first clinical signs of the enzyme to appear within a month. The enzyme will increasingly be produced on its own, until production is as close as possible to what it would have been had he not had this genetic mutation.”

Martin is now recovering in hospital, and all being well, will return to Czechia with his parents in the next few days.