First human trial of gene therapy for Fabry disease

A Canadian man with Fabry disease – a rare, inherited enzyme deficiency – is the first person to be given gene therapy for the condition.

The clinical trial aims to test the safety of the gene therapy, which has proved successful in animal trials.

'It's too soon to say whether this therapy will ultimately be a long-term treatment for Fabry disease but, based on the success of animal trials, we are hopeful there will be a benefit to patients,' said Dr Aneal Khan of the Alberta Children's Hospital Research Institute in Calgary, Canada, who is leading the clinical trial.

The researchers harvested blood stem cells from 48-year-old Fabry disease patient Darren Bidulka, and genetically engineered them to express the gene GLA, before transplanting them back into him. Fabry disease patients have a faulty version of this gene, which is responsible for the production of the enzyme alpha-galactosidase A, which breaks down the fat globotriaosylceramide. Patients experience a harmful buildup of this fat in the body, leading to organ damage – including kidney failure and cardiovascular issues – chronic pain, and gastrointestinal problems.

Fabry disease is an X-linked genetic disorder that affects around 1 in 50,000 males. Current treatment involves two-hour-long enzyme infusions on a bi-weekly basis to manage the symptoms. 'A long-term treatment for Fabry disease would be fantastic, but I don't want to create any false hopes for myself or others at this preliminary stage,' said Bidulka. 'If my involvement in the research helps shed more light on the disease and brings doctors closer to an ultimate cure, then it will have been worth it.'

The researchers acknowledge that success in animal trials does not always translate into success in human trials. However, they are hopeful about the trial's prospects. 'Even some improvement in enzyme levels could brighten the long-term outlook for these patients and lead to a better quality of life,' said Dr Khan.