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A US man with Hunter syndrome, a rare genetic disorder, has become the first human patient to trial a gene-editing treatment inside his body.
Key points:
- Brian Madeux, 44, is undergoing gene therapy for rare metabolic disorder Hunter syndrome
- California-based Sangamo Therapeutics is able to target a specific gene inside the body
- While the technology carry risks, there is huge potential for better treatments in future
Scientists acknowledge that gene-editing procedures carry potential risks, but there is huge potential too for better treatments for patients in future.
Brian Madeux, a 44-year-old man with the inherited metabolic disorder, has had 26 surgeries to treat his symptoms, and said he has a lot of hope for this new treatment.
"Gene therapy, I've been waiting for that my whole life," Mr Madeux said.
Gene editing, where a gene is inserted into a patient's DNA, has been around since the 1980s.
But Mr Madeux's procedure promises to be far more precise than ever before.
He is taking part in a clinical trial by California company Sangamo Therapeutics, which has been able to target specific genes in a patient.
Professor Peter Koopman, an expert in genomics at the University of Queensland, said the case is unique because the procedure is taking place inside the patient's body.
"Here we have a case where doctors are trying to repair the gene in a particular organ in the patient without taking the organ out first," Professor Koopman said.
"[Hunter syndrome] is caused by a defect in a gene that makes an enzyme that breaks down the sugars.
"The purpose of the gene-editing therapy in this case is to repair the gene that makes the enzyme, so you get a correct enzyme made and the sugars are broken down appropriately."
Gene editing carries huge potential: scientists
In three months Mr Madeux will undergo tests to see what affect the treatment has had, and scientists will be watching closely.
What is Hunter syndrome?
- A rare genetic disorder occurring almost exclusively in males caused by a missing enzyme
- Infants with the disorder develop full lips, large cheeks, a broad nose and forehead
- Life expectancy for those with severe Hunter syndrome is 10 to 20 years
Professor Koopman said while the process did present a risk for Mr Madeux, the results of animal tests so far have been "very encouraging".
"Of course, no therapies can be trialled in humans without extensive ethical and scientific reviews. So there's a very good change that it will work," he said.
Dr Sara Howden from the Murdoch Children's Research Institute said despite potential risks, gene-editing treatments have huge potential to change lives.
"Probably most diseases, if not all, are caused by a genetic defect, so just a very small change in our DNA can be the difference between living a healthy normal life or one that's burdened with disease," Dr Howden said.
"So that's why gene editing has such enormous potential."
Professor Koopman is also confident in the potential of gene-editing technology.
"If successful, then the gene will be repaired and the patient will start producing an enzyme that works and is able to break down the sugars," he said.
"People with genetic disease are looking for answer, cures, and a better life.
"Gene-editing technologies hold the promise to make that happen."
Topics: genetic-disorders, genetics, medical-procedures, united-states
First posted