‘Major breakthrough’ as first effective drug for Tay-Sachs is successfully tested

Rare inherited disorder is more prevalent among children of Ashkenazi origin than the wider population


Cropped shot of shelves in a pharmacy

A pioneering new treatment for Tay-Sachs disease has shown positive results in a late-stage clinical trial, with charities hailing the "major breakthrough".  

IntraBio, a US pharmaceutical company based in Oxford, announced the results last week of what it said was the “first successful clinical trial” for the treatment of Tay-Sachs disease.

The rare inherited disorder is more prevalent among children of Ashkenazi origin and affects the nervous system.

Tay-Sachs is usually fatal and its symptoms include seizures, loss of vision and paralysis and gets progressively worse over time.

IntraBio said it would continue to work with regulators and discuss “the exciting results" of its clinical trial.

“We believe the positive results of the trial speak for themselves, and are thrilled to continue to show the efficacy and safety of [the drug],” a spokesperson for the firm said.

The drug, called IB1001 and taken orally dissolved in water, was evaluated for its effectiveness in treating symptoms caused by Tay-Sachs and its severe variation, Sandhoff.

Thirty patients over the age of six with a confirmed diagnosis took part from eight locations in the US, UK and Europe. 

The trial found the drug to be “safe and well-tolerated” and deliver “statistically significant and clinically meaningful” improvements in symptoms. 

The full results are set to be published in a peer-reviewed publication next month.

IntraBio’s scientific founder, Oxford professor Antony Galione, said IB1001 was "the first drug that is effective for this disorder.”

He added that it would “improve the lives of so many patients and their families” and said the team would continue to investigate the drug against other diseases. 

Principal investigator Dr Susanne Schneider of Ludwig Maximilian University of Munich, said the “results were hugely important” for those affected by Tay Sachs and Sandhoff diseases.

“IB1001 has a very compelling safety profile, easy oral administration, affirming its very favourable risk/benefit profile as a treatment for this devastating disease,” she said.

Tay-Sachs charities welcomed the “major breakthrough.” 

“It is the first drug to offer hope to the patients and families affected by these devastating diseases,” said Cure Action for Tay-Sachs Foundation CEO chief Dan Lewi and Rick Karl, who heads the Cure Tay-Sachs Foundation.

“They are progressive, life-threatening conditions with no approved medicinal treatments. 

“There is an urgent need for this effective treatment to be approved and made available for patients in our community before the window of therapeutic opportunity is lost,” they said in a joint statement.

One in 25 Ashkenazi Jews are carriers of the Tay-Sachs disease gene but it can only be passed on if carried by both parents.

It is incurable, though medicine can help relieve some symptoms.

In the UK, those with Ashkenazi ancestry can access free genetic carrier screening for Tay-Sachs through the NHS. 

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