First treatment for Tay-Sachs disease successfully tested

Positive results of drug's clinical trial heralded as "major breakthrough" in treating rare genetic disease common among Ashkenazi Jews.

Dan Verbin ,

Hospital bed
Hospital bed
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A new treatment for Tay-Sachs disease has shown success in a late-stage clinical trial, with positive data results for IntraBio’s drug IB1001.

The life saving drug would be the first effective treatment for Tay-Sachs, also known as GM2 Gangliosidosis.

Tay-Sachs is a rare genetic disorder that is common among Ashkenazi Jews, and certain other populations.

“IB1001 demonstrated a statistically significant and clinically meaningful improvement in symptoms, functioning, and quality of life in both the primary and secondary endpoints for pediatric and adult patients with GM2 Gangliosidosis,” said IntraBio in a press release.

The clinical trial found that “IB1001 was observed to be safe and well-tolerated, with no drug-related serious adverse events.”

IntraBio called the results of the clinical trial “exciting” and said that it would continue to work with regulators.

"The results of this study are hugely important for the GM2 community," said Dr. Susanne Schneider, Principal Investigator and Professor of Neurology from Ludwig Maximilian University of Munich. "IB1001 is the first drug to demonstrate a statistically significant and clinically meaningful effect for the treatment of GM2 Gangliosidosis."

She added: "IB1001 has a very compelling safety profile, easy oral administration [sachet mixed with water], affirming its very favourable risk/benefit profile as a treatment for this devastating disease."

The potential treatment is being hailed as a major breakthrough by charities involved with raising money for Tay-Sachs research.

Rick Karl, President of the Cure Tay-Sachs Foundation and Dan Lewi, Chief Executive Officer of the Cure Action for Tay-Sachs Foundation, said in a joint statement that IB1001 is the “first drug to offer hope to the patients and families affected [by Tay-Sachs].”

Tay-Sachs is a progressive, fatal illness that affects the nervous system. There is no currently approved medical treatment.

“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,” said Karl and Lewi.

University of Oxford Professor Antony Galione, IntraBio’s scientific founder, said that IB1001 would be the first available treatment for the disease.

“We are very excited that IB1001 is the first drug that is effective for this disorder and will improve the lives of so many patients and their families,” he said.

Approximately 1 in 3,600 Ashkenazi Jews are born with the disease. In the United States, about 1 in 27 to 1 in 30 Ashkenazi Jews are carriers of a recessive gene that causes Tay-Sachs. Both parents must have the recessive gene for the disease to occur in a child.



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