Scientists may have discovered first gene therapy for incurable brain disease

Scientists may have discovered the first therapy for Huntington’s disease, a brain disorder that until now has had no effective treatments.

Researchers at the University of College London (UCL) announced positive results from a global clinical trial for a new gene therapy, AMT-130.

Developed by the Dutch biotechnology company uniQure, the therapy is the first to be tested in people with Huntington’s, according to the researchers.

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Huntington’s disease is a rare, inherited neurodegenerative disorder that progressively damages nerve cells (neurons) in the brain, as defined by the National Institutes of Neurological Disorders and Stroke.

The disease, which typically emerges between 30 and 50 years of age, is caused by a mutation in the HTT gene, which triggers the cells to create a protein called huntingtin that can cause damage to the brain.

Patients may experience a combination of movement, cognitive and psychiatric symptoms. Involuntary jerky motions and stiffness are common, as well as trouble walking, speaking and swallowing. 

Cognitive symptoms can include memory loss and trouble concentrating and making decisions. Emotional and behavioral changes can also appear, according to multiple medical sources.

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The disease typically leads to disability and then death within 20 years of the start of neurological symptoms, according to UCL.

AMT-130 is a one-time gene therapy that is injected into the brain, introducing new, functional DNA via a neurosurgical procedure. The drug results in less production of the harmful protein huntingtin.

“My patients in the trial are stable over time in a way I’m not used to seeing in Huntington’s disease.”

In the three-year clinical trial at UCL, 29 Huntington’s patients received the experimental drug. Those who got a high dosage of AMT-130 experienced 75% less disease progression compared to people who received only the standard of care, a study press release reported.

Disease progression was measured by the Unified Huntington’s Disease Rating Scale, which assesses motor, cognitive and functional capabilities. 

Another component of the study was measurement of neurofilament light protein (NfL), which is found in the spinal fluid of Huntington’s patients as more neurons become damaged. 

The participants who took the experimental drug were found to have less of the protein at the end of the trial, although levels typically would have increased 20% to 30% over that time period.

The drug was generally found to be “well-tolerated” with a “manageable safety profile,” the release said.

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“These groundbreaking data are the most convincing evidence in the field to date and underscore the disease-modifying effect in Huntington’s disease, where an urgent need persists,” lead scientific advisor Professor Sarah Tabrizi at UCL Huntington’s Disease Research Centre said in the release.  

“For patients, AMT-130 has the potential to preserve daily function, keep them in work longer and meaningfully slow disease progression.”

Based on the results, Professor Ed Wild, principal investigator of the UCL Huntington’s Disease Centre trial site at UCL and UCLH, said it is “likely” that AMT-130 will be the first licensed treatment to slow Huntington’s disease, which he calls “truly world-changing stuff.”

“My patients in the trial are stable over time in a way I’m not used to seeing in Huntington’s disease – and one of them is my only medically-retired Huntington’s disease patient who has been able to go back to work.”

Dr. Earnest Lee Murray, a board-certified neurologist at Jackson-Madison County General Hospital in Jackson, Tennessee, noted the reasons for the longtime difficulties in treating Huntington’s.

“It has been a challenge identifying specific targets for therapies,” Murray, who was not involved in the new study, told Fox News Digital. “Also, there’s always the challenge of crossing the blood-brain barrier.” 

Most new therapies also utilize animal models in early clinical trials, in which it’s difficult to replicate the complexity of Huntington’s, he added.

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Current treatments for the disease focus only on the major symptoms, Lee noted — “mainly the uncontrollable movements these patients experience, called chorea.” 

“The fact that we potentially have the possibility of a medication that alters the actual disease course as opposed to just treating symptoms is certainly promising.”

Potential limitations and next steps

While this study is “a move in the right direction,” Lee said, some limitations exist.

“We need to work hard to make it available to everyone who needs it.”

“It involves a very small cohort of patients and is in the very early stages of potential development,” he said. “We have to wait to see whether larger blinded studies confirm the potential efficacy of the treatment and also monitor for any potential side effects.”

The results of the trial will be presented next month at the HD Clinical Research Congress in Nashville, Tennessee.

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The company plans to submit an application to the FDA for accelerated approval of the drug early next year, uniQure confirmed to Fox News Digital.

“If that happens, we need to work hard to make it available to everyone who needs it, while working no less diligently to add more effective treatments to the list,” Wild added.