In the spring of 1872, a young physician in New York published a paper about “chorea,” a condition that caused people to lose their ability to speak, control movements, and behave. He noted that the condition was hereditary and seemed to affect adults in mid- to late life.
Huntington’s Disease was later named after the physician, and in the 154 years since George Huntington provided the first clinical description, scientists have learned more about the neurodegenerative disease. But they have not been able to find a cure.
Recently, a promising new gene therapy has helped slow disease progression in clinical trials. Advocates are hopeful it could help Huntington’s patients live longer, better lives.
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What Is Huntington’s Disease?
Huntington’s Disease is a neurodegenerative disease with symptoms that typically begin in a person’s forties or fifties, according to a report in GeneReviews. The disease is hereditary, so a person with a parent who has Huntington’s Disease has a 50 percent chance of developing it themselves.
With Huntington’s Disease, a person experiences a loss of motor and cognitive functions. Early symptoms might include involuntary movements like sudden jerks or spasms. As the disease progresses, the person may eventually lose independent speech and mobility. They will also become incontinent.
The person will also experience psychiatric changes and may have involuntary irritability, aggression, and outbursts. All of these changes, both physical and psychiatric, will persist for more than a decade. Huntington’s patients live for a median of 15 to 18 years after diagnosis.
“…Huntington’s is often called one of the ‘cruelest diseases known to man’ because it combines the symptoms of Alzheimer’s, Parkinson’s, and ALS all at once,” Amy Gray, president & CEO of Huntington’s Disease Society of America, an advocacy group based in New York, told Discover.
Is there a Cure for Huntington’s Disease?
Huntington’s Disease is a genetic condition, and scientists sequenced the responsible gene more than thirty years ago, according to a study in Expert Review of Molecular Diagnostics. But until recently, no therapy has shown the ability to stop or slow the disease progression.
“We currently have no approved disease-modifying therapies,” Gray said.
That might be changing. A Dutch biopharmaceutical company recently announced the results of a new clinical trial in which patients with Huntington’s received AMT-130, a gene therapy that silences the gene responsible for the disease.
According to the NIH, the delivery of AMT-130 required only one dose and was administered during a neurosurgical procedure. AMT-130 then reduces the Huntington’s protein, slowing the disease’s progression and lessening symptoms.
“A therapy that can slow or stop progression of disease means preserving a person’s ability to walk, speak, and connect with their loved ones, effectively giving families their futures back,” Gray told Discover.
Next Steps For Huntington’s Disease
AMT-130 is still in clinical development. So far, patients selected for the trial were in the early stages of Huntington’s Disease and received either a high or low dose of AMT-130. Three years later, participants who received the high dose of AMT-130 experienced a 75 percent reduction in disease progression when compared to those who did not receive the treatment.
In the U.S., there are 12 study locations, including the Johns Hopkins University in Baltimore, Rush University Medical Center in Chicago, and the University of Washington Medical Center. At the University of Alabama-Birmingham, seven patients received the high dose and reported having better thinking, motor control, and ability to carry out their daily functions.
The treatment has not yet been approved by the US. Food and Drug Administration, but the paperwork is in progress. Advocates like Gray are hopeful the treatment could be used in the future to stop Huntington’s Disease from progressing and allow people to have more quality time.
“Huntington’s is a relentless, neurodegenerative condition that impacts not just the individual, but entire families across generations,” Gray said to Discover. “Finding a disease-modifying therapy that significantly slows progression is an urgent necessity because every month without one represents an irreversible loss of neurons.”
This article is not offering medical advice and should be used for informational purposes only.
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