Gene Therapy Being Studied as Treatment for Huntington’s Disease

Current treatment for Huntington’s disease only relieves symptoms, allowing for the progression of the disease to continue. UniQure, a company that works with gene therapies, aims to change this. They have created a new gene therapy called AMT-130 that is intended to lower the levels of the toxic protein that causes Huntington’s.

About Huntington’s Disease

Huntington’s disease is a progressive, neurological condition that sees the deterioration of the brain. It causes the loss of mental and physical functions. This disease is very rare, affecting three to seven of every 100,000 people. It tends to affect those of European ancestry, with diagnosis typically occurring from age 30 to 40.

The HTT gene is mutated in those with this condition, and it creates the instructions for the protein huntingtin. The exact purpose of this protein is unknown, but doctors believe that it is involved in the health of neurons. It accumulates in long chains due to the mutation and it will then bind to neurons which lose function and die. This gene is inherited in an autosomal dominant pattern, meaning only one parent has to pass down the mutated gene for a child to be affected.

Huntington’s symptoms fall into one of three categories: emotional issues, cognitive decline, or uncontrolled motor symptoms. The first form of symptoms may manifest as personality changes, mood swings, anxiety, depression, and impulsive behavior. Cognitive decline sees effects such as poor decision-making, forgetfulness, and issues with learning and retaining new information. The last category includes symptoms like twitching, shrugging, and issues with walking, coordination, and swallowing. Chorea, or uncontrolled movements, is one of the most common effects.

Genetic testing is the major method used to diagnose this disease, as people are typically aware that Huntington’s runs in their family. Once a diagnosis is obtained and symptoms begin, treatment is symptomatic. Anti-psychotic drugs or dopamine-depleting drugs are used to suppress chorea. Doctors may also prescribe anti-depressants, neuroleptics, and antiepileptic drugs.

About AMT-130

This gene therapy is meant to lower the level of the huntingtin protein, which will stop it from killing neurons, effectively slowing the progression of the disease. Mini-pig and mouse models were used to study this gene therapy, both of which proved that AMT-130 has the potential to reduce the huntingtin protein.

As Huntington’s disease is only caused by one gene, experts in the field are confident that gene therapies can be a viable therapy. While they believe in these therapies, they also stress the importance of safety and efficacy. There should be no treatments that have poor safety profiles.

Gene Therapies for Huntington’s

Other companies are working on gene therapies as well. Roche and Wave Life Sciences have gene therapies in various stages of development. Roche’s is currently in the third phase of its study, with uniQure not far behind.

All of these studies are feeding off of the success of Zolgensma, a gene therapy for spinal muscular atrophy. Its commercial success is also inspiring other companies to work on gene therapies.

Companies hope that their therapies find success so that they may address the unmet need for treatments of Huntington’s disease.

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