Netherlands-based uniQure commenced the world’s first one-time administered gene therapy to enter clinical trials for the treatment of Huntington’s disease.

Huntington’s Disease

An inherited disorder, this deadly disease results in the death of brain cells. The earliest symptoms typically include subtle problems with mood or other mental abilities. A general lack of coordination and an unsteady gain can follow. Often as the disease advances uncoordinated jerky body movements become noticeable. Ultimately a patient cannot walk and dementia can set in. Symptoms often start between 30 and 50 years of age but can start at any age. HD is typically inherited however up to 10% of cases are due to a new mutation.

The disease is caused by an autosomal dominant mutation in either of an individual’s two copies of a gene called Huntingtin. The Huntingtin gene offers the genetic information for a protein that is also called “huntingtin.” This means that the child of a person affected typically has a 50% chance of inheriting the disease. Diagnosis is by genetic testing which can be carried out at any time regardless of whether or not symptoms are present. This can raise ethical debates. Frequency is reported as 4-15 in every 100,000 of European descent

The Study

This is the first study of AMT-130 in patients with early manifest HD and is designed to establish safety and proof-of-concept (PoC). CT-AMT 130-01 is a Phase I/II, randomized, multicenter, dose-escalation, double-blind, imitation surgery, first-in-human (FIH) study. The sponsor is seeking 26 participants with inclusion and exclusion criteria published on

AMT-130 is an investigational, single administration gene therapy intended to modify the disease course for HD. Preclinical studies have revealed that AMT-130 lowers huntingtin protein and improved Huntington disease signs in animal models.

This five-year study consists of a blinded 18-month Core Study Period to evaluate the safety and potential impact of AMT-130 on disease progression and an unblinded 3.5 -year Long-Term Period with an annual follow-up visit to evaluate the safety of AMT-130 and disease progression.

Clinical Research Sites & Investigators

The study will be conducted at Ohio State University, the University of Texas and Virginia Commonwealth University.

·Ohio State University/Principal Investigator: Sandra Kostyk, MD, PhD

·University of Texas/Principal Investigator: Erin Furr-Stimming, PMD

·Virginia Commonwealth University, Department of Neurology/Principal Investigator: Claudia Testa, MD

The Sponsor: uniQure

Based in the Netherlands with a presence in the United States, uniQure focuses on gene therapy—single treatments with potentially curative results. Founded in 2012, they position themselves as a leader in gene therapy and have developed the first and currently one of the few gene therapy products to consider regulatory approval in the European Union. They leverage their modular and validated technology platform to rapidly advance a pipeline of proprietary and partnered gene therapies to treat patients with severe genetic diseases.


At $51.38 price per share, market capitalization is $2.24 billion, like many emerging life science sponsors they operate as a loss. The big bet is on the future of the platform. Call to Action: If you are interested in this potentially breakthrough new gene therapy approach to targeting Huntington disease then monitor TrialSite News’ Daily Digest as our algorithms are tracking this study.

Source: Clinical Trials

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