Rare Disease Report

First Signs of Huntington's Disease Detectable Via a New Blood Test

OCTOBER 12, 2018
Einav Keet
A study team from the University College London Institute of Neurology has developed a simple blood test to detect the earliest biomarkers of Huntington’s disease, which they hope can be used in clinical trials for drugs to fight the deadly disease.

Huntington’s disease is an inherited condition that affects the brain and is caused by a HTT gene mutation, leading to uncontrolled movements, emotional problems, and cognitive loss in patients. People with the disease typically begin to experience early symptoms of illness between the ages of 30 to 50 years, which can include uncontrolled movements and changes in behavior, emotion, and judgement. Over time, patients with Huntington’s disease develop difficulty walking, speaking, and swallowing along with personality changes and impaired thinking abilities. According to the National Institute of Neurological Disorders and Stroke, there is no cure or treatment available for patients with Huntington’s disease, who often die within 10 to 30 years of prognosis.

Recent research has identified potential ways to reduce the neurodegeneration caused by Huntington’s disease, with genetic scientists zeroing in on potential new therapies for it as well as other neurodegenerative conditions. Now, in a new study published on September 13, 2018, in the journal Science Translational Medicine, investigators in the United Kingdom report that a blood test is capable of detecting the earliest signs of Huntington’s disease—even beating brain scans. Early detection, they write, could help the development of effective therapeutic strategies to block or delay disease progression.

For the study, the research team looked at 40 patients with Huntington’s disease at different stages of disease progression, 20 people with the genetic mutation for the disease who did not yet have a Huntington’s diagnosis, and a control group of 20 healthy patients. The investigators found that mutant huntingtin (mHTT) and neurofilament light (NfL) protein concentrations in blood and cerebrospinal fluid correlated with disease severity in patients with Huntington’s disease and that changes in these biomarkers offered evidence of neurodegeneration before brain scans. The findings, according to the investigators, could be helpful in clinical trials for new disease-altering treatments.

In an interview with Rare Disease Report®, first author Lauren M. Byrne, MRes, explained how the blood test offers information not revealed by genetic testing for Huntington’s disease.

“The genetic diagnostic test for Huntington’s disease can distinguish who will or will not develop Huntington’s disease but it is not able to tell us when symptoms will begin, how fast the disease will progress, or when biological and pathological changes begin within individuals, so we need other ways to measure these,” Byrne said. “Measuring biomarkers also have the added advantage in that if they are a true marker of Huntington’s disease pathology they should be altered by an effective therapy whereas the genetic cause would not, so they could be very important for therapeutic development.”

Byrne added that measuring mHTT and NfL protein concentrations may offer more sensitive and robust ways to measure whether a drug has a therapeutic benefit in clinical trials. “Having early and sensitive detection of disease alterations could help inform when to start treatment in premanifest gene carriers when disease-modifying therapies become available,” she explained. “These measurements could be integrated into preclinical research, and therefore, aid translational research in Huntington’s disease therapeutics.”

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