Improving quality of life measures in Huntington disease
Huntington disease is an autosomal dominant neurodegenerative disease which affects approximately one in 10,000 individuals in the US. Children of carrier parents have a 50% chance of inheriting the mutation responsible for the disease. Clinical symptoms include motor impairments, as well as behavioural and cognitive abnormalities. Symptoms typically begin around ages 30 to 50. One of the hallmark symptoms of the disease is chorea – irregular, jerky, involuntary movements that are often abrupt and unpredictable. Chorea can affect different parts of the body, inhibiting speech, swallowing, walking and posture. Though clinical progression is different for each patient, Huntington disease is usually fatal within 15 to 20 years following diagnosis. Pneumonia and heart failure are two of the leading causes of death in Huntington disease.
A disease without a cure
Genetic testing for individuals who may be affected is available after the age of 18. In addition, couples who are carriers may undergo pre-implantation genetic diagnostic testing with in vitro fertilisation (IVF) to ensure that fertilised eggs contain no mutation. Beyond preventative measures, there is currently no treatment for Huntington disease. While medications can improve the severity of symptoms, they are often associated with side effects that include somnolence, dysphagia, gait issues and apathy, which can have a serious impact on quality of life. Given the lack of a cure for the disease and that the only treatments are palliative, it is critical to be able to evaluate how health-related quality of life (HRQOL) is affected in these patients. To do this, we need measures that help us understand patient perspectives that are relevant to individuals with Huntington disease.
Challenges in measuring quality of life
Well-being is a critical aspect in Huntington disease. As such, Dr Carlozzi’s research aims to develop new health-related quality of life patient-reported outcome (PRO) measures specifically for individuals with Huntington disease. Existing measures currently used for this are often irrelevant or insensitive to Huntington disease-specific criteria, and can limit the frequency at which meaningful change is observed. Through her work, Dr Carlozzi hopes to change this by creating Huntington disease-sensitive measures that can increase clinical confidence in determining meaningful change in health-related quality of life.