In our view, individuals and families have enough power to be decisional participants for clinical trials aimed at finding treatments or even preventions for HD. The decision to participate in such studies should be made before onset of symptoms, as early as possible, considering the positive predictive value of the genetic test.
Around 4,000 people per year in the United States are living with HD. To reduce the burden of the disease on affected individuals, education and awareness of HD are critical.
Huntingtin protein is responsible for Huntington disease. Huntington disease can occur spontaneously, but it is also mostly passed down from a family member with the disease. Most cases of Huntington disease appear to start during childhood or in early adulthood. Some health problems or other triggers can increase the risk of having Huntington disease while another mutation on the HD gene can produce symptoms of a fatal disease.\n\nThe first steps are to evaluate the patient for potential complications due to the condition and also potential underlying causes of the symptoms. Symptoms are then checked in the physical examination. The patient is then offered appropriate screening for underlying health issues or other triggers for the disease, including a referral to a neurologist or geneticist.
Huntington disease is one of the most common genetic disorders affecting millions of people worldwide. Most people have symptoms related to an early loss of motor control such as tremors, slurred speech and unsteady gait. The course of the disease is often slow, with many patients developing other complications, such as dementia and behavioural issues, over the life of their affected relatives.\n
There are a variety of common treatments being used to treat HHD including medications, physical therapy, surgery, diet, special education, and other supportive therapies. Medications used to treat Huntington disease are not necessarily good treatments for the related movement disorders that are comorbid with Huntington disease such as tremor, dysarthria, and chorea.
A cure for Huntington disease does not exist. However, it seems likely that some of the symptoms of Huntington disease can be managed by improving the quality of life without curing the disease or curing the disease without managing the symptoms.
The signs of Huntington disease include tremor, ataxia, confusion, lack of ability with fine motor movements, chorea, myoclonus, and dementia. The signs include psychiatric changes such as depressive symptoms, changes in behavior and psychosis.\n
No clinically meaningful differences were found in overall QoL measures among the two groups, suggesting that ro7234292 has no clinically meaningful effect on QoL in HD. We cannot exclude minor treatment effects on quality of life that are undetectionalable through QoL instruments.
Ro7234292 was well tolerated and safe for up to 12months in the study population. The main clinical events were headache and dizziness and no new safety concerns were identified. Ro7234292 was well tolerated as a monotherapy or co-administered with paroxetine.
This research represents the first time a selective mGluR6 PAM has been identified. The findings of this study expand our knowledge about ro7234292 and encourage further research to establish the exact role of mGluR6 in Huntington's disease pathogenesis.
Patients given ro7234292 had a statistically and clinically significant improvement compared with baseline and placebo treatments for UHDRS. The efficacy and safety of ro7234292 were confirmed in a phase 2 trial of UHD patients with an observational follow-up. This supports the clinical development of ro7234292 for the treatment of UHDRS.