Ionis Pharmaceuticals, in a partnership with Roche, has announced that the enrollment has been completed for the third phase of GENERATION HD1, a trial intended to study the safety and efficacy of tominersen. 791 participants have been enrolled in this trial, with sites spanning 100 locations around the world. This medication is an antisense treatment for Huntington’s disease.
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.
Tominersen is an antisense therapy that is intended to reduce the production of the huntingtin protein. It is the first therapy of its kind to combat the underlying cause of HD.
It was previously investigated in Phase 1/2, a 13 week, placebo controlled study. Results proved that it has a favorable safety and tolerability profile. Reductions in the huntingtin protein were also shown.
About Phase 3
The Phase 3 clinical trial is known as GENERATION HD1. It will further evaluate the safety and efficacy of tominersen. It will be administered every two or four months for 25 months and face comparison to a placebo. Its end is expected in 2022.
If this study is successful, tominersen will be the first disease-modifying treatment for Huntington’s disease. It has the potential to better the lives of many.
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