This is Volunteer Appreciation Week and we would like to thank all the brave individuals who have volunteered their time to participate in vital clinical trials and surveys to support HD research. Your involvement today will lead to future treatments and, for that, we thank you!

HDBuzz covers uniQure’s novel gene therapy, AMT-130

As mentioned in HDSA’s April 8th blog postuniQure recently shared the exciting news that AMT-130, a groundbreaking HD therapy, has been administered to human participants in a small safety trial. A later press release shared some promising studies in animals that were recently published in three different scientific journals. The latest article from HDBuzz laid out the details. AMT-130 is the first ever HD gene therapy to be tested in humans. The new drug works to reduce the amount of huntingtin protein in the brain by inactivating the RNA blueprint of the HD geneAlternative to ASOs like those recently under clinical study by Roche and Wave, which require regular drug injections, this gene therapy is administered with a single, irreversible dose to alter information stored in brain cellsData from small and large animals shows that AMT-130 spreads to many areas of the brain, without major safety issues so far. The human Phase I/II trial is evaluating the safety and Huntingtin lowering effects of AMT-130 and its novel surgical delivery to deep brain tissues. uniQure will expand the trial in 16 new patients in the US and begin an open label study with 15 participants in Europe.  

PTC Therapeutics shares early success of PTC518 

In their newest investors’ update, PTC Therapeutics released promising study data for a huntingtin-lowering drug in development, PTC518. The orally administered therapeutic utilizes splicing technology to interfere with production of the huntingtin protein. By inserting, or splicing, a specially engineered piece of genetic information into the mRNA message that codes huntingtin protein, PTC518 causes the mRNA message to break down before it can be made into a functional huntingtin protein. Taken by mouth, PTC518 caspread widely, with the goal of reducing levels of huntingtin throughout the body and brain. Early results from animal models are encouragingwith no safety concerns thus far, the data shows that a single dose of PTC518 can lower huntingtin in HD mice, with higher doses leading to lower levels of huntingtin. A Phase I clinical trial is ongoing in healthy volunteers, with future studies to follow in individuals with HD. 

Survey study for caregivers

Dr. Kim Shifren of Towson University in Maryland is conducting a study on caregivers across the lifespan. If you have provided care for a parent or adult relative with Huntington’s disease, then you may be eligible to participate in this study. The study takes about 30 minutes to complete and includes self-assessment of caregiver experiences, personal characteristics, mental and physical health. 

To be eligible to participate in this study you must be 18 years old or older, be able to complete the questionnaires yourself, and have provided care for a parent or adult relative with Huntington’s disease for at least one month, either currently or in the past. Providing care can include basic activities such as bathing, dressing, feeding and/or instrumental care which includes household tasks, shopping, finances, and providing medications. 

To access the study, please follow this link: