- This Month in HD Research: 30 Year anniversary of the discovery of the HD gene  
- What motivates someone to seek predictive genetic testing?  
- Novartis Announces positive long-term data for Zolgensma  

This Month in HD Research: 30 Year anniversary of the discovery of the HD gene  

On March 26th, 1993, the discovery of the CAG repeat mutation that causes Huntington’s disease was published. The authors were the Huntington’s Disease Collaborative Research Group, an assembly of scientists across six institutions. Around 1984, the search had been narrowed to a certain genetic “neighborhood” on chromosome 4, but it took another decade to determine that the cause of HD is a CAG repeat mutation in the huntingtin gene. Integral to this discovery was a huge community of families affected by HD in the Lake Maracaibo region of Venezuela, as well as families in the USA, who donated their blood and their time so that the researchers could study their genes and connect the dots. The 20-year Venezuela study was championed by Nancy Wexler, and when the gene was finally identified, the published paper had nearly sixty individual authors. Today, we have human clinical trials directed at the HD gene itself, with dozens of researchers and pharmaceutical companies working on numerous approaches to decrease levels of harmful huntingtin protein or alter huntingtin expression. This progress was made possible through extraordinary collaborative effort among researchers and families.   

What motivates someone to seek predictive genetic testing?  

Researchers at the University of British Columbia invite you to participate in an online survey that aims to estimate the demand for predictive testing among the HD community and how this might be affected by future clinical trial results. The goal of the survey is to help our healthcare system, healthcare providers, clinicians, genetic counselors, and others involved better prepare for a potential surge in predictive testing demand and to in turn improve the quality of care given to patients and families affected by HD. The survey is open to individuals 18 or older who are already affected by HD, individuals at risk for developing HD, and individuals related to someone affected by HD (spouse/partner or family member). To learn more and take the survey, click here. 

Novartis Announces positive long-term data for Zolgensma  

Zolgensma is a single-dose gene therapy that is being developed by Novartis for treatment of Spinal Muscular Atrophy (SMA) in children. This week, Novartis announced positive long-term safety data for the drug. To date, over 3,000 children with SMA have been treated with Zolgensma. Long-term follow-up studies have found that up to 7.5-years after dosing, kids treated with the drug have maintained, or, in a few cases, even improved upon the motor milestones they had achieved at the time they were dosed with the drug. The data also supports a strong risk-benefit profile after long-term use. In short, kids with SMA who were treated with Zolgensma had no safety issues and saw improvements in the course of their disease.  

Zolgensma is not a drug for people with HD, however, this is still good news for the HD community. This data demonstrates that long-term treatment with an AAV, a virus that researchers can manipulate to deliver a gene therapy, can be both a safe and effective way to alter the course of a neurological disease. This method is currently being studied for applications in HD, such as uniQure’s study of AMT-130, a one-time delivery gene therapy that is currently being tested in human trials. AskBio is also developing an AAV therapy for HD and is currently conducting a small trial in France. To read the full press release on Zolgensma, click here.