Wave Life Sciences is conducting two early safety studies of huntingtin-lowering therapies, called PRECISION-HD1 and PRECISION-HD2. In a business update this week, Wave announced that recruitment is fully completed for PRECISION-HD2 and that top-line clinical results are expected in late 2019. Wave’s therapies focus on lowering only harmful mutant huntingtin protein while leaving the normal form intact. They are delivered via a lumbar puncture, a needle in the back. The research community has high hopes that the therapy will be safe so that it can move into a longer, larger trial to test whether it can help with HD symptoms. PRECISION-HD1 is still recruiting at Canadian and European sites, and results are expected in early 2020.
Global Genes Podcast features HDSA Center of Excellence Social Worker
The Global Genes RAREcast is a podcast that highlights stories and interviews with doctors and patients who have experience with rare diseases. Their latest episode features Amber McCarthy, LMSW, a social worker and key member of the interdisciplinary team at the HDSA Center of Excellence at UT Health in Houston. She speaks about the value of expert multidisciplinary care and the important role of social workers and genetic counselors in guiding HD families. She also touches upon the promising clinical research studies that are underway at COEs all over the country. It’s a great listen and a good way to share the HD community’s strategies for tackling a complex and difficult disease.
This Week in HD History
When HD is passed down from generation to generation, the length of the CAG repeat can change. So for a parent with 42 CAGs, their child could also inherit 42 CAG – or they might have 43, or 50, or another number. In August of 1995, researchers published key findings about differences in the HD gene between parents and children, studying hundreds of families to understand how HD is passed down when it comes from either a mom or a dad. They found that large expansions, like an increase from 42 to 50 between generations, almost always occur when the HD-affected parent is the father. The number of CAG repeats a person has in their HD gene can influence the onset of their symptoms – this is very variable, but more CAG repeats can lead to an earlier onset. Understanding this aspect of HD inheritance has helped to better guide the diagnosis of JHD, which usually occurs when a child or adolescent has a long CAG repeat. If you want a deeper look, the original published article can be read here.
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