Multiple Sulfatase Deficiency (MSD) is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. It has autosomal recessive inheritance. Its progression usually goes along with a loss of mental and motor abilities, reduced body size, progressive vision loss, lowered heart rate, and a shortened life expectancy. This very rare disease is caused by loss-of-function mutations in a gene, SUMF1. For patients, there is no cure available yet.
In this video, Dr. Maximiliano Presa from The Jackson Laboratory presents a study using sumf1-knockout mice, a mouse model for Multiple Sulfatase Deficiency (MSD). They applied gene replacement therapy by intrathecal injection with AAV9 (Adeno-associated virus), a viral vector for gene therapy, and measured the disease progression (lifespan, growth, and some behavioral outcomes), including the progression of visual abilities.
Already the first infusion was able to improve the lifespan of the mice and brought a 60% increased survival rate – more than one year after the injection. More than that: While, after 9 months, the untreated KO mice showed an increasing vision loss compared to the Wildtypes, the treated KO mice had a much better vision threshold. Three months later the result became even clearer, showing that to the treatment rescued the vision phenotype to the level of WT mice. Also, a better cardiac function could be detected through an electro cardio analysis. The effects were dose dependent. These results raise hope for a potential benefit for pediatric subjects and support a further clinical study design.
Interested in further research of The Jackson Laboratory? Then please have a look at our Journal Club with Dr. Zoe Bichler and Dr. Maximiliano Presa.
Your Striatech Team