Ssadh Association Inc

Gene replacement therapy at boston children's hospital our goal is to accelerate development of ssadh gene therapy that will be directly translatable to a clinical trial. In our previous work, funded in part by the ssadh association, we successfully developed a novel inducible mouse model, aldh5a1lox-stop mice, which enabled proof-of-concept studies to systematically investigate three key topics, as needed to de-risk an eventual clinical product for ssadh restoration: 1) rate of restoration whether restoring ssadh too fast might provoke seizures or injure the brain, 2) age of restoration whether ssadh restoration at symptomatic stage is therapeutically effective, and 3) cell specificity of restoration targets whether ssadh restoration limiting to certain brain cell types such as inhibitory interneurons is sufficient for symptomatic rescue.

Gene expression analysis at washington state university the study will complement and expand gene expression analyses performed 3 years ago by the wsu team using samples collected from participants in the natural history study (nhs) during their 1st visit to boston children's hospital. These earlier analyses, which included a limited number of samples collected from non-affected individuals, showed statistically significant differences in master clock gene expression between patients and healthy individuals, and uncovered unreported relationships between the expression of these genes, the expression of genes coding for gaba metabolizing genes, and plasma gaba concentrations.

Natural history study at boston children's hospital the nhs grant from the nih includes 25 us patients to visit boston children's hospital for testing. Within the grant there is $1,500 for each patient making the trip to cover travel and lodging. However, the internal review board at boston children's hospital requested that additional funding should be made available to cover travel costs for patients and families that exceed this amount to maximize the participation in the study.