This week we’ve come to an agreement with Dr. Joanne Kurtzberg (director of the Marcus Center for Cellular Cures and long time advocate for leukodystrophies) to begin planning and designing a trial to expand a potential cellular therapy for AGS. Some in our community may already be aware that one of Dr. Kurtzberg’s AGS patients has been the subject of a single patient Investigational New Drug (IND) for the use of cord blood derived Mesenchymal Stromal Cells as a downstream, anti-inflammatory therapy. Measuring biomarker and clinical improvements has been difficult in AGS, but the parent and provider reported experiences within this IND have been encouraging enough to pursue it further. The AGSAA will work with Dr. Kurtzberg and others this year to explore yet another opportunity!

In rare diseases, parents, families, and community members often have to take the initiative to explore opportunities for developing therapies. Sometimes we find ourselves in the right place at the right time, but the complexities of developing treatments and clinical trials can be daunting. In addition to deep fundraising, we’re often involved in the trial design and recruitment processes. The community’s input is critical to developing relevant outcomes and measures that could lead to a successful trial. As we explore new therapeutic options in Aicardi-Goutieres Syndrome, we keep returning to these difficulties. We at the AGSAA expect to be working closely this year with academia, industry, and our community to design the best possible clinical trials with the highest chance of success; and we need our families in the AGS Patient Registry to make it happen.