Milas Miracle Foundation Inc

Basic science research - to date, the foundation has funded three (4) basic science research projects for batten disease in the us, europe and australia. By supporting scientists working to crack the cln7 gene (as well as other variants of batten disease) through meetings with researchers and physicians, and grant funding to labs working on biomarker discovery and data collection, we are learning more about this devastating childhood condition with the hope of improving future treatment options. Early research projects funded by the foundation have led to findings and results published in the journal of clinical investigation, which demonstrate that an "aav9/mfsd8 gene therapy is effective in pre-clinical models of neuronal ceroid lipofuscinosis type 7 disease". Additionally, donated tissue samples, funding, and patient-partnered research support provided by the foundation led to the creation of the first-ever pediatric cell atlas of batten pathobiology and therapeutic response. The foundation's work on the cell atlas is still ongoing and subsequently led to the launch of the "little legacies" brain donation program which is being overseen by the foundation in partnership with boston children's hospital, the university of maryland, the brain donor project and the chan zuckerberg initiative.

Clinical trials & programs - to date, the foundation has funded two (2) clinical trials and one (1) clinical program for children with batten disease: 1.) an antisense oligonucleotide (aso) clinical trial - the foundation partnered with boston children's hospital to fund, develop, and administer milasen, the first-ever individualized medicine designed for one person. Led by the pioneering scientist/neurologist, dr. Timothy yu, this aso treatment, which mila received for three years, targeted her individual disease-causing mutation and proved that novel treatments similar to this could be developed and deployed to treat children affected by a number of other rare genetic disorders. 2.) a cln7 gene therapy trial - together, with renowned gene therapist dr. Steven gray, the foundation began the work on a novel gene therapy direct to the brain for children with mila's variant of batten disease, cln7. This promising approach replaces the broken gene with he correct one in a one-time shot into the cerebrospinal fluid. The trial was developed in partnership with ut southwestern, aashi's hope and batten hope, and launched in spring 2021. 3.) neurodegenerative disease clinic - the foundation helped fund and launch a batten & neurological disease clinic at children's hospital colorado in 2020. The purpose of establishing this center of excellence was to provide families with children affected by neurodegenerative diseases a place to receive specialized multidisciplinary care all in one visit during a single appointment conducted annually and/or semi-annually, based on the child's personalized care plan. Simultaneously, research data is collected to help better understand these diseases and eventually inform future treatment paths.