The firm Maggies Cure LLC was launched by the parents of a child diagnosed with a rare genetic disease: PMM2-CDG or Congenital Disorder of Glycosylation Type 1a - a condition known to exist in only some1,000 people worldwide. Committed to improving the quality of life of children with PMM2-CDG. principals of the firm began work with Ethan Perlstein, founder of Perlara, the first biotech public-benefit corporation focused on partnering with families to find treatments for rare genetic diseases. Perlaras approach has been to gather insights from under-used yeast, worm and fruit fly models as well as skin cells from rare disease patients to point researchers toward repurposed drugs that would treat and improve the lives of PMM2-CDG patients. The models were built and used for high-throughput screening of known drugs. A Japanese drug - epalrestat used for decases n Asia to treat nerve damage in adults with diabetes showed promise. The fibroblasts -- cells taken from a tissue sample from a patient with PMM2-CDGs forearm -- were tested with epalrestat and PMM2 enzymatic activity increased. Compassionate treatment with epalrestat in one patient with PMM2-CDG. FDA approval was obtained to start a single-patient compassionate use investigational new drug (IND) trial and treatment began in January 2020. Improvements were noted in gross motor, stability and strength and laboratory results. Committed to improving the quality of life of children with PMM2-CDG. Maggies Pearl, LLC (MP) was formed In August 2020 as a joint venture between Perlara and Maggies Cure and the Mayo Clinic. In December 2021 the partnering players received permission from the Food and Drug Administration to begin a Phase III clinical trial in 40 patients with PMM2-CDG.
