Rare Disease
Rare Disease
Tonix is identifying, researching, and developing new therapies which have the potential to address the unmet needs of people living with rare diseases, and which may qualify for Orphan Drug Designation by the FDA.
Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is recognized as the most common genetic cause of life-threatening childhood obesity and affects males and females with equal frequency and all races and ethnicities. Prader-Willi syndrome results from the absence of expression of a group of genes, specifically related to the MAGE (melanoma antigen) gene family on the Prader-Willi critical region (15q11–q13) on the paternally acquired chromosome. The hallmarks of PWS are lack of suckling in newborns and, in children and adolescents, severe hyperphagia – an overriding physiological drive to eat, leading to severe obesity and other complications associated with significant mortality. A systematic review of the morbidity and mortality as a consequence of hyperphagia in PWS found that the average age of death in PWS was 22.1 years1. Given the serious or life-threatening manifestations of these conditions, there is a critical need for effective treatments to decrease morbidity and mortality, improve quality of life, and increase life expectancy in people living with PWS.
1 Bellis SA, et al. Eur J Med Genet 2022;65(1)104379
