Our treatments would be the first of their kind. We are designing them to boost a cellular command center – called the Integrated Stress Response – that ensures healthy levels of proteins and protein structures. Research in this pathway has accelerated over the last several years as the Integrated Stress response has been implicated in a range of CNS diseases. Gene mutations, infection, and other biological stresses regularly cause protein imbalances. In healthy individuals and cells, these imbalances are corrected by this command center.
Unfortunately, excessive and on-going stress overwhelms this command center, destroying neurons and myelin, the insulation layer needed to maintain muscle function in the extremities and organs. It is believed this is a main contributor to many neuromuscular diseases. Our therapies were designed to keep the Integrated Stress Response operating to restore cellular balance and to prevent downstream effects that lead to disease.
Like others before us, we have shown promise in preclinical research but understand there remains a long and worthwhile journey ahead. We are passionate about our work and optimistic in the promise of our approach to ameliorate serious neuromuscular diseases. As we continue to develop new therapies, we are committed to maintaining open dialogue with people living with these conditions, their loved ones and advocates. While we cannot guarantee success, we want to assure you that we are committed to our goal of working to bring about new treatments.
Elif Ildem is training for the Paralympics in Japan in 2021. Since she started swimming as part of rehabilitation related to CMT, she has won several medals and competitions.