GLENOLDEN, PA —The Charcot–Marie–Tooth Association (CMTA) and Applied Therapeutics announced a collaboration to investigate a potential therapy for a newly discovered type of the disease caused by a deficiency of the SORD gene.
The primary goal of the collaboration is to help identify patients who may be eligible to participate in upcoming clinical trials and provide insight into clinical trial planning through the CMTA’s Patients as Partners in Research initiative. Through this collaboration, patients will be able to get free SORD testing by having a nurse come to their home or through their doctor’s office, and the patient perspective will be shared to help shape trials to come.
A team led by Dr. Stephan Züchner at the University of Miami discovered SORD. Züchner’s team, including Drs. Andrea Cortese, Grace Zhai, Adriana Rebelo and many others, found that mutations in the SORD gene cause an axonal form of CMT that is recessive. The newly discovered type is caused by a mutated SORD (sorbitol dehydrogenase) gene that raises sorbitol levels so high they cause nerve damage. Researchers found that treating fruit flies with a type of drug called an aldose reductase inhibitor, reduced their high levels of sorbitol to near normal. It is estimated that at least 3,000 –4,000 people in the United States and 4,000 patients in Europe, have this type of CMT, making it the most common recessive form of the disease.
AT-007 is an oral aldose reductase inhibitor in development for SORD. Because the drug is still in clinical trials, it’s called an “investigational drug.” AT-007 blocks the enzyme that precedes sorbitol dehydrogenase to prevent sorbitol from being formed in the body. In a recent pilot study in 8 SORD patients, AT-007 reduced sorbitol levels by 66% in the blood, with a range of individual patient reductions of 54%-75%. AT-007 has also been studied in healthy volunteers as well as adults and children with another rare disease called Galactosemia. Applied Therapeutics is planning to initiate a larger registrational study in SORD patients with sites in the US and Europe towards the end of this year. The hope is that the registrational trial will support approval of the first drug to treat SORD.
The collaboration with Applied Therapeutics is part of the CMTA’s Strategy to Accelerate Research (STAR), which connects leading CMT clinicians and researchers with pharmaceutical partners committed to developing treatments and a cure for CMT. Strategic alliances with pharmaceutical partners like Applied Therapeutics support drug development efforts to deliver therapies to CMT patients.
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