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What is Epalrestat?
Epalrestat is a medication used for the treatment of diabetes-related manifestations. Epalrestat inhibits or reduces secondary complications induced by diabetes and prevents nerve deterioration (diabetic neuropathy). It relieves numbness/pain of the hands, feet and legs, which are the commonly experienced complications of diabetes.
How can epalrestat help people living with PMM2-CDG?
Epalrestat was tried in a worm model of PMM2-CDG and also in patients' cells with good results. This prompted a one-patient trial to test safety and effectiveness. Epalrestat was well tolerated and was able to improve the transferrin glycosylation profile, as well as weight, appetite and absorption. Disease progression was also improved with epalrestat therapy. For more information access a poster here. A new clinical trial with a higher number of patients is being set-up (NCT04925960). More recently, a second patient has also been included in the trial.
Publications in CDG are constantly growing. We have selected articles of special interest for you, see below. Not all are open access, thus if you wish to access the full information, please contact us at https://worldcdg.org/contact
Epalrestat is a clear example of the power of parents-led therapeutic research. Maggie’s Cure LLC was started by the parents of a child with a rare genetic disease called PMM2-CDG. In 2017 Maggie’s Cure 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. Perlara’s approach was 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. Continue reading at https://www.maggiespearl.co/about
Watch the webinar given by Ethan Perlstein,founder of Perlara, at CDRC 2021 Annual Meeting: Individualized drug repurposing for the long tail of genetic diseases:
