According to a story from The New York Times, it didn’t take long after Bertrand Might was born for his parents to realize that something was off. He had developmental delays, seizures, and there were never any tears when he cried, which threatened to make him go blind. It was only four years later that Dr. Matthew Might and his wife Cristina were able to pinpoint his problem with the help of doctors: he had NGLY1 deficiency, and extremely rare genetic disorder.
About NGLY1 Deficiency
NGLY1 deficiency is an extremely rare genetic disorder which has only been diagnosed in a smaller number of patients worldwide. As its name suggests, the disease is linked to mutations of the NGLY1 gene. Symptoms include absence of tears, developmental delay or intellectual disability (which can vary in severity), movement disorders, and elevated liver enzymes. The liver enzymes seem to stabilize over time. Some patients also report neuropathies, scoliosis, constipation, and sleep apnea. About half of patients also have seizures. NGLY1 deficiency is quite difficult to diagnose. Treatment is entirely symptomatic, as there is no cure; more effective treatments are in development. Less than 100 confirmed cases have been reported. To learn more about NGLY1 deficiency, click here.
A Fortunate Discovery
Remarkably, Matthew was able to discover that the over the counter antacid Prevacid was actually a useful treatment for Bertrand. Now, he is working with a drug company to develop a drug with a stronger effect. Matthew’s discovery is just one of several examples of researchers and others finding already available medicines that are effective for treating a rare disease and choosing to repurpose them. This approach can be particularly effective for rare diseases like NGLY1 deficiency, and it can help circumvent the lengthy and ponderous approval process that is necessary for brand new therapies.
More Work Lies Ahead
Matthew says that certain diseases, such as epilepies driven by ion channels, could be particularly treatable with already available drugs, as many medicines already interact with this mechanism, even if it is just a side effect. While getting a stronger treatment for his son is his most direct priority, Matthew ultimately hopes to help refine the drug development pipeline to make it more efficient and effective in a bid to get treatments on the market for as many rare diseases as possible.