According to a story from Market Screener, the pharmaceutical company Retrotope has recently released data that indicates that the company’s experimental product RT001 is capable of halting disease progression for patients with the rare disorder infantile neuroaxonal dystrophy. This data represents a potential breakthrough for the treatment of this disease, which currently has no available medications.
About Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a rare genetic disorder that affects the nervous system. It is characterized by the loss of acquired motor and intellectual skills as well as developmental delays. In the majority of cases, infantile neuroaxonal dystrophy is caused by mutations that affect the PLA2G6 gene. Most patients do not have symptoms at birth, and the first signs tend to appear between the ages of eighteen months and six years. There is also a late onset form that progresses more slowly. Symptoms include seizures, poor muscle strength and tone, muscle spasms, pneuomina, rapid eye movements, loss of cognitive function, blindness, deafness, loss of movement, and difficulty breathing and feeding. There are no treatments available that address the underlying mechanism of the disorder, so treatment is focused primarily on reducing the severity of symptoms. To learn more about infantile neuroaxonal dystrophy, click here.
Research So Far
The treatment of patients with infantile neuroaxonal dystrophy was part of an expanded access trail from Retrotope. Only two patients with the disorder were treated, so larger scale study of treatment with RT001 is warranted. One patient received the drug for a year and the other was treated with RT001 for six months. The drug appears to be the first that has been able to successfully halt the progression of the disorder.
About RT001
RT001 is an innovative, first in class drug. It is classified as a deuterated polyunsaturated fatty acid (D-PUFA). This treatment is introduced to the cellular and mitochondrial membranes and helps to stabilize them. This serves to protect PUFAs against damage from free radicals, which have been implicated in the death of cells in a number of degenerative genetic diseases.
Unsurprisingly, RT001 has already received Orphan Drug designation from the FDA as a treatment for PLA2G6 associated neurodegeneration, a classification which includes infantile neuroaxonal dystrophy, as PLA2G6 is the gene which mutates in order to cause the disorder. The drug is being tested against a variety of other neurodegenerative disorders as well.
