According to a story on PRNewswire, the biopharmaceutical company, Enzyvant, kicked off their Farber Disease Natural History Study in October.
Acid ceramidase deficiency, also known as Farber disease, is an obscure lysosomal storage illness caused by a genetic mutation. The deficiency results in the build up of inflammatory sphingolipid ceramide. This leads to a variety of symptoms, such as joint contractures, arthritis, subcutaneous nodules, and a weak, hoarse voice. The disease is detected quite early in life, typically within four months after birth, and most do not survive beyond two years. You can learn more about Farber disease by clicking here.
The goal of this study is to gain a more complete understanding of the disease’s natural history and the spectrum of symptoms and variations in how the disease manifests. This can only be done by analyzing and collection information from people who have been diagnosed. Anyone who is has the disease is eligible to participate, and the company anticipates having around forty study participants. Enzyvant also plans to use information from deceased patients as well on order to analyze their condition retrospectively.
Enzyvant is also conducting the study to help further the development of RVT-801, which is intended to act as a replacement therapy so that someone with the disease can maintain regular levels of acid ceramidase. At this juncture, the company is conducting pre-clinical studies with the treatment, and hopes to begin clinical trials sometime in 2018. There is currently no cure for the deficiency, but the new drug could help solve this issue. Current treatments are only meant to be supportive and to reduce the severity of symptoms.
The fact that a study of this nature is only being conducted now and not earlier is a testament to just how rare the condition is, with less than a hundred cases being reported worldwide.
This reality reflects just one of many great challenges of treating and fighting against rare disease. In a world with billions of people, more common ailments are inevitably given priority for the development of cures, treatments and medications. Unfortunately, it is also difficult for these rare illnesses to be massive sources of revenue for drug companies, further reducing the likelihood for them to be treated more urgently.
What do you think about the challenges of treating rare diseases such as acid ceramidase deficiency? Share your stories, thoughts, and hopes, with the Patient Worthy community!
