According to a story from ir.stockpr.com, the biotechnology company Cyclo Therapeutics, Inc. (previously known as CTD Holdings) has recently thrown its support behind a Niemann-Pick Disease Type C newborn screening program in the form of grant funding. The screening program is being developed by The Firefly Fund, a nonprofit organization committed to supporting research and treatment for rare, neurodegenerative diseases. Cyclo is focused on the development of cyclodextrin based medications to treat disease.
About Niemann-Pick Disease Type C
Niemann-Pick disease type C is a form of lysosomal storage disease which is characterized by a deficiency not in an enzyme, but most typically in a type of transporter protein that prevents water soluble molecules from moving within a cell. It is caused by mutations of either the NPC1 or NPC2 gene. There is broad disparity in the severity and presentation of symptoms in the disease, making symptoms an unreliable method for diagnosis. They may appear in childhood or as late as a patient’s sixth decade of life. Such symptoms include spleen and/or liver enlargement, jaundice, severe depression, ataxia, epilepsy, difficulty speaking and swallowing, dystonia, poor muscle tone, bipolar disorder, microcephaly, progressive loss of hearing, progressive dementia, and psychosis. Most treatment is supportive, but there are some medicines that can delay disease progression and prolong life. Lifespan is connected to the onset of symptoms, with those with the earliest symptoms usually dying sooner. To learn more about this rare disease, click here.
Since June of 2017, The Firefly Fund has been working on an ambitious but important project: adding Niemann-Pick disease type C to the list of diseases that will be screened in newborns both on the federal and state level. At that time, the organization convened a national working group that included a multidisciplinary team of both industry and community stakeholders in order to work towards achieving this goal.
More recently The Firefly Fund started a pilot study in New York state that will expand newborn screening to thirteen lysosomal storage diseases including Niemann-Pick disease type C. This program is expected to run for five years and will provide a model for how new newborn screenings can be implemented across the country.
To learn more about the activities of The Firefly Fund, click here.