Luckily for future holders of Niemann-Pick Disease Type C (or NPC) in their hereditary makeup, the National Niemann-Pick Disease Foundation (NNPDF) is poised to kick this fatal genetic mutant down in its own path. And, the NNPDF has a lot of help…
What is Niemann-Pick Disease?
Niemann-Pick Disease, caused by genetic mutations, is one of many lysosomal storage diseases affecting metabolism. The most common types — Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick Disease Type C (NPC) — affect the population indiscriminately. A higher incidence happens to occur in the following populations: the Ashkenazi Jewish population, French Canadian population of Nova Scotia, Maghreb region (Tunisia, Morocco, and Algeria) of North Africa, and the Spanish-American population of southern New Mexico and Colorado.
Niemann-Pick Disease Type C (NPC)
The National Niemann-Pick Disease Foundation (NNPDF) is on a quest to find a cure for all strains of Niemann-Pick Disease. However, its primary target has been Niemann-Pick Type C or NPC for many reasons.
Niemann-Pick Type C (NPC) is different from Type A or B (ASMD). Patients with NPC are unable to metabolize any cholesterol or other lipids properly. As a result, excessive amounts of cholesterol accumulate within the patient’s liver, spleen, and even the brain.
Furthermore, NPC is always fatal. Children with Niemann-Pick Type C usually die before 20 year of age (many do not make it to age 10). When the onset of symptoms comes later in life, it is extremely rare for anyone with NPC to reach age 40. Oftentimes, the disease can also be misdiagnosed as a learning disability, due to the symptoms it causes, such as mild retardation, “clumsiness,” and the delayed development of fine motor skills. As such, it is common for diagnosis to escape families and physicians for many years.
The Quest to Find a Cure for NPD
The NNPDF supports and promotes research with the goal of finding treatments and a cure. It also remains a hub for support for individuals and families affected by NPD. Ultimately, its vision is to create a world where NPD can no longer threaten the prospect of a full and productive life for patients and their loved ones.
As reported by The Wall Street Journal, not only are the NNPDF’s activist efforts appreciated, but they’re heavily supported by not one, but three companies, ready for a round of clinical trials meant to develop treatment and therapy for NPC. This all sounds good and dandy, but one issue remains: Can this medical research community support more than one trial at a time, even with such welcomed support?
Niemann-Pick Type C Could Be Too Rare
As luck would have it, Niemann-Pick Type C or NPC is a rare disease. Its rareness makes it difficult to find an appropriate number of afflicted patients in order to test and demonstrate results. In fact, the number of patients with Niemann-Pick Type C is approximately 500 all around the world. Since the pool of patients with NPC is (thankfully?) small, pharmacists and doctors say the results may not be reliable.
“This is a critical juncture for our community,” said Nadine Hill, executive director of the National Niemann-Pick Disease Foundation. “To lose out on having an approved treatment is our worst-case scenario.”
This is the outcome the community is trying to avoid. Scientists, doctors, and family are worried that there will not be a trial with the numbers to get a drug approved by the Food and Drug Administration (FDA) for either treatment nor a possible cure. The FDA shared that 17 of the 41 new drugs it approved in 2014 for rare diseases.
Even if the desired number of patients might be reached, some are reluctant to participate in the trials as they can require heavy travel and time off from work or school. This makes activism, funding, support by and for the National Niemann-Pick Disease Foundation (NNPDF) crucial.
