Frequently Asked Questions - Homepage
Questions for the Family
Q: At What Age Were Your Children Diagnosed?
A: Our official diagnosis came on November 7th 2007, the devastating news delivered to us by a visiting specialist from OHSU, after a brief examination of Peyton and Kayla. Peyton was 10 years old, Kayla was 7. This diagnosis was finally arrived at after over 7 years of on and off testing. The doctors first noticed an enlarged spleen in Kayla as an infant, and then found the same in Peyton. Many tests were run, and a few years later a thorough examination at OHSU with several doctors still could not find a reason for the enlarged spleen. It was not until Peyton was 8 years old that the first neurological symptoms began to occur. It was another year and half, and several doctors, before the official diagnosis was made.
Q: Are all children in the same family affected by Niemann-Pick disease?
For every child two "carriers" have, there is a one in four chance that the child will be affected. The NPC1 gene is located on chromosome 18, and each parent contributes one of their genes to their child. The carriers have 1 "good" gene, and 1 "mutated" gene. So, if each passes on their "good" gene, the child is non-affected. If one of the parents pass on a "good" gene, and one passes on a "bad" gene, then the child would become a carrier of the disease, like the parents, but would remain unaffected by the disease. If both parents pass on the "bad" gene, then the child would be affected by Niemann-Pick Type C. In our case, our 2 older children are both affected, and our youngest is non-affected.
Q: How rare is Niemann Pick Type C disease?
The official statistic is that Niemann-Pick Type C strikes an estimated 1 in 150,000 people. Currently, there are approximately 500 known cases worldwide, and just over 100 in the United States. However, the number is thought to be at least 1500 or more worldwide, because the disease is so hard to diagnose, and so often gets MIS-diagnosed.
With over 6.5 Billion people in the world now, that 1:150,000 estimate seems to be more like 1 in 2 or 3 Million that have the disease. Either way, it is extremely rare to say the least.
Q: Is There Any Cure?
A: Currently, there is no cure for Niemann-Pick Type C. There is only one therapy available, with an off-label drug called Zavesca. This drug does not stop the disease, but has been shown to help slow the progression of the disease by a little bit. There are many other compounds that are currently being tested to see if they show help in slowing the progression of the disease as well. There are also a couple of different therapies being explored that may actually help a lot more. The most promising of these is called "chaperone therapy", which is being used in other diseases, and researchers are trying to see if it will work in NPC also. This works by finding a "chaperone" chemical, to help take the cholesterol out of the cells.
Q: What is the Science of NPC Disease?
A: NPC is caused by too much cholesterol accumulating in the cells, which causes them to die off prematurely, especially neurons. NPC1 is a protein inside the cell. It's job is to grab on to the cholesterol inside the cell, and move it outside. But, in Niemann-Pick Disease, this protein is "mis-folded", so it can't do it's job.
Q: What is Zavesca, and Does Insurance Cover the Cost of the Drug?
The most promising drug available to slow the progression of the disease and improve eye movement, swallowing, and other symptoms is Miglustat, commonly known as Zavesca. The 12 month trial documents that this drug helps to improve symptoms, but is not a cure. Zavesca may allow us to "buy time", so our children may participate in future trials, and potential therapies.
(For the 12 month trial results, click here: 12 Month Trial Results on Miglustat)
Unfortunately, Zavesca is a new drug, and not yet approved by the FDA for use in the USA. In January, 2009, it was approved in Europe. The cost for one 100 mg pill is $100. Peyton and Kayla are on three 100 mg pills each day, which is over $9,000 per month for one child. Thankfully, our insurance has approved coverage of this drug for one year, and will review it on a year by year basis.
Q: What is Niemann Pick Type C (NPC)?
Niemann-Pick Type C disease is an autosomal recessive disorder affecting lipid metabolism (the breakdown and use of fats and cholesterol in the body), in a way which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
Type C is characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, neuro-degeneration, increased muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. There are currently only about 500 known cases worldwide.
Q: What is SOAR?
Niemann-Pick type C (NPC) disease is a rare, progressive neurodegenerative disorder. Patients with NPC disease typically present in early childhood with difficulty walking and progressive impairment of motor and intellectual function, and usually die in adolescence. There are currently no FDA-approved therapies for this disorder. Major barriers to the development of more effective treatments for NPC have been its rare disease status, which has not attracted significant investment from the pharmaceutical industry, and the lack of simple blood tests to evaluate the effectiveness of therapy in clinical trials.
To accelerate the development of effective therapies for NPC disease, the Support Of Accelerated Research (SOAR)-NPC Collaborative was established with funding from family organizations in 2008. SOAR-NPC is a highly interactive group and represents the only consortium in the world committed to developing new therapies for NPC disease. Building upon recent advances in our understanding of the biology of this disease, the goal of SOAR-NPC is to identify drugs with potential for modifying the course of the disease, and to evaluate these agents alone or in combination in animal models of disease and in human clinical trials. In parallel, human samples obtained through a study of NPC patients sponsored by the National Institutes of Health (NIH) are being used to discover new blood tests that will help evaluation of drugs in clinical trials. Development of new tests for NPC disease will facilitate early detection of disease, potentially through newborn screening programs, and allow early treatment in NPC subjects, even before the first signs of disease.
A major goal of SOAR-NPC scientists is to screen existing drugs that have been developed for other disorders for activity in treating NPC disease. For these studies, the drugs are being tested in mouse models of NPC disease. The NPC mouse models accurately model human NPC disease and provide a rapid way to assess the potential of drugs to provide either functional benefits (e.g., improved neurological symptoms) or to increase lifespan. To date, nearly two dozen compounds have been tested, or are in the process of being tested, in the SOAR-NPC laboratories. Drug testing in SOAR-NPC laboratories have included the only compound currently approved for treatment of NPC (i.e., miglustat), Trappsol (a cyclodextrin compound) recently given orphan drug status and in currently being administered to two NPC patients on a compassionate use basis, and N-acetyl-cysteine, which is being studied in a trial at the NIH.
Screening for New Drugs
In a complementary approach, SOAR-NPC scientists seek to discover new drugs by screening collections or “libraries” with hundreds of thousands of unique chemicals. Work performed in SOAR-NPC laboratories, and by our collaborators at the NIH, have already identified dozens of chemicals, several of which are being tested in the NPC mice models. In addition, new drug screens are being planned that address specific aspects of the disease process. With the help to the newly-established Therapeutics for Rare and Neglected Disease (TRND) program at the NIH, it is anticipated that this strategy will lead to translation of our basic research into therapies to be tested in clinical trials at the NIH.
Discovery of New Tests for NPC Disease
One of the most pressing needs for the NPC community is to discover new tests or “disease markers”. The lack of a simple blood test for NPC results in significant delays in achieving a diagnosis (>4 years) in young children with NPC. In collaboration with investigators at the NIH SOAR-NPC laboratories have developed a blood test that is specific for NPC disease. The ability of the test to accurately distinguish patients with NPC disease is being tested in multicenter trials involving patients from the U.S., Europe and South America. Based on this research, SOAR-NPC investigators are working with Children’s Hospital in St. Louis to develop a clinical laboratory test for NPC that will be available to physicians world-wide. SOAR-NPC laboratories are also working in collaboration with the NIH and family groups to identify disease markers that correlate with the progression of NPC disease. Such markers are essential to evaluate the effectiveness of new drugs in clinical trials.
Collaboration for a cureSOAR-NPC was established as a unique partnership between NPC family groups and the scientific community. This partnership has fostered unprecedented cooperation among scientists in the field and prompted NIH to make significant investments in NPC research. These efforts have already led to new scientific advances, and we are confident that this research will accelerate the introduction of new and effective therapies for NPC disease. Moreover, we expect that the success of SOAR-NPC will promote this type of partnership as a model for addressing the unmet clinical needs of other rare diseases.