It has however, been approved for use with another disease. Consequently, Zavesca is being taken by a number of NPC patients off label, depending of whether or not their insurance companies will cover the cost as it is very expensive.
Long term two year animal toxicity studies of miglustat have recently been reported. Microscopic examination of the large intestine showed inflammatory lesions. Rats given the same doses of miglustat for two years did not develop such changes. These rats normally have a much higher incidence of Leydig cell tumors than humans. There was no increase in tumors in other organs.
We understand that many families will be concerned by these reports, and wish to place these in perspective:. Marc C. Niemann-Pick Type C NPC disease is a genetic, neurodegenerative disorder which causes progressive deterioration of the nervous system. It usually affects children by interfering with their ability to metabolize cholesterol. Adult onset may also occur. Large amounts of cholesterol accumulate within the liver, spleen, and brain. This metabolic disorder leads to a series of neurological problems that are ultimately fatal…until a treatment is found.
In medical researchers funded by the Parseghian Foundation identified the location of a gene called NPC1 that is abnormal in patients with Niemann-Pick Type C disease. The NPC1 gene is on chromosome 18 and is normally present in two copies in each cell of the body.
However, alterations or mutations in this gene cause about 95 percent of cases of NPC disease. Researchers suspect a second gene, called NPC2, may be responsible. Niemann-Pick Type C disease is known as an autosomal recessive inherited condition. These parents are called carriers, or heterozygotes, and exhibit no signs or symptoms of the disease. Affected children inherit two non-functional NP-C genes from their parents. In each pregnancy of a carrier couple, there is a one in four 25 percent chance that they will both pass their non-functional NPC genes to a child who would then be affected.
There is a one in two 50 percent chance that only one of them would pass a non-functional gene. The child would then be a carrier like the parents. There is a 25 percent chance that both functional genes would be passed and the child would be neither a carrier nor affected with the disease.
Among the other symptoms children may experience are: Liver failure without neurologic symptoms Jaundice at birth Early development of neurological problems Low muscle tone Delayed motor development beginning before age 2 Progressive liver failure starting in infancy Early lung involvement without neurologic disease Seizures Late occurring cases typically have a less dramatic onset of symptoms.
To learn more about testing, please contact your physician or: Dr. Marc Patterson, Mayo Clinic Dr. Elizabeth Berry-Kravis, Rush University. Test results are also made available on Children's patient portal, myCHP, which is provided at no cost to patients, parents, and guardians. At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.
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For general information and inquiries , please call To make an appointment , please call from 7 a. Monday through Friday. Share a comment, compliment or concern. Tell us what you think about our website - send an email to feedback chp. With m y CHP, you can request appointments, review test results, and more.
To pay your bill online, please visit UPMC's online bill payment system. Support the hospital by making a donation online , joining our Heroes in Healing monthly donor program , or visiting our site to learn about the other ways you can give back. Our Sites. Center for Rare Disease Therapy. Children with Niemann-Pick disease type C NPC lack a protein that the body needs to break down fats and cholesterol within cells. What are the symptoms of Niemann-Pick disease type C?
Symptoms may include: enlarged liver and spleen hepatosplenomegaly difficulty coordinating movement ataxia abnormal eye movements vertical supranuclear gaze palsy poor muscle tone hypotonia severe liver disease frequent respiratory infections difficulty with speech difficulty with swallowing and feeding loss of cognitive skills seizures Treatment for Niemann-Pick disease type C There are currently no approved therapies to reverse the effects of Niemann-Pick disease type C.
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