Neimann Pick Type C-1 Treatment

Parents Hugging Daughters with Neihmann Pick Disease

The Neimann Pick Type C-1 disease is a lethal and inherited disease against the body's metabolism for lipids and cholesterol. There is a new treatment that come out of the National Institutes of Health. There was a long detailed report of using model organisms of mice and then cars and it showed that the drug made of cyclodexetrins can slow the disease, prolong life, and minimize some of the symptoms of the condition. Now there is a competition between which company will be able to make human trials successful from Vtesse to the NIH and CTD Holdings.

"In mouse models of the disease, cyclodextrin administered peripherally delayed disease onset, reduced brain accumulation of fat, and lengthened life significantly, several published studies have found. In presentations this summer, CTD representatives reported anecdotal cases of neurological improvements- such as motor skills and speech- in children treated intravenously with the company's cyclodextrin on a compassionate use basis, including the Hempels' daughters. The company further notes that the IV delivery method may protect other organs affected by NPC."

The reasons why this disease is related to our class are based on two idea. The idea of using a model organism first is along the ethical ideas of genetics practice and medicinal practice of using a non-human organism first to model the possible human reactions and interactions. Along with this idea comes the idea of inheritance through families and all of the forms of Niemann Pick are autosomal recessive inheritance based.

"This means that both parents are carriers each carry 1 copy of the abnormal gene without having any signs of the disease themselves. When both parents are carriers, there is a 25% chance that their child will have the disease and a 50% chance that their child will be a carrier."

I think it is wonderful how medicinal competition and betterment of medicine and technology is pushing for a treatment for this inherited disease, but I am also wondering if there are any pre-zygotic treatments for conception that could prevent a child from being born with this disease. i have always been interested in genetic disease prevention and hopefully technology of current treatment will eventually develop to the pre-conception stage of the disease.