Adam Recke's classmates in the Bethlehem Area School
District have never focused on his disease.
The senior from Bethlehem Township was diagnosed with a rare
neurodegenerative disorder at age 6 that for many years was not obvious at
first glance.
Today its toll is more evident. But that hasn't stopped
Recke from making friends, cheering on Philly sports teams, going to dances,
acting in plays and just being a teenager.
On Saturday night, he took it a step farther. Thanks to his
classmates, the Freedom High School senior was able to add the title of
homecoming king to his list of accomplishments.
He learned of his win during Freedom's homecoming dance,
where he was crowned along with queen Shalyn Banas.
Recke has Type-C Niemann Pick Disease, a rare terminal
disease that afflicts only 500 people around the world and has no cure. It's
also known as childhood Alzheimer's.
He cannot metabolize cholesterol and other lipids in his
body, which causes them to build up in his liver, spleen and brain at toxic
levels that destroy the cells controlling mobility and cognition.
Recke is participating in a two-year clinical trial of a
drug that's been shown to help reverse the decline of those with his disease.
His father, Sean Recke, and Lehigh Valley Health Network
successfully petitioned for the network to become a study site, eliminating the
twice-a-month commute to Maryland the family endured during the first phase of
the trial.
http://www.lehighvalleylive.com/bethlehem/index.ssf/2016/09/freedom_high_school_crowns_hom.html
This study evaluates the efficacy and safety of 2-hydroxypropyl-β-cyclodextrin (VTS-270) in patients with neurologic manifestations of Niemann-Pick Type C1 (NPC1) Disease. Approximately two-thirds of patients will receive the study drug, 2-hydroxypropyl-β-cyclodextrin (HP-β-CD), while the remaining study participants will receive sham control.
ReplyDeletehttps://clinicaltrials.gov/ct2/show/NCT02534844?term=niemann-pick+c&rank=12
Motoyama K, Nishiyama R, Maeda Y, Higashi T, Kawaguchi Y, Futaki S, Ishitsuka Y, Kondo Y, Irie T, Era T, Arima H. Cholesterol-lowering Effect of Octaarginine-appended β-Cyclodextrin in Npc1-trap-CHO Cells. Biol Pharm Bull.2016 Sep 6. [Epub ahead of print]
ReplyDeleteAbstract
Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal storage disorder, which is an inherited disease characterized by the accumulation of unesterified cholesterol in endolysosomes. Recently, 2-hydroxypropyl-β-cyclodextrin (HP-β-CyD) has been used for the treatment of NPC, and ameliorated a hepatosplenomegaly in the patients. However, to obtain the treatment efficacy, a high dose of HP-β-CyD was necessary. Therefore, the decrease in dose by using active intracellular delivery system of β-CyD to NPC cells is expected. In this study, to efficiently deliver β-CyD to NPC-like cells, we newly synthesized octaarginine (R8)-appended β-CyD with a spacer of γ-aminobutyric acid (R8-β-CyD) and evaluated its cytotoxicity, intracellular distribution, endocytosis pathway and cholesterol-lowering effect in Npc1-trap-CHO cells, cholesterol-accumulated cells through the impairment of NPC1 function. R8-β-CyD did not show cytotoxicity in the cells. In addition, Alexa568-labeled R8-β-CyD was actively internalized into Npc1-trap-CHO cells, possibly through micropinocytosis. Notably, R8-β-CyD significantly decreased intracellular cholesterol content compared with HP-β-CyD. These results suggest that R8-β-CyD may be a promising therapeutic agent for ameliorating cholesterol accumulation in NPC.