New England Regional Genetics Group

New Study of Nieman Pick Type C

nieman pick Boston Children’s Hospital is actively recruiting subjects with Neimann Pick Type C for a clinical trial. Please see the trial description at https://clinicaltrials.gov/ct2/show/NCT02534844?term=cyclodextrin&rank=6 and contact Dr. Olaf Bodamer (contact info in the protocol), or study coordinator Sophia Kon at (617) 919-1399 or sophia.kon@childrens.harvard.edu if you are interested in participating.

Click here for the IRB-approved recruitment letter

Sophia Kon
Research Coordinator
Boston Childrens Hospital
1 Autumn St. Rm 526
Boston, MA 02215
(617) 919-1399 (phone)
(617) 730-4856 (fax)

Niemann-Pick Disease type C (NPC)

Niemann Pick Disease type C (NPC) is an autosomal recessive lipidosis that is characterized by lysosomal storage of cholesterol and glycosphingolipids. In normal mammalian cells, low-density lipoprotein (LDL) is bound and internalized by cell surface receptors and is hydrolyzed in the endocytic compartment. The cholesterol that is released is transported to the cell surface and endoplasmic reticulum.  Source: Tufts University Medical School.