View clinical trials related to Niemann-Pick Diseases.
Filter by:This is a phase II randomized controlled study of miglustat in adult and juvenile patients with Niemann-Pick Type C disease. Up to 42 patients will be randomised in a 2:1 ratio to either treatment with miglustat or to a non-treatment group. Both groups will follow an identical visit schedule.
This study is done in conjunction with a trial, conducted at Columbia University College of Physicians and Surgeons in New York and the Royal Manchester Children's Hospital in England, to examine the effectiveness of a new drug called OGT 918 for treating Niemann-Pick Type C (NPC) disease. Patients with this genetic disorder do not transport lipids (fatty substances) in their cells, resulting in problems of the liver, spleen and brain. An early sign of NPC is a reduced ability to move the eyes rapidly up and down or from side to side. These voluntary eye movements are called saccades. Patients in the OGT 918 trial who participate in this sub-study will have their saccadic eye movements measured to see if improvement occurs with OGT 918 treatment. Patients with Niemann-Pick Type C disease 12 years of age and older who are enrolled in the OGT 918 trial described above may be eligible for this study. Participants will have both vertical (up and down) and horizontal (side to side) saccadic eye movements measured at two time points before starting treatment with OGT 918 and after 12 months of treatment. For the test, patients sit in a chair with their head positioned as for a regular eye examination (steadied by a chin cup and headrest) and follow with their eyes a series of lights or laser spots moving on a screen at a distance of 1 meter (3 feet). During the test, patients wear either special recording glasses, infrared goggles, or special contact lenses for measuring eye movements. A full eye evaluation lasts about 1 hour, and each eye is evaluated twice. The evaluations are separated in time by at least an hour, and possibly a day.
The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for an inherited metabolic storage disease.
The main source of energy for the brain comes from a combination of oxygen and glucose (sugar). For brain cells to function normally they must receive a constant supply of these nutrients. As areas of the brain become more active blood flow into and out of these areas increase. In addition to oxygen and glucose, the brain uses chemical compounds known as phospholipids. These phospholipids make up the covering of nerve cells that assist in the transfer of information from cell to cell. Without phospholipids brain cell activity may become abnormal and cause problems in the nervous system. Certain diseases like Alzheimer's disease and brain tumors can affect blood flow to the brain and change the way the brain metabolizes phospholipids. In addition to diseases, changes in the brain occur with normal healthy aging. This study is designed to use PET scan to measure changes in blood flow and changes in phospholipid metabolism. Using this technique, researchers can improve their understanding of how certain diseases change the shape and function of the brain.