Clinical Trials: Completed

This study will examine and characterize the longitudinal progression of neurocognitive symptoms of NPC with the goal of identifying early markers of disease progression that may be utilized in later trials to evaluate treatment efficacy.

The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data.

This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Niemann-Pick type C disease (NPC).

The goals of this protocol are:

1. To validate the use of biomarkers in a therapeutic trial for NPC.
2. To evaluate the safety of N-acetylcysteine in NPC patients.
3. To evaluate the efficacy of N-acetylcysteine to improve biomarkers associated with increased oxidative stress in NPC patients.

To evaluate the changes in cognitive function after miglustat treatment in Niemann-Pick type C patients.

This study is to find out how safe and effective VTS-270 is for patients with Niemann-Pick Type C1 (NPC1) disease who have neurologic symptoms

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.

This is a Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With NPC1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes.

This is a phase II randomized controlled study of miglustat in adult and juvenile patients with Niemann-Pick Type C disease.