Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C

Overview

Background: Niemann-Pick type C (NPC) disease is a rare, progressive neurodegenerative disease that affects mainly the brain, liver, and spleen but also other parts of the body. There is no cure for NPC, and symptoms only get worse over time. Symptoms can include seizures, difficulty moving or talking, or dementia. But symptoms can vary among different people with the disease. Some may have seizures, while others do not, for example. Some people begin showing symptoms in childhood; in others, symptoms may not appear until they are adults. Researchers want to learn more about why NPC affects people differently. This natural history study will gather data from people with NPC in order to understand more about the disease and how it affects the body. Objective: This study will create the first and largest database about NPC. Eligibility: People of any age who have NPC. Design: Participants will have blood drawn from a vein. This will happen only once. The blood will be used to analyze the participants DNA. The participants medical records will be reviewed. The study team will collect data on participants NPC diagnosis and symptoms; they will record how long participants have had each symptom. The study team will also collect data on each participants age, sex, race, height, weight, medications, and other test results. The study team will communicate with participants. They will discuss the study and answer any questions. Participants will receive up to $190. ...

Study Description: The primary objective of this protocol is to investigate the phenotypic heterogeneity of NPC by using clinical and genomic data, and to establish a comprehensive database to facilitate future investigations. Objectives: 1. Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease. 2. Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets. 3. Establish the first and largest database of genomic and phenotypic information for NPC to benefit the NPC research and patient community.

Conditions