Establishment of Genomic & Phenotypic Database for Niemann-Pick Disease,

Status Recruiting

Clinical Trial Summary

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.

Clinical Trial Description

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. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT05588167
Study type	Observational
Source	National Institutes of Health Clinical Center (CC)
Contact	Derek Alexander
Phone	(301) 827-0387
Email	derek.alexander@nih.gov
Status	Recruiting
Phase
Start date	November 28, 2022
Completion date	September 30, 2024

View Details

See also
Status	Clinical Trial	Phase
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Completed	`NCT02435030` - A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C	N/A
Completed	`NCT02534844` - VTS-270 to Treat Niemann-Pick Type C1 (NPC1) Disease	Phase 2/Phase 3
Withdrawn	`NCT03687476` - Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) Disease	Phase 2
Enrolling by invitation	`NCT05368038` - ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Completed	`NCT01899950` - Longitudinal Study of Cognition With Niemann-Pick Disease, Type C	N/A
Terminated	`NCT00668564` - Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism	Phase 2
Active, not recruiting	`NCT05163288` - A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C	Phase 3
Active, not recruiting	`NCT02612129` - Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C	Phase 2/Phase 3
Recruiting	`NCT03471143` - Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C	Phase 1/Phase 2
Terminated	`NCT04958642` - Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease	Phase 2/Phase 3
Terminated	`NCT03879655` - Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1	Phase 2/Phase 3
Completed	`NCT00975689` - Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine	Phase 1/Phase 2
Withdrawn	`NCT01306604` - Biomarker for Niemann Pick Type C Disease (BioNPC)
Recruiting	`NCT00344331` - Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Active, not recruiting	`NCT05758922` - Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease	Phase 2
Completed	`NCT03910621` - Safety and Efficacy of Miglustat in Chinese NPC Patients	Phase 4
Available	`NCT04316637` - Early Access Program With Arimoclomol in US Patients With NPC

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

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

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms