Niemann-Pick Disease, Type C Clinical Trial
Official title:
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
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.
Status | Recruiting |
Enrollment | 100 |
Est. completion date | September 30, 2024 |
Est. primary completion date | September 30, 2024 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 3 Months and older |
Eligibility | - INCLUSION CRITERIA; In order to be eligible to participate in this study, an individual must meet all of the following criteria: 1. Provision of signed and dated informed consent form 2. Stated willingness to comply with all study procedures and availability for the duration of the study 3. Male or female, any age, demographic or ethnic background will be eligible for this study 4. Diagnosis of NPC will be based on clinical, biochemical or molecular testing. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: 1. Unwilling to provide consent 2. Unable to provide biospecimen to obtain DNA 3. Unable to provide medical records or clinical data |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Clinical data, genomic markers | Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease. | 2 years | |
Primary | Whole genome | Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets. | 2 years |
Status | Clinical Trial | Phase | |
---|---|---|---|
Completed |
NCT03759639 -
N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
|
Phase 2 | |
Withdrawn |
NCT04189601 -
Complement Activation in the Lysosomal Storage Disorders
|
||
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
|