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NCT Number: NCT05588167

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.

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Key information

Conditions

Niemann-Pick Disease, Type C Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hemic and Lymphatic Diseases Histiocytosis Histiocytosis, Non-Langerhans-Cell Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Niemann-Pick Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Age range

3 month and older

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location status: Recruiting

Location contact

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

CONTACT

[email protected]

800-411-1222 ext. TTY dial 711

About this study

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:

Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.
Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.
Establish the first and largest database of genomic and phenotypic information for NPC to benefit the NPC research and patient community.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

INCLUSION CRITERIA;

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

Provision of signed and dated informed consent form
Stated willingness to comply with all study procedures and availability for the duration of the study
Male or female, any age, demographic or ethnic background will be eligible for this study
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:

Unwilling to provide consent
Unable to provide biospecimen to obtain DNA
Unable to provide medical records or clinical data

Treatment and study plan

Primary outcomes

Clinical data, genomic markers

Time frame: 2 years

Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.
Whole genome

Time frame: 2 years

Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.

Study contacts

Contact information is provided by the study sponsor or research team.

Desiree A Labor, C.R.N.P.

CONTACT

[email protected]

(240) 678-7868

Forbes D Porter, M.D.

CONTACT

[email protected]

(301) 435-4432

Sponsors and collaborators

Lead sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Nih

Registry information

Important dates

Study start: 2022
Primary completion: 2026
Study completion: 2026
First posted: Oct 20, 2022
Registry last updated: Jul 17, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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