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

NCT05588167 | Recruiting

• 2 other identifiers: 10001018001018-CH
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Niemann-Pick Disease, Type C

Keywords

Genetic; Clinical; DNA; Medical; History; Natural History

Outcome Measures

Primary Outcomes (2)

• 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

• Whole genome

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

  2 years

Study Arms (1)

Affected

Patients with Niemann-Pick Disease, type C

Eligibility Criteria

• Age: 3 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with Niemann-Pick Disease, type C

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Niemann-Pick Disease, Type C

Condition Hierarchy (Ancestors)

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

Study Officials

• Forbes D Porter, M.D.

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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

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

CONTACT

(240) 678-7868; desiree.labor@nih.gov

Forbes D Porter, M.D.

CONTACT

(301) 435-4432; fdporter@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 19, 2022
• First Posted: October 20, 2022
• Study Start: November 28, 2022
• Primary Completion (Estimated): September 30, 2026
• Study Completion (Estimated): September 30, 2026
• Last Updated: April 29, 2026

Record last verified: 2026-04-27

Locations

US (1)