What is this study trying to find out about Niemann-Pick Disease type C?

This study aims to understand why Niemann-Pick Disease type C affects people differently by collecting detailed clinical and genetic information. Researchers want to learn how different symptoms relate to genetic markers and disease progression. The study is sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Who may be eligible for this Niemann-Pick Disease type C clinical trial?

People of any age who have a diagnosis of Niemann-Pick Disease type C may be eligible. Both males and females from all backgrounds can participate if they are willing to provide consent, a blood sample, and medical records. Please review eligibility criteria for more details.

Is there any cost to participate in this Niemann-Pick Disease type C clinical trial?

Study-related care, including the blood sample and all study activities, is provided at no cost. Personal travel expenses or other costs related to participation may vary and are not guaranteed to be covered.

Actively Recruiting

Age: 3Months +

All Genders

ID05588167

Creating a Genomic and Symptom Database for Niemann-Pick Disease Type C to Understand Its Variations and Progression

Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-07-17

100

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Niemann-Pick type C NPC disease is a rare and progressive condition that mainly affects the brain, liver, and spleen, but can also impact other parts of the body. Symptoms vary widely among individuals and may include seizures, difficulty moving or talking, or dementia, showing up at different ages. Researchers aim to better understand why NPC affects people differently by collecting detailed clinical and genomic data in this observational study. Participants with NPC will have blood drawn once to analyze their DNA and provide genomic information. Their medical records will be reviewed to gather data on their diagnosis, symptoms, symptom duration, demographics, medications, and other test results. This will help build the first and largest database combining clinical and genomic information about NPC. Throughout the study, researchers will communicate with participants to answer questions and discuss study details. The main outcomes include analyzing clinical data and genomic markers over two years, including whole genome analysis. The study lasts up to four years, ending in 2026, and participants may receive up to 190 for their involvement.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 3Months +

All Genders

Eligibility Criteria

You may qualify if you...

Provision of signed and dated informed consent form
Willingness to comply with all study procedures and availability for the study duration
Male or female, any age, demographic, or ethnic background
Diagnosis of Niemann-Pick Disease type C based on clinical, biochemical, or molecular testing

You will not qualify if you...

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

Research Team

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

Forbes D Porter, M.D.

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