Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

Summary

This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial. Patients of any age with NPC may be eligible for this study.

Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov

Conditions studied

• Niemann-Pick Disease, Type C

Eligibility basics and study details

Study type

Observational

Phase

Not applicable

Ages

1 day to 120 years

Sex

All

Healthy volunteers

Accepted

Sponsor

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

Last updated on ClinicalTrials.gov

October 2, 2026

These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.

US recruiting sites