Testing blood and MRI markers for Niemann-Pick type C
Part of Blood & lymphatic, Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study measures biochemical (blood/biologic) markers and may use clinical evaluation and MRI to better understand Niemann-Pick disease type C. It could help improve how the condition is tracked and understood over time.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a confirmed diagnosis of Niemann-Pick disease type C (NPC), or are an NPC1/NPC2 carrier who agrees to sample collection
- You can travel to the NIH (National Institutes of Health) and are well enough for home care
- If you can become pregnant, you must have a negative urine pregnancy test before starting and at each NIH visit
- You must be willing to provide study samples (like blood or other biospecimens) and consent to the collection
- If MRI is planned, you must be able to safely have an MRI scan (no MRI safety contraindications)
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study collects health information and genetic samples from people diagnosed with Niemann-Pick disease type C. The goal is to build a large database that can help researchers better understand the condition and improve future care.
This Phase 3 trial tests whether N-acetyl-leucine can improve symptoms in people with Niemann-Pick disease type C (NPC). If you qualify, you will be asked to take study medicine and complete symptom and movement tests over time.
This study looks at people with CLN3 and other related forms of NCL (a childhood brain-wasting illness) to better describe symptoms and disease changes over time. You may be followed with regular check-ins, medical records, and sometimes NIH visits or sample collection.
This study helps collect information and provide certain clinical care and interventions for people who come to the National Cancer Institute (NCI) Clinical Center (CCR). It may be a fit if you need NCI-level evaluation or support because your condition is complex, or if you’re involved as a cellular therapy donor or certain family members needing genetic testing.
This study tracks people with NF1 to watch for when benign nerve tumors turn cancerous. It uses regular MRI scans to catch changes early, which could help guide treatment decisions.
This study looks at neuroendocrine tumors by collecting tissue (when available) and tracking how the disease behaves over time. It may help researchers better understand these cancers, including rare cases of adrenocortical cancer.
Hear when a new Niemann-Pick Disease, Type C trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.