Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1.
Beth I Solomon, Andrew C Smith, Ninet Sinaii...
https://pubmed.ncbi.nlm.nih.gov/32897301Actively Recruiting
Age: 1Day - 120Years
All Genders
Healthy Volunteers
ID00344331
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-06-08
900
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating Niemann-Pick Disease, Type C (NPC), a rare genetic disorder that causes progressive loss of nervous system function. This study aims to identify clinical and laboratory tests that may help determine if an investigational drug can slow the disease's progression. It also seeks to find clinical or biochemical markers to measure treatment response and to define the rate at which these markers change over time in NPC patients. Participants of any age with NPC undergo evaluations every six months during 4- to 5-day admissions. These include medical, neurological, and neuropsychometric exams; blood and urine tests; lumbar punctures to collect cerebrospinal fluid; eye exams and eye movement studies with special contact lenses; hearing tests; electroretinography to assess retina function; brain MRI scans; psychometric questionnaires; and pregnancy tests for females over 10 years old. Photographs may be taken for scientific use with consent. Throughout the study, researchers assess clinical and biochemical markers, including plasma oxysterols, to track disease progression. Participants may experience a range of neurological symptoms from mild to severe but must be stable enough to travel and undergo testing. Data collected will help guide future treatment trials and improve outcome measurements for NPC. Participation involves repeated visits and comprehensive testing over time to monitor the disease's course and response to potential treatments.
CONDITIONS
Brief Title
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Who Can Participate
Age: 1Day - 120Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Diagnosis of Niemann-Pick Disease, Type C (NPC) by clinical, biochemical, or molecular methods
- Includes NPC1 and NPC2 patients
- Patients of any age
- Both males and females
- Any ethnic background
- Ability to travel and tolerate medical evaluations during study visits
- Consent provided for participation and specimen collection when applicable
You will not qualify if you...
- Unable to travel to the clinical center due to medical condition or too ill to be cared for at home
- Rapidly progressive neonatal cholestasis
- Currently pregnant (a negative pregnancy test is required before each admission for menstruating females)
- Contraindications to specimen collection methods
- Contraindications to MRI or not meeting MRI safety criteria
- Lack of consent for participation or biospecimen collection
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Up to 1 day
Participants undergo clinical and biochemical assessments to establish baseline measurements related to Niemann-Pick Disease, Type C.
1 visit (in-person)
Long-term Monitoring
Duration - Ongoing throughout the study
Participants are observed over time to assess disease progression through clinical and biochemical markers.
Periodic visits depending on clinical status
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
D
Derek M Alexander
F
Forbes D Porter, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.
Khushboo Singhal, Matthew T Menold, Niamh X Cawley...
https://pubmed.ncbi.nlm.nih.gov/42106890Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.
Khushboo Singhal, Matthew T Menold, Niamh X Cawley...
https://pubmed.ncbi.nlm.nih.gov/42052237Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.
Khushboo Singhal, Matthew T Menold, Niamh X Cawley...
https://pubmed.ncbi.nlm.nih.gov/41742944Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.
Cristan Farmer, Monica Lewis, Nicole Farhat...
https://pubmed.ncbi.nlm.nih.gov/40525490Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.
Beth I Solomon, Andrea M Muñoz, Ninet Sinaii...
https://pubmed.ncbi.nlm.nih.gov/38863022Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.
Kiersten Campbell, Niamh X Cawley, Rachel Luke...
https://pubmed.ncbi.nlm.nih.gov/36721240Phenotypic expression of swallowing function in Niemann-Pick disease type C1.
Beth I Solomon, Andrea M Muñoz, Ninet Sinaii...
https://pubmed.ncbi.nlm.nih.gov/36064725Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.
Audrey Thurm, Colby Chlebowski, Lisa Joseph...
https://pubmed.ncbi.nlm.nih.gov/32073546