Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis
Conditions
Keywords
Cerebrospinal fluid, Lumbar puncture, Spinal tap, Late infantile neuronal ceroid lipofuscinosis, Batten disease
Brief summary
The purpose of this study is to obtain cerebrospinal fluid from healthy children already undergoing a lumbar puncture procedure at New York Presbyterian Hospital, to act as healthy controls when compared to children with late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal neurodegenerative disease.
Detailed description
obtain cerebrospinal fluid from healthy children already undergoing a lumbar puncture procedure at New York Presbyterian Hospital, to act as healthy controls when compared to children with late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal neurodegenerative disease.
Interventions
Collecting a small amount of cerebrospinal fluid (5 mL) from healthy children, ages 2 yrs - 8 yrs, who are already undergoing a lumbar puncture procedure at New York Presbyterian Hospital for clinical or diagnostic purposes.
Sponsors
Study design
Eligibility
Inclusion criteria
* Males and females, ages 2 yrs to 8 yrs * Children already undergoing a lumbar puncture procedure for clinical or diagnostic purposes
Exclusion criteria
* Presence of any significant neurological diseases, as judged by the co-investigators * Presence of any significant medical conditions including cancer
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Cerebrospinal fluid (CSF) | 1 time point (once) | The primary study endpoint is the metabolic profiling of 32 samples of cerebrospinal fluid from healthy subjects, in comparison to 32 samples of CSF from children with LINCL, to determine whether there are biomarkers found in the cerebrospinal fluid that are associated with LINCL. |
Countries
United States