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Study interest shifted
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Group 1 | Study cohort is comprised of healthy children, ages 2yrs - 8yrs, who are already undergoing a lumbar puncture procedure at New York Presbyterian Hospital for clinical or diagnostic purposes. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Group 1 | Other | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Cerebrospinal fluid (CSF) | 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. | 1 time point (once) |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects will be healthy controls (children ages 2 years to 8 years) undergoing a lumbar puncture at New York Presbyterian Hospital, for clinical care purposes. They will be inpatients and outpatients.
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| Name | Affiliation | Role |
|---|---|---|
| Ronald G Crystal, MD | Weill Medical College of Cornell University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Weill Cornell Medical College / New York Presbyterian Hospital | New York | New York | 10065 | United States |
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| ID | Term |
|---|---|
| D009472 | Neuronal Ceroid-Lipofuscinoses |
| ID | Term |
|---|---|
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
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5 mL of cerebrospinal fluid (CSF) will be collected in this study at one time point.
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |