Longitudinal Study of Cognition With Niemann-Pick Disease, Type C (NPC)
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ClinicalTrials.gov Identifier: NCT01899950 |
Recruitment Status
:
Completed
First Posted
: July 16, 2013
Last Update Posted
: January 6, 2016
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Condition or disease |
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Niemann-Pick Disease, Type C |
Study Type : | Observational |
Actual Enrollment : | 70 participants |
Observational Model: | Case-Only |
Time Perspective: | Prospective |
Official Title: | Longitudinal Study of Cognition With Niemann-Pick Disease, Type C |
Study Start Date : | March 2011 |
Actual Primary Completion Date : | September 2014 |
Actual Study Completion Date : | September 2014 |

- Composite score of neurocognitive measures [ Time Frame: Baseline and at yearly intervals for five years ]The composite score of neurocognitive measures will be calculated as follows: raw scores of neurocognitive tests will be transformed to Z-scores on normative data to allow comparison across measures administered at different ages. A score will be generated for each of the following domains: Intellectual Ability,Visual-Spatial Skills, Rote Verbal Memory, Narrative Verbal Memory, Visual-Spatial Construction, Nonverbal Working Memory, Language, Fine Motor, Attention, Executive Functioning, and Adaptive Behavior. Behavioral and emotional difficulties will be rated in terms of presence or absence of symptoms above a clinical cutoff score.

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Ages Eligible for Study: | 2 Years to 99 Years (Child, Adult, Senior) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
Inclusion Criteria:
All individuals between the ages of 2 years and 99 with an established diagnosis of Niemann-Pick Disease, Type C (biochemical or molecular) will be considered for this study. Patients with both Niemann-Pick Disease, Type C1 (NPC1) and Niemann-Pick Disease, Type C2 (NPC2) mutations are eligible to participate.
Exclusion Criteria:
Participants with at least one of the following will not be eligible for this study:
- Individuals that cannot travel because of their medical condition or are too ill to be cared for at home,
- Individuals with stage 4 disease (non-ambulant with vegetative disturbances)
- Individuals will be excluded if English is not their primary language

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01899950
United States, Minnesota | |
Mayo Clinic | |
Rochester, Minnesota, United States, 55905 |
Principal Investigator: | Marc Patterson, MD | Mayo Clinic |
Responsible Party: | Marc C. Patterson, M.D., Principal Investigator, Mayo Clinic |
ClinicalTrials.gov Identifier: | NCT01899950 History of Changes |
Other Study ID Numbers: |
11-003868 U54NS065768 ( U.S. NIH Grant/Contract ) LDN6715 |
First Posted: | July 16, 2013 Key Record Dates |
Last Update Posted: | January 6, 2016 |
Last Verified: | January 2016 |
Keywords provided by Marc C. Patterson, M.D., Mayo Clinic:
Niemann-Pick disease type C Lysosomal disease |
Additional relevant MeSH terms:
Pick Disease of the Brain Niemann-Pick Diseases Niemann-Pick Disease, Type A Niemann-Pick Disease, Type C Brain Diseases Central Nervous System Diseases Nervous System Diseases Neurocognitive Disorders Mental Disorders Speech Disorders Language Disorders Communication Disorders Neurodegenerative Diseases Metabolic Diseases Lysosomal Storage Diseases, Nervous System |
Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Lymphatic Diseases Genetic Diseases, Inborn Lysosomal Storage Diseases Lipid Metabolism Disorders Aphasia, Primary Progressive Frontotemporal Dementia Frontotemporal Lobar Degeneration Dementia Aphasia Neurobehavioral Manifestations Neurologic Manifestations Signs and Symptoms TDP-43 Proteinopathies |