Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
| Status: | Completed |
|---|---|
| Conditions: | Neurology, Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 2 - 99 |
| Updated: | 4/21/2016 |
| Start Date: | March 2011 |
| End Date: | September 2014 |
Niemann-Pick Disease, Type C (NPC) is a rare neurodegenerative disorder with a wide clinical
spectrum and variable age of onset. Classically, children with NPC demonstrate neurological
dysfunction with cerebellar ataxia (an inability to coordinate balance, gait, extremity and
eye movements), dysarthria (difficulty speaking), seizures, vertical gaze palsy (ability to
move eyes in the same direction) motor impairment, dysphagia (trouble swallowing), psychotic
episodes, and progressive dementia. There is no curative treatment for NPC and it is a
lethal disorder. The purpose of this protocol is to obtain both baseline and rate of
progression data on a clinical and biochemical markers that may later be used as outcome
measures in a clinical trial. Specifically, this study will examine and characterize the
longitudinal progression of neurocognitive symptoms of NPC with the goal of identifying
early markers of disease progression that may be utilized in later trials to evaluate
treatment efficacy.
spectrum and variable age of onset. Classically, children with NPC demonstrate neurological
dysfunction with cerebellar ataxia (an inability to coordinate balance, gait, extremity and
eye movements), dysarthria (difficulty speaking), seizures, vertical gaze palsy (ability to
move eyes in the same direction) motor impairment, dysphagia (trouble swallowing), psychotic
episodes, and progressive dementia. There is no curative treatment for NPC and it is a
lethal disorder. The purpose of this protocol is to obtain both baseline and rate of
progression data on a clinical and biochemical markers that may later be used as outcome
measures in a clinical trial. Specifically, this study will examine and characterize the
longitudinal progression of neurocognitive symptoms of NPC with the goal of identifying
early markers of disease progression that may be utilized in later trials to evaluate
treatment efficacy.
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:
1. Individuals that cannot travel because of their medical condition or are too ill to
be cared for at home,
2. Individuals with stage 4 disease (non-ambulant with vegetative disturbances)
3. Individuals will be excluded if English is not their primary language
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