Longitudinal Study of Cognition With Niemann-Pick Disease, Type C

Mayo Clinic70 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Niemann-Pick Disease, Type C

Eligibility

Sex: ALLMin age: 2 YearsMax age: 99 Years

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Composite score of neurocognitive measures

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.

Time frame: Baseline and at yearly intervals for five years