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

Completed

• Conditions: Niemann-Pick Disease, Type C

• Registration Number: NCT01899950
• Lead Sponsor: Mayo Clinic

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2011-03
• Study First Submitted: 2013-07-04
• Study First Submitted QC: 2013-07-15
• Study First Posted: 2013-07-16
• Primary Completion: 2014-09
• Study Completion: 2014-09
• Status Verified: 2016-01
• Last Update Submitted: 2016-01-04
• Last Update Posted: 2016-01-06

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 70

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Composite score of neurocognitive measures	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.

Trial Locations

Locations (1)

Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States