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

Niemann-Pick Disease, Type C Clinical Trial

— NPC  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01899950
• Other study ID #: 11-003868
• Secondary ID: U54NS065768LDN67
• Status: Completed
• Phase: N/A
• First received: July 4, 2013
• Last updated: January 4, 2016
• Start date: March 2011
• Est. completion date: September 2014

Study information

• Verified date: January 2016
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 70
• Est. completion date: September 2014
• Est. primary completion date: September 2014
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 2 Years to 99 Years

Eligibility

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

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

• Aphasia, Primary Progressive
• Frontotemporal Dementia
• Niemann-Pick Disease, Type C
• Niemann-Pick Diseases
• Pick Disease of the Brain

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (5)

Lead Sponsor	Collaborator
Mayo Clinic	National Center for Advancing Translational Science (NCATS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute of Neurological Disorders and Stroke (NINDS), Rare Diseases Clinical Research Network

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	Baseline and at yearly intervals for five years	No