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

This study has been completed.
Rare Diseases Clinical Research Network
National Center for Advancing Translational Science (NCATS)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
Marc C. Patterson, M.D., Mayo Clinic Identifier:
First received: July 4, 2013
Last updated: January 4, 2016
Last verified: January 2016
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.

Niemann-Pick Disease, Type C

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Longitudinal Study of Cognition With Niemann-Pick Disease, Type C

Resource links provided by NLM:

Further study details as provided by Mayo Clinic:

Primary Outcome Measures:
  • 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.

Enrollment: 70
Study Start Date: March 2011
Study Completion Date: September 2014
Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)

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
Study Population
Longitudinal observational study of cognition in patients with NPC. Subjects will be recruited from participants in an observational study currently in progress at NIH, and from subjects receiving clinical care at Mayo Clinic. Participants will be administered age-and functionally-appropriate neuropsychological test instruments annually to track cognitive changes over time, and to link these data to the subjects' scores on the NIH disability scale.

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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01899950

United States, Minnesota
Mayo Clinic
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
Rare Diseases Clinical Research Network
National Center for Advancing Translational Science (NCATS)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Marc Patterson, MD Mayo Clinic
  More Information

Responsible Party: Marc C. Patterson, M.D., Principal Investigator, Mayo Clinic Identifier: NCT01899950     History of Changes
Other Study ID Numbers: 11-003868
U54NS065768 ( US NIH Grant/Contract Award Number )
Study First Received: July 4, 2013
Last Updated: January 4, 2016

Keywords provided by Mayo Clinic:
Niemann-Pick disease type C
Lysosomal disease

Additional relevant MeSH terms:
Niemann-Pick Disease, Type C
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Pick Disease of the Brain
Frontotemporal Dementia
Aphasia, Primary Progressive
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Histiocytosis, Non-Langerhans-Cell
Lymphatic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Frontotemporal Lobar Degeneration
Neurocognitive Disorders
Mental Disorders
Speech Disorders
Language Disorders processed this record on May 24, 2017