We updated the design of this site on December 18, 2017. Learn more.
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01899950
Recruitment Status : Completed
First Posted : July 16, 2013
Last Update Posted : January 6, 2016
Information provided by (Responsible Party):

Study Description
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.

Condition or disease
Niemann-Pick Disease, Type C

Study Design

Study Type : Observational
Actual Enrollment : 70 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
Study Start Date : March 2011
Primary Completion Date : September 2014
Study Completion Date : September 2014

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :
  1. 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.

Eligibility Criteria

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
ClinicalTrials.gov Identifier: NCT01899950     History of Changes
Other Study ID Numbers: 11-003868
U54NS065768 ( U.S. NIH Grant/Contract )
First Posted: July 16, 2013    Key Record Dates
Last Update Posted: January 6, 2016
Last Verified: January 2016

Keywords provided by Marc C. Patterson, M.D., Mayo Clinic:
Niemann-Pick disease type C
Lysosomal disease

Additional relevant MeSH terms:
Pick Disease of the Brain
Frontotemporal Dementia
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Frontotemporal Lobar Degeneration
Aphasia, Primary Progressive
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Signs and Symptoms
TDP-43 Proteinopathies
Neurodegenerative Diseases
Proteostasis Deficiencies
Metabolic Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Histiocytosis, Non-Langerhans-Cell