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

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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

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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
Actual Primary Completion Date :	September 2014
Actual Study Completion Date :	September 2014

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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.

Criteria

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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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Locations

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)

Investigators

Principal Investigator:	Marc Patterson, MD	Mayo Clinic

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations 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 ); LDN6715
First Posted:	July 16, 2013
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; Niemann-Pick Diseases; Niemann-Pick Disease, Type A; Niemann-Pick Disease, Type C; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurocognitive Disorders; Mental Disorders; Speech Disorders; Language Disorders; Communication Disorders; Neurodegenerative Diseases; Metabolic Diseases; Lysosomal Storage Diseases, Nervous System	Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lymphatic Diseases; Genetic Diseases, Inborn; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Aphasia, Primary Progressive; Frontotemporal Dementia; Frontotemporal Lobar Degeneration; Dementia; Aphasia; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; TDP-43 Proteinopathies