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Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C

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ClinicalTrials.gov Identifier: NCT05588167
Recruitment Status : Recruiting
First Posted : October 20, 2022
Last Update Posted : February 1, 2023
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Brief Summary:

Background:

Niemann-Pick type C (NPC) disease is a rare, progressive neurodegenerative disease that affects mainly the brain, liver, and spleen but also other parts of the body. There is no cure for NPC, and symptoms only get worse over time. Symptoms can include seizures, difficulty moving or talking, or dementia. But symptoms can vary among different people with the disease. Some may have seizures, while others do not, for example. Some people begin showing symptoms in childhood; in others, symptoms may not appear until they are adults. Researchers want to learn more about why NPC affects people differently. This natural history study will gather data from people with NPC in order to understand more about the disease and how it affects the body.

Objective:

This study will create the first and largest database about NPC.

Eligibility:

People of any age who have NPC.

Design:

Participants will have blood drawn from a vein. This will happen only once. The blood will be used to analyze the participants DNA.

The participants medical records will be reviewed. The study team will collect data on participants NPC diagnosis and symptoms; they will record how long participants have had each symptom. The study team will also collect data on each participants age, sex, race, height, weight, medications, and other test results.

The study team will communicate with participants. They will discuss the study and answer any questions.

Participants will receive up to $190.


Condition or disease
Niemann-Pick Disease, Type C

Detailed Description:

Study Description:

The primary objective of this protocol is to investigate the phenotypic heterogeneity of NPC by using clinical and genomic data, and to establish a comprehensive database to facilitate future investigations.

Objectives:

  1. Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.
  2. Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.
  3. Establish the first and largest database of genomic and phenotypic information for NPC to benefit the NPC research and patient community.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Estimated Study Start Date : February 6, 2023
Estimated Primary Completion Date : September 30, 2024
Estimated Study Completion Date : September 30, 2024


Group/Cohort
Affected
Patients with Niemann-Pick Disease, type C



Primary Outcome Measures :
  1. Clinical data, genomic markers [ Time Frame: 2 years ]
    Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.

  2. Whole genome [ Time Frame: 2 years ]
    Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.



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.


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Ages Eligible for Study:   3 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with Niemann-Pick Disease, type C
Criteria
  • INCLUSION CRITERIA;

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

  1. Provision of signed and dated informed consent form
  2. Stated willingness to comply with all study procedures and availability for the duration of the study
  3. Male or female, any age, demographic or ethnic background will be eligible for this study
  4. Diagnosis of NPC will be based on clinical, biochemical or molecular testing.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

  1. Unwilling to provide consent
  2. Unable to provide biospecimen to obtain DNA
  3. Unable to provide medical records or clinical data

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): NCT05588167


Contacts
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Contact: Derek Alexander (301) 827-0387 derek.alexander@nih.gov
Contact: Forbes D Porter, M.D. (301) 435-4432 fdporter@mail.nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY dial 711    ccopr@nih.gov   
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
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Principal Investigator: Forbes D Porter, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Information:
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Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier: NCT05588167    
Other Study ID Numbers: 10001018
001018-CH
First Posted: October 20, 2022    Key Record Dates
Last Update Posted: February 1, 2023
Last Verified: October 14, 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Genetic
Clinical
DNA
Medical
History
Natural History
Additional relevant MeSH terms:
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Pick Disease of the Brain
Aphasia, Primary Progressive
Frontotemporal Dementia
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Frontotemporal Lobar Degeneration
Dementia
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Aphasia
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
TDP-43 Proteinopathies
Neurodegenerative Diseases
Proteostasis Deficiencies
Metabolic Diseases
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Histiocytosis, Non-Langerhans-Cell
Histiocytosis
Lymphatic Diseases