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 : January 25, 2024
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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 |
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Niemann-Pick Disease, Type C |
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:
- Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.
- Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.
- Establish the first and largest database of genomic and phenotypic information for NPC to benefit the NPC research and patient community.
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 |
Actual Study Start Date : | November 28, 2022 |
Estimated Primary Completion Date : | September 30, 2024 |
Estimated Study Completion Date : | September 30, 2024 |
Group/Cohort |
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Affected
Patients with Niemann-Pick Disease, type C
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- 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.
- Whole genome [ Time Frame: 2 years ]Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.
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: | 3 Months and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
- INCLUSION CRITERIA;
In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Provision of signed and dated informed consent form
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Male or female, any age, demographic or ethnic background will be eligible for this study
- 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:
- Unwilling to provide consent
- Unable to provide biospecimen to obtain DNA
- Unable to provide medical records or clinical data
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
Contact: Derek Alexander | (301) 827-0387 | derek.alexander@nih.gov | |
Contact: Forbes D Porter, M.D. | (301) 435-4432 | fdporter@mail.nih.gov |
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 |
Principal Investigator: | Forbes D Porter, M.D. | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
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: | January 25, 2024 |
Last Verified: | January 23, 2024 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Genetic Clinical DNA |
Medical History Natural History |
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 |