Official Title
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Brief Title
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Protocol ID
NCT05588167
Lead Sponsor
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.
...
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.
Study Period
-
Enrollment Count
100 participants
Eligibility 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
Filters
Niemann-Pick Disease, Type C
RECRUITING
CHILD
ADULT
OLDER_ADULT