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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

001018-CH

Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 3 mo
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Genetic;
Clinical;
DNA;
Medical;
History;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Niemann-Pick Disease, Type C

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Child Health and Human Development

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.

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Eligibility

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


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Forbes D. Porter, M.D.
National Institute of Child Health and Human Development (NICHD)
NIHBC 10 - CRC BG RM 5-2571
10 CENTER DR
BETHESDA MD 20892
(301) 435-4432
fdporter@mail.nih.gov

Derek Alexander
National Institute of Child Health and Human Development (NICHD)
BG 10-CRC RM 1-3330
10 CENTER DR
BETHESDA MD 20814
(301) 827-0387
derek.alexander@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT05588167

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