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Protocol Details

Human Biospecimen Procurement and Analysis to Support Translational Research to Identify Genetic Etiology and Disease Mechanism(s) in Rare Genetic Vascular/Cardiovascular Diseases

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

15-H-0190

Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 Mo
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Sample Collection;
Laboratory Research Specimens;
Biospecimen Procurement;
Rare Diseases;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Undiagnosed Diseases;
Cardiovascular Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Heart, Lung, and Blood Institute

Background:

Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.

Objective:

To collect blood and tissue samples for studies to identify underlying causes of disease.

Eligibility:

People of all ages

Design:

Participants will have blood and/or tissue samples collected.

Samples can be collected at the NIH Clinical Center. Participants doctors can collect the samples and send them to NIH. NIH staff can collect samples off site.

For blood samples, blood is taken from an arm vein using a needle.

Tissue collection may involve:

Buccal smear: Cells are collected by scraping the inside of the cheek with a cotton swab.

Saliva collection: Participants spit into a cup.

Skin biopsy: A special needle takes a very small skin sample.

Surgical waste tissue: If participants have surgery, NIH may receive samples of tissue that

would routinely be removed.

Umbilical cord or cord blood collection: If a participant has a baby, NIH may receive a

small piece of the umbilical cord or blood from the cord once the baby is delivered.

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Eligibility

INCLUSION CRITERIA (SUBJECTS MUST MEET ONE OF THE FOLLOWING):

-Age: older than 1 month of age

-Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study.

-Unaffected related pregnant women (including spouses/partners) for cord blood and tissue collection (surgical waste) only at the time of delivery.

-Cognitively impaired individuals that are affected

-Cognitively impaired individuals that are related to an affected subject.

-Subjects willing to provide informed consent.

EXCLUSION CRITERIA:

-Healthy volunteers unable to give informed consent

-Cognitively impaired individuals who are not affected

-Cognitively impaired individuals who are not related to affected subjects.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Manfred Boehm, M.D.
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 5-3132
10 Center Drive
Bethesda, Maryland 20892
(301) 435-7211
mb454z@nih.gov

Katherine Carney
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room B1D713
10 Center Drive
Bethesda, Maryland 20892
(301) 402-9841
katherine.carney@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:

NCT02543996

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