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Protocol Details

Natural History Study: Gene First Approach to Connective Tissue Disease

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: 100 Years

Referral Letter Required


Population Exclusion(s)



elastic fiber;
gene variation;
genotype-phenotype correlations;
Natural History

Recruitment Keyword(s)



abnormal elastogenesis;
Vascular Diseases;
Connective Tissue Diseases

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Heart, Lung, and Blood Institute


Elastic fibers affect parts of the body that stretch repetitively, such as the skin, blood vessels, and lungs. Researchers want to use medical and research tests in patients with already identified changes in a set of connective tissue genes to better understand diseases related to elastic fibers.


To learn more about the impact of underlying changes in a set of connective tissue genes on people s overall health.


People ages 2-100 who have had a gene test that identified a change in a gene that affects elastic fibers. Initial emphasis will be placed on people with changes in ELN, LOX, MFAP4, FBLN5 and EFEMP2.


Participants will visit the NIH for several days to perform tests that will help researchers learn more about how changes in connective tissue genes affect a person s health. They will also have clinicians take their medical history and physical exam. Optional tests include giving blood samples, hair strand, urine, and/or saliva samples. They may have a cheek swab or skin biopsy. Their genes may be studied. Their cells may be grown in a laboratory. Participants may have photographs taken of the face and body.

They will receive exams by a medical team with experience in connective tissue disease. They may have a dental exam or eye exams and with photography. During the eye exam, pictures may be taken of the blood vessels in the eyes. If this occurs, they will get dye through an intravenous (IV) line in an arm vein.

They will also have medical tests to check the health of tissues that may be affected by these connective tissue genes. Participants may have lung function tests. They may have a six-minute walk test. They may complete a treadmill or bike stress test. Their heart s electrical activity may be recorded. Participants may have X-rays and ultrasounds. They may have a DEXA scan to measure bone density. They may have CT, MRI or other imaging scans. Some of these tests require the participant to get a contrast fluid via IV.

Participants may have a skin elasticity test using a suction cup that pulls lightly on their skin.

Participants may wear blood pressure cuffs while probes are placed on their skin. The tests will be chosen for each individual based on their specific gene change and no person is expected to complete all tests. Participation will last 3-5 days.

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

1. Participant must have a genetic variant in one of the connective tissue target genes identified on previous research or clinical genetic testing. A clinical or research report of the variant in question will be reviewed at the time of referral.

2. This variant must be of sufficient interest for focused study to the clinical research team. Interest may be based on a variety of factors including: its population frequency, potential pathogenicity, or apparent genotype/phenotype associations in the medical record, among others.

3. Male or female, within the ages of 2 and 100 years old.


1. Pregnancy or Nursing.

Rationale for excluding pregnant women

We do believe that pregnancy likely impacts connective tissue disease and deserves focused study. Unfortunately, we do not believe that our current study design will allow us to attract a large enough number of currently pregnant women to adequately power a direct study into the impacts of connective tissue disease on pregnancy. And the single visit nature of the study precludes following an individual throughout their pregnancy. As such, we have chosen to exclude currently pregnant women from the study. We do, however, welcome their participation once pregnancy is done. We expect that our history taking will include questions about pregnancy and so may still collect historical data related to these variants and pregnancy.

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Not Provided

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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

Teresa R. Luperchio
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 8N110
10 Center Drive
Bethesda, Maryland 20892
(240) 550-4039

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

Clinical Trials Number:


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