Personalized Genomic Research
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|ClinicalTrials.gov Identifier: NCT01294345|
Recruitment Status : Recruiting
First Posted : February 11, 2011
Last Update Posted : September 2, 2019
- Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by changes in genetic material. Researchers are interested in studying individuals with these congenital malformations to better understand the causes and the effects of certain congenital malformations.
- To understand more about what causes congenital malformations that arise in early human development.
- To learn if genetic causes can be found to explain why a person has a congenital malformation.
- Individuals who have been diagnosed with a congenital malformation.
- Participants will be seen at the National Institutes of Health for a series of visits over 3 to 4 days. Participants will be asked to provide copies of past medical records and test results for review, and will be asked questions about pregnancy/prenatal history, birth, newborn, medical, developmental, and family history.
- Parents or siblings of participants may also be asked to provide information for research purposes.
- Participants may have additional medical evaluations as part of this study, including any of the following tests:
- Physical examinations
- Other consultations as clinically indicated
- Blood samples for genetic testing
- Tissue biopsy for genetic testing
- Photographs of affected areas, such as front and side views of the face and other body parts that may be involved in a congenital malformation, like the hands and feet.
- Other tests as indicated by a specific malformation, such as organ ultrasounds.
- No additional invasive testing, testing requiring sedation, or testing involving radiation is planned for this protocol. These tests, if performed, would involve a separate consent.
|Condition or disease|
|Genetics Genetic Disease Genetic Linkage Birth Defects Genetic Variation|
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Personalized Genomic Research|
|Actual Study Start Date :||January 24, 2011|
- Natural history [ Time Frame: lifetime ]genomic diagnosis
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): NCT01294345
|Contact: Paul S Kruszka, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||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 TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Paul S Kruszka, M.D.||National Human Genome Research Institute (NHGRI)|