Personalized Genomic Research

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01294345
Recruitment Status : Recruiting
First Posted : February 11, 2011
Last Update Posted : March 29, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:


- 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

Detailed Description:
Recent advances in genomic techniques are making possible a new wave of genetic discovery. We hope to couple genomic techniques with more traditional methods involved in genetic discovery in order to investigate a broad range of conditions for which there is strong evidence that genetic factors are involved. To accomplish this, we plan to enroll approximately five families, in whom members have congenital malformations consistent with an error of early human development, in our research protocol each year. Patients will be referred from outside clinicians or may self-refer, and may be seen at the NIH Clinical Center or may send samples for testing. Some participants, for whom we already have DNA or tissue stored, may be reconsented for specific participation in this protocol.

Study Type : Observational
Estimated Enrollment : 1000 participants
Time Perspective: Retrospective
Official Title: Personalized Genomic Research
Study Start Date : February 10, 2011

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • For affected individuals (individuals who are related to a person who meets criteria (1) below may also be included in the research protocol), determination of clinical criteria for inclusion will be determined by prior medical record review before participation.
  • Presence of a congenital malformation or related medical finding thought to be related to errors in early human development.


  • Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.
  • Clear evidence for the presence of a condition for which diagnostic testing is already available.

Information from the National Library of Medicine

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 identifier (NCT number): NCT01294345

Contact: Paul S Kruszka, M.D. (301) 402-9654
Contact: Maximilian Muenke, M.D. (301) 402-8167

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   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Maximilian Muenke, M.D. National Human Genome Research Institute (NHGRI)

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT01294345     History of Changes
Other Study ID Numbers: 110093
First Posted: February 11, 2011    Key Record Dates
Last Update Posted: March 29, 2018
Last Verified: October 4, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Birth Defects
Congenital Malformations

Additional relevant MeSH terms:
Genetic Diseases, Inborn
Congenital Abnormalities