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Personalized Genomic Research

This study is currently recruiting participants.
Verified October 4, 2017 by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
Sponsor:
ClinicalTrials.gov Identifier:
NCT01294345
First Posted: February 11, 2011
Last Update Posted: October 19, 2017
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.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
  Purpose

Background:

- 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.

Objectives:

  • 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.

Eligibility:

- Individuals who have been diagnosed with a congenital malformation.

Design:

  • 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
Genetics Genetic Disease Genetic Linkage Birth Defects Genetic Variation

Study Type: Observational
Study Design: Time Perspective: Retrospective
Official Title: Personalized Genomic Research

Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):

Estimated Enrollment: 1000
Study Start Date: February 10, 2011
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.
  Eligibility

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, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:
  • 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.

EXCLUSION CRITERIA:

  • 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.
  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT01294345


Contacts
Contact: Paul S Kruszka, M.D. (301) 402-9654 kruszkaps@mail.nih.gov
Contact: Maximilian Muenke, M.D. (301) 402-8167 mamuenke@mail.nih.gov

Locations
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 Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Investigators
Principal Investigator: Maximilian Muenke, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Publications:
Responsible Party: National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier: NCT01294345     History of Changes
Other Study ID Numbers: 110093
11-HG-0093
First Submitted: February 10, 2011
First Posted: February 11, 2011
Last Update Posted: October 19, 2017
Last Verified: October 4, 2017

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

Additional relevant MeSH terms:
Genetic Diseases, Inborn
Congenital Abnormalities