Personalized Genomic Research
| Status: | Recruiting |
|---|---|
| Conditions: | Women's Studies |
| Therapuetic Areas: | Reproductive |
| Healthy: | No |
| Age Range: | Any - 100 |
| Updated: | 2/17/2019 |
| Start Date: | January 24, 2011 |
| Contact: | Paul S Kruszka, M.D. |
| Email: | kruszkaps@mail.nih.gov |
| Phone: | (301) 402-9654 |
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.
- 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.
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.
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.
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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