Personalized Genomic Research
Public ClinicalTrials.gov record NCT01294345. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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....
Study identification
- NCT ID
- NCT01294345
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 353 participants
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 1 Month and older
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jan 23, 2011
- Primary completion
- Jul 31, 2020
- Completion
- Sep 9, 2020
- Last update posted
- Sep 13, 2020
2011 – 2020
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01294345, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Sep 13, 2020 · Synced Sep 8, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01294345 live on ClinicalTrials.gov.