Genetic Disease Clinical Trial
Official title:
Personalized Genomic Research
Verified date | September 2020 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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....
Status | Completed |
Enrollment | 353 |
Est. completion date | September 10, 2020 |
Est. primary completion date | August 1, 2020 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 1 Month and older |
Eligibility |
- 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. |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Human Genome Research Institute (NHGRI) |
United States,
Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Noonan syndrome in diverse populations. Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27. — View Citation
Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. Eur J Hum Genet. 2017 Aug;25(8):946-951. doi: 10.1038/ejhg.2017.86. Epub 2017 May 17. — View Citation
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Primary | Natural history | genomic diagnosis | lifetime |
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