Personalized Genomic Research

NCT01294345 | Completed

• 2 other identifiers: 11009311-HG-0093
• Study Type: observational
• Target: 353
• Locations: 1 country
• Sites: 1

Brief Summary

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....

Conditions

Genetics; Genetic Disease; Genetic Linkage; Birth Defects; Genetic Variation

Keywords

Genomics; Personalized; Congenital Malformations; Birth Defects

Outcome Measures

Primary Outcomes (1)

• Natural history

  genomic diagnosis

  lifetime

Study Arms (1)

personalized genomics

genetic/genomic syndromes

Eligibility Criteria

• Age: 1 Month+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Study populations are from hospital and clinical settings.

You may qualify if:

• Presence of a congenital malformation or related medical finding thought to be related to errors in early human development.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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, Chavez 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.

  PMID: 28748642 BACKGROUND

• 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.

  PMID: 28513610 BACKGROUND

• Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, Kruszka P. Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening. J Clin Endocrinol Metab. 2017 May 1;102(5):1529-1537. doi: 10.1210/jc.2016-3414.

  PMID: 28324009 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

Biospecimen

Retention: SAMPLES WITH DNA

Biospecimens include blood and tissue samples

MeSH Terms

Conditions

Genetic Diseases, Inborn; Congenital Abnormalities

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Paul S Kruszka, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 10, 2011
• First Posted: February 11, 2011
• Study Start: January 24, 2011
• Primary Completion: August 1, 2020
• Study Completion: September 10, 2020
• Last Updated: September 14, 2020

Record last verified: 2020-09

Locations

US (1)