Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2014 by National Institutes of Health Clinical Center (CC)
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: June 16, 2011
Last updated: April 23, 2014
Last verified: April 2014


- The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or your family.


-To allow for exomic or genomic sequencing of NICHD patients or family members in order to identify changes in genes that cause or contribute to a specific disease.


  • Children who are enrolled in an NICHD clinical study where the condition being studied may have a genetic cause.
  • Family members of a child who is eligible for this study.


  • Children and family members will supply DNA samples. If the samples are already available, no further DNA will be needed.
  • If DNA is not available, samples of either blood or skin will be taken.
  • We will use these samples with new DNA sequencing technology that looks at all the human genes we know about. This is known as exome and genome sequencing.

Genetic Diseases

Study Type: Observational
Official Title: Next Generation Sequencing to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Gene Mutations

Estimated Enrollment: 100
Study Start Date: June 2011
Detailed Description:

Over the last few years advancements in DNA sequencing technology have progressed significantly. It now is feasible and economical to sequence the exome (known genes) or the entire genome. This technological advance can be applied to identifying genetic causes of rare diseases where traditional methods such as mapping frequently failed due to insufficient number of cases. These cases often present themselves in the context of other NICHD research protocols, such as teaching protocols, where it would not be efficient for the individual investigators to write a new protocol. It will also serve to standardize the consent document across NICHD for investigators that do not include exomic/genomic sequencing in their own protocol.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

    1. Proband s that are enrolled in an NICHD clinical protocol for which there is a suspicion of an underlying genetic cause for a disease for which they are being evaluated.
    2. Family members of a proband who is eligible for this protocol.


1. Normal volunteers unrelated to a proband with the disease of interest.

  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01375543

Contact: Charalampos Lysikatos-Lyssikatos, M.D. (301) 496-1211
Contact: Margarita J Raygada, Ph.D. (301) 451-8822

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   
Sponsors and Collaborators
Principal Investigator: Margarita J Raygada, Ph.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  More Information

Additional Information:
No publications provided Identifier: NCT01375543     History of Changes
Other Study ID Numbers: 110179, 11-CH-0179
Study First Received: June 16, 2011
Last Updated: April 23, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Gene Identification
Genetic Disorders processed this record on October 20, 2014