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OpenTrials
Completed

NCT Number: NCT01375543

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

Background:

- 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.

Objective:

-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.

Eligibility:

* 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.

Design:

* 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.

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Key information

Conditions

Genetic Predisposition Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Disease Susceptibility Genetic Diseases, Inborn Genetic Predisposition to Disease Pathologic Processes Pathological Conditions, Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

  • INCLUSION CRITERIA:
  • 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.
  • Family members of a proband who is eligible for this protocol.

Exclusion criteria

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

Treatment and study plan

Primary outcomes

  1. Gene Mutations

    Time frame: Baseline, Continuously

    Identify genetic causes of rare diseases

Secondary outcomes

  1. Deidentified sequence data

    Time frame: Baseline, Continuously

    Allow NICHD investigators to access de-identified sequence data generated by the NICHD Molecular Genomics Laboratory

Sponsors and collaborators

Lead sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Nih

Registry information

Official study title

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

Important dates

Study start
2011
Primary completion
2018
Study completion
2019
First posted
Jun 17, 2011
Registry last updated
Jan 6, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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