Clinical trial NCT01375543: Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Official title: Next Generation Sequencing to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Genetic Predisposition
Keywords: Whole Exome
Whole Genome
Rare Disorders
Genetic Disorders
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2011-06-17
Enrollment: 128
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: -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.

Brief summary: 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.

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.

Eligibility criteria: * INCLUSION CRITERIA:

  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.

EXCLUSION CRITERIA:

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

Primary outcomes:
measure: Gene Mutations
timeFrame: Baseline, Continuously
Secondary outcomes:
measure: Deidentified sequence data
timeFrame: Baseline, Continuously
Other outcomes:
Locations:
city: Bethesda
country: United States
facility: National Institutes of Health Clinical Center, 9000 Rockville Pike
state: Maryland
Study officials:
affiliation: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
name: An N Dang Do, M.D.
role: PRINCIPAL_INVESTIGATOR
References: