Genome Medical Sequencing for Gene Discovery

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Human Genome Research Institute (NHGRI)
Study ID
NCT01087320
Status
Recruiting
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Conditions

  • Congenital Anomaly
  • Intellectual Disabilities
  • Rare Disorders

Eligibility Criteria

Sex
ALL
Age
4 Weeks - 99 Years
Healthy Volunteers
Not accepted

Study Details

Background: \- A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients. Objectives: * To identify the genetic cause of disorders that are difficult to identify with existing techniques. * To develop best practices for the medical and counseling challenges of genome sequencing. Eligibility: * Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers. * Family members of affected individuals, if that family member (often a parent) may provide genetic information. Design: Participants in this study will have at least one and in some cases several of the following procedures: * A medical genetics evaluation. * Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies. * Clinical photographs to document certain aspects of the disorder. * Blood, saliva, and skin biopsy samples, or other tissue samples, as required by the study doctors. * Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo genome sequencing, which is a technique to study all of a person s genes. * Participants will have choices about what kinds of results from genome sequencing they wish to learn. * After the tests have been completed and the results of the genetic studies are known, participants may be offered a return visit to the National Institutes of Health to learn these results, or the results may be returned by telephone or by a participant's home provider.

Key Dates

Start date
Feb 18, 2010
Status verified
Jun 2026

Study Design

Enrollment
2,000 participants (estimated)

Arms

  • Arm: Genetic Disorders
    Patients or family probands with genetic cause of disorders that are intractable or difficult to identify with existing technique.

Primary Outcome Measure

Analyze GSMS results for rare disorders for which genetic causes are known but not fully described [ Time Frame: Ongoing ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892-

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National Institutes of Health Clinical Center· Bethesda, MD

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