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Genome Medical Sequencing for Gene Discovery

NCT01087320 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 2000

Last updated 2026-05-22

No results posted yet for this study

Summary

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.

Conditions

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Leslie G Biesecker, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
4 Weeks
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-02-18

Countries

  • United States

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01087320 on ClinicalTrials.gov