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NCT01087320 · ClinicalTrials.gov registry record
Genome Medical Sequencing for Gene Discovery
A clinical trial of Rare Disorders and Intellectual Disabilities, sponsored by National Human Genome Research Institute (NHGRI).
- Recruiting
- Registry status
- 2,000
- Enrollment target
- 1
- Study location
NCT01087320: Recruiting study of Rare Disorders and Intellectual Disabilities, sponsored by National Human Genome Research Institute (NHGRI).
NCT01087320 is a study of Rare Disorders and Intellectual Disabilities that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 2,000 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT01087320, a study of Rare Disorders and Intellectual Disabilities, is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).
- RECRUITING
- Registry status
- 2,000 participants
- Enrollment target
- 1
- Study location
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 offe
Primary Outcome
We aim to sequence penetrant cases to study the molecular variations of rare genetic disorders, to better predict pathogenicity and identify new causative variants.
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 2,000 participants |
| Start Date | 2010-02-18 |
What NCT01087320 shows while recruiting
NCT01087320 is an observational study that tracks outcomes without assigning an intervention. Its 2,000 participants enrollment target places it among the larger protocols in the corpus.
The record links to 3 conditions, with Rare Disorders appearing as the primary indexed condition, and to 0 interventions.
NCT01087320 reports a single indexed study location in Maryland.
Frequently Asked Questions
What is clinical trial NCT01087320 about?
NCT01087320 is a clinical study titled "Genome Medical Sequencing for Gene Discovery". 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 c...
What is the current status of trial NCT01087320?
This trial is currently recruiting. The enrollment target is 2,000 participants. The study started on 2010-02-18.
What conditions does trial NCT01087320 study?
This clinical trial studies the following conditions: Rare Disorders, Intellectual Disabilities, Congenital Anomaly.
Who is sponsoring clinical trial NCT01087320?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT01087320 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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