Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2-100
SponsorNational Human Genome Research Institute (NHGRI)
About this trial
Background:
Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited.
Objective:
To look for potential genetic sources of diseases among children and their families.
Eligibility:
Children aged 2 to 18 years and their related family members who have or may have a genetic disease. They will reside primarily outside of the US.
Design:
Participants will be recruited at sites outside of the US. Participants will be screened. Their existing medical records will be reviewed. They will have a physical exam. They will answer questions about their family history and symptoms. Participants will provide samples for genetic testing. They may have blood drawn. They may spit saliva into a small container. They may have a cotton swab rubbed on the inside of the mouth. The samples will be shipped to the NIH for genetic testing. Participants will be notified if testing reveals a known disease. Participants may be asked to provide new samples to confirm the diagnosis. Local study teams will contact the participants about the results. Participants will also be notified if analysis yields gene variants that may cause disease.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Stated willingness to comply with all study procedures and availability for the duration of the study.
Probands aged >2 years at enrollment or first-degree relatives of probands (age >2 years).
Suspicion of genetic etiology of illness due to strong family history, precocious onset, severity or mildness of phenotype, or all factors being present.
Affected individuals and unaffected family members, determination of clinical criteria for inclusion will be determined by medical record review prior to participation.
Disqualifiers
Anyone unwilling to provide informed consent (for themselves as adults, on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.
Individuals who have undergone diagnostic testing for a genetic condition AND the test results were positive.
Evidence that symptoms are secondary or caused by an undiagnosed condition that is unlikely to have a genetic cause.
In the opinion of the investigator, participant has a condition that would preclude participation in the study by interfering with the participant s ability to engage in the required protocol evaluation and testing.
Trial population
To be eligible to participate in this study, an individual must meet all of the following criteria: willingness to comply with all study procedures and availability for the duration of the study; age \>2 years when enrolled in the study; suspicion of genetic cause for illness due to strong family history, young age of onset, illness being either more or less severe than expected; verification of meeting clinical inclusion criteria by reviewing a participant's medical record; ability of participant and their parent or guardian (if \<18 years old) to understand and willingly sign informed consent document. Those with previous genetic testing that was positive, those with evidence that their symptoms are caused by a condition unlikely to be genetic, or those with conditions that may interfere with their ability to participate in required testing will be excluded from this study.
Trial design
Design model
Family-based
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
400 Participants
are grouped into 2 trial groupsGroup A: Affected
Group B: Unaffected
Trial outcomes
Primary outcomes
1
Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes.
The outcome will be achieved when we have reached a point where use of appropriate genomic interrogation techniques does not yield new pathophysiological insights.
Time frame
10 yearsSecondary outcomes
1
Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics.
The creation of intra-institutional protocols, relationships with ethics committees, and development of genetic study expertise will indicate this endpoint has been reached.
Time frame
10 yearsSponsors and contacts
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Source ClinicalTrials.gov