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Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

Recruitingn/aAges 2 Years - 100 YearsAllNational Human Genome Research Institute (NHGRI)
NCT06595940 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 t

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📋 Eligibility rules (as published)
* INCLUSION CRITERIA: To be eligible to participate in this study, an individual must meet all of the following criteria: 1. Stated willingness to comply with all study procedures and availability for the duration of the study. 2. Probands aged \>2 years at enrollment or first-degree relatives of probands (age \>2 years). 3. Suspicion of genetic etiology of illness due to strong family history, precocious onset, severity or mildness of phenotype, or all factors being present. 4. Affected individuals and unaffected family members, determination of clinical criteria for inclusion will be determined by medical record review prior to participation. 5. Ability of participant and their parent or guardian to understand and have willingness to sign a written informed consent and/or assent document. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: 1. 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. 2. Individuals who have undergone diagnostic testing for a genetic condition AND the test results were positive. 3. Evidence that symptoms are secondary or caused by an undiagnosed condition that is unlikely to have a genetic cause. 4. 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.
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What it tests

  • Not listed
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Where

1 site
University of Mauritius
Moka, Mauritius
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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