Genetic analysis of rare diseases in non-US populations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to investigate the genetic causes of uncommon diseases among children and their families living outside the United States, particularly in regions with limited access to genetic testing. Researchers will utilize advanced genomic techniques alongside traditional methods to explore the genetic contributions to these conditions. Participants will undergo screening, medical record reviews, physical exams, and provide genetic samples to help identify potential genetic factors. The study also seeks to establish an international network to enhance genetic research in underrepresented populations.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• University of Mauritius
  Moka, Mauritius Recruiting

Study contacts

• Principal investigator: Neil A Hanchard, M.D. — National Human Genome Research Institute (NHGRI)
• Study coordinator: Neil A Hanchard, M.D.
• Email: neil.hanchard@nih.gov
• Phone: (301) 594-2151

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.