Genetic analysis of rare diseases in non-US populations

Genomic Sequencing for Evaluation of Uncommon Disease Manifestations Through the Childhood Complex Disease Genomic Section

This study is trying to find the genetic causes of rare diseases in children and their families living outside the U.S. to improve understanding and access to testing in those areas.

Quick facts

• Study type: Observational
• Enrollment: 400 (estimated)
• Ages: 2 Years to 100 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (nih)
• Locations: 1 site (Moka)
• Trial ID: NCT06595940 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include children aged 2 to 18 years with suspected genetic diseases and their family members, residing primarily outside the US.

Not a fit: Patients who do not have a suspected genetic condition or are unwilling to participate in the study may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to better understanding and diagnosis of rare genetic diseases, ultimately improving patient care and treatment options.

How similar studies have performed: While this approach is innovative in its focus on underrepresented populations, similar studies have shown promise in uncovering genetic causes of diseases in diverse populations.

Eligibility criteria

* 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 this trial is running

Moka

• 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.

Conditions: Undiagnosed Diseases, Rare Diseases, Genetics, Genomic sequencing, Under-represented populations, Medical genetics, Clinical Phenotype, Uncommon disease