NCT06595940 Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
| NCT ID | NCT06595940 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Human Genome Research Institute (NHGRI) |
| Condition | Undiagnosed Diseases |
| Study Type | OBSERVATIONAL |
| Enrollment | 400 participants |
| Start Date | 2026-07-27 |
| Primary Completion | 2034-08-21 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 400 participants in total. It began in 2026-07-27 with a primary completion date of 2034-08-21.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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
* 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.
Contact & Investigator
Neil A Hanchard, M.D.
PRINCIPAL INVESTIGATOR
National Human Genome Research Institute (NHGRI)
Frequently Asked Questions
Who can join the NCT06595940 clinical trial?
This trial is open to participants of all sexes, aged 2 Years or older, up to 100 Years, studying Undiagnosed Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06595940 currently recruiting?
Yes, NCT06595940 is actively recruiting participants. Contact the research team at neil.hanchard@nih.gov for enrollment information.
Where is the NCT06595940 trial being conducted?
This trial is being conducted at Moka, Mauritius.
Who is sponsoring the NCT06595940 clinical trial?
NCT06595940 is sponsored by National Human Genome Research Institute (NHGRI). The principal investigator is Neil A Hanchard, M.D. at National Human Genome Research Institute (NHGRI). The trial plans to enroll 400 participants.