New study uses genetic sequencing to solve mysterious childhood diseases
NCT ID NCT06595940
First seen Jun 24, 2026 · Last updated Sep 21, 2026 · Updated 60 times
Summary
This study aims to find genetic causes of rare diseases in children aged 2 to 18 who live outside the United States and have limited access to genetic testing. Researchers will collect blood, saliva, or cheek swab samples from affected children and their family members. The goal is to use advanced genomic techniques to identify disease-causing gene variants and improve understanding of these conditions.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could help identify genetic causes of rare diseases in underserved populations, leading to better diagnosis and potential future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It may not find genetic causes for all participants, and results may not lead to immediate therapies.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 400 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Sep 2026
An estimate. Start dates often move.
- Expected to finish
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Aug 2034
An estimate. End dates often move.
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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2 to 100 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* 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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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University of Mauritius
RECRUITINGMoka, Mauritius
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