New study to uncover hidden genetic carriers of down syndrome in families
NCT ID NCT07175168
First seen Jun 24, 2026 · Last updated Jun 26, 2026 · Updated 1 time
Summary
This study will look at 230 children with Down syndrome and their parents to find out how many have a rare form called translocation Down syndrome. Researchers will use blood tests to check if parents carry a balanced translocation that can be passed down. The goal is to better understand how often this happens and improve family planning advice.
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 improve genetic counseling for families with translocation Down syndrome and help estimate recurrence risks in future pregnancies.
- What could go wrong
- This is an observational study with no treatment, so it won't directly change health outcomes. Results may not apply outside Egypt.
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 230 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Oct 2025
An estimate. Start dates often move.
- Expected to finish
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Dec 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Children with cytogenetically confirmed Down syndrome attending Assiut University Children's Hospital and Health Insurance Hospital, along with their biological parents for karyotyping.
- Ages
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1 year to 18 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: * Children aged 0-18 years with confirmed diagnosis of Down syndrome by chromosomal analysis. Availability of at least one biological parent willing to undergo chromosomal analysis. Exclusion Criteria: * Children with Down syndrome due to free trisomy 21 or mosaicism. Incomplete parental data or refusal of parental participation.
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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 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.
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