Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents (NCT07175168) | Clinical Trial Compass
Not Yet RecruitingNot Applicable
Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents
230 participantsStarted 2025-10-01
Plain-language summary
This research study will investigate a special type of Down syndrome called translocation Down syndrome. While most children with Down syndrome have an extra copy of chromosome 21, about 3-4% have this extra chromosome material attached to another chromosome, known as a translocation. This form can sometimes be inherited from a parent who carries a balanced translocation.
The aim of the study is to find out how common translocation Down syndrome is among children with confirmed Down syndrome in Assiut, Egypt, and to check whether their parents are carriers of a balanced translocation. Understanding this will help improve family counseling, estimate the chance of recurrence in future pregnancies, and guide genetic screening and prevention strategies.
Who can participate
Age range
1 Year – 18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this study is focused specifically on translocation Down syndrome rather than the more common trisomy 21, how would my child's doctor confirm which type of Down syndrome my child has before we consider whether this study might be relevant to us?
2This trial isn't recruiting yet — given that status, is there any benefit to expressing interest now, and how would we find out when enrollment actually opens?
3Since the study also looks at parents of children with translocation Down syndrome, could participating mean my own chromosomes would be tested, and what would it mean for our family if I were found to carry a chromosomal translocation?
4If my child does have translocation Down syndrome, would the results from this study change anything about their current care plan, or is this purely a research study that wouldn't directly affect their treatment?
5Are there standard genetic counseling services available to us right now that could answer some of these same questions about translocation type and family risk, even if we decide not to participate in this trial?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Prevalence of unbalanced translocation Down syndrome among children with cytogenetically confirmed Down syndrome
Timeframe: At the time of enrollment (October 2025 - September 2027)