Down SyndromeNCT07807540
Hematological Profile in Children With Numerical Chromosomal Disorders
An observational study of Down Syndrome and Turner Syndrome, run by Assiut University.
Trial summary
This cross-sectional study aims to evaluate the hematological profile and determine the frequency and pattern of hematological abnormalities in children with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital. Read more about this study
- Who is it for?
- Ages 28 days to 18 years
- Conditions the study is for
- Down Syndrome, Turner Syndrome, Klinefelter Syndrome
- How many people
- 158 participants
- Where
- No sites listed yet
- Study dates
- 2 Nov 2026to 20 Jul 2028
- How long will I take part?
- 1 Day
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 28 days to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Children aged 28 days to 18 years diagnosed with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital.
Who may be able to join
- - Age from 28 days to 18 years
- Confirmed numerical chromosomal disorder (Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, or Patau syndrome) by karyotype
- Written informed consent from parents or legal guardians
Who cannot join
- - Age below 28 days
- Patients receiving chemotherapy
- Refusal of parents or legal guardians to participate
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Evaluation of Hematological Profile in Children With Numerical Chromosomal Disorders
This cross-sectional study aims to evaluate the hematological profile and determine the frequency and pattern of hematological abnormalities in children with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital.
Read the detailed description
Numerical chromosomal disorders such as Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and Patau syndrome are associated with various hematological abnormalities. These may include anemia, macrocytosis, thrombocytopenia, leukocyte abnormalities, and increased risk of hematological malignancies, particularly in Down syndrome.
This cross-sectional study will include children aged 28 days to 18 years with confirmed numerical chromosomal disorders. Complete blood count and peripheral blood smear examination will be performed to evaluate the hematological profile and determine the frequency and pattern of abnormalities.
- Keywords
- Numerical chromosomal disorders, Hematological profile, Down syndrome, Complete blood count, Children
- Medical subject headings
- Down Syndrome, Turner Syndrome, Klinefelter Syndrome, Trisomy 18 Syndrome, Chromosome Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Single cohort: Children with numerical chromosomal disorders | Children aged 28 days to 18 years with confirmed numerical chromosomal disorders who will undergo complete blood count and peripheral blood smear examination to evaluate their hematological profile. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of hematological abnormalities
Proportion of children with numerical chromosomal disorders who have one or more hematological abnormalities (anemia, macrocytosis, thrombocytopenia, leukopenia, leukocytosis, or abnormal peripheral blood smear findings), expressed as percentage.
Measured: Baseline
Secondary outcomes (3)
Pattern of hematological abnormalities
Distribution and pattern of specific hematological abnormalities (anemia, macrocytosis, thrombocytopenia, neutropenia, etc.) among the studied children.
Measured: Baseline
Hematological profile according to syndrome type
Comparison of hematological parameters (hemoglobin, MCV, platelet count, white blood cell count) among different numerical chromosomal disorders (Down syndrome, Turner syndrome, and others).
Measured: Baseline
Correlation of hematological abnormalities with clinical features
Correlation coefficient between the presence of hematological abnormalities and clinical features (recurrent infections, bleeding manifestations, hepatosplenomegaly), using Spearman or Pearson correlation as appropriate.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Sep 2026
- Study start2 Nov 2026 (estimated)
- Primary completion26 Nov 2027 (estimated)
- Study completion20 Jul 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 158 participants (estimated)
- Target duration
- 1 Day
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Dalia Abdo Abdelhafez Sayed, Assiut University
- Investigators
- Mohamed M Hamdy, prof, Study chair, Pediatrics Department, Assiut University Hospitals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07807540
- Sponsor's protocol ID
- Hematology-Chromosomal-Disorde
- Status last verified
- Oct 2026
- First submitted
- 2 Sep 2026
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Costa FF, Foly LS, Coutinho MP. DataGenno: building a new tool to bridge molecular and clinical genetics. Appl Clin Genet. 2011 Mar 18;4:45-54. doi: 10.2147/TACG.S17597. Print 2011.
PubMed 23776366Bull MJ. Down Syndrome. N Engl J Med. 2020 Jun 11;382(24):2344-2352. doi: 10.1056/NEJMra1706537. No abstract available.
PubMed 32521135Nothen MM, Propping P. Identifying genetic factors in common diseases: more helpful in relation to etiology than prediction. Dtsch Arztebl Int. 2013 May;110(19):329-30. doi: 10.3238/arztebl.2013.0329. No abstract available.
PubMed 23762203Gershwin LJ, Netherwood KA, Norris MS, Behrens NE, Shao MX. Equine IgE responses to non-viral vaccine components. Vaccine. 2012 Dec 14;30(52):7615-20. doi: 10.1016/j.vaccine.2012.10.029. Epub 2012 Oct 23.
PubMed 23088888
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Hematological Profile in Children With Numerical Chromosomal Disorders
- ClinicalTrials.gov ID
- NCT07807540
- Acronym / sponsor ID
- Hematology-Chromosomal-Disorde
- Keywords
- Numerical chromosomal disorders, Hematological profile, Down syndrome, Complete blood count, Children
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 158 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 2 Nov 2026 (estimated)
- Primary completion
- 26 Nov 2027 (estimated)
- Study completion
- 20 Jul 2028 (estimated)
- First posted
- 8 Sep 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This cross-sectional study aims to evaluate the hematological profile and determine the frequency and pattern of hematological abnormalities in children with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital.
Detailed description
Numerical chromosomal disorders such as Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and Patau syndrome are associated with various hematological abnormalities. These may include anemia, macrocytosis, thrombocytopenia, leukocyte abnormalities, and increased risk of hematological malignancies, particularly in Down syndrome.
This cross-sectional study will include children aged 28 days to 18 years with confirmed numerical chromosomal disorders. Complete blood count and peripheral blood smear examination will be performed to evaluate the hematological profile and determine the frequency and pattern of abnormalities.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Day
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Single cohort: Children with numerical chromosomal disorders | – | –Children aged 28 days to 18 years with confirmed numerical chromosomal disorders who will undergo complete blood count and peripheral blood smear examination to evaluate their hematological profile. |
Who may qualify
- Ages
- 28 days to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Children aged 28 days to 18 years diagnosed with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital.
Key inclusion criteria (3 listed)
- - Age from 28 days to 18 years
- Confirmed numerical chromosomal disorder (Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, or Patau syndrome) by karyotype
- Written informed consent from parents or legal guardians
Key exclusion criteria (3 listed)
- - Age below 28 days
- Patients receiving chemotherapy
- Refusal of parents or legal guardians to participate
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Frequency of hematological abnormalities
Time frame: Baseline
Proportion of children with numerical chromosomal disorders who have one or more hematological abnormalities (anemia, macrocytosis, thrombocytopenia, leukopenia, leukocytosis, or abnormal peripheral blood smear findings), expressed as percentage.
3 secondary outcomes
Pattern of hematological abnormalities
Time frame: Baseline
Hematological profile according to syndrome type
Time frame: Baseline
Correlation of hematological abnormalities with clinical features
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- Background: PubMed 23776366Costa FF, Foly LS, Coutinho MP. DataGenno: building a new tool to bridge molecular and clinical genetics. Appl Clin Genet. 2011 Mar 18;4:45-54. doi: 10.2147/TACG.S17597. Print 2011.
- Background: PubMed 32521135Bull MJ. Down Syndrome. N Engl J Med. 2020 Jun 11;382(24):2344-2352. doi: 10.1056/NEJMra1706537. No abstract available.
- Background: PubMed 23762203Nothen MM, Propping P. Identifying genetic factors in common diseases: more helpful in relation to etiology than prediction. Dtsch Arztebl Int. 2013 May;110(19):329-30. doi: 10.3238/arztebl.2013.0329. No abstract available.
- Background: PubMed 23088888Gershwin LJ, Netherwood KA, Norris MS, Behrens NE, Shao MX. Equine IgE responses to non-viral vaccine components. Vaccine. 2012 Dec 14;30(52):7615-20. doi: 10.1016/j.vaccine.2012.10.029. Epub 2012 Oct 23.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mohamed M Hamdy, prof study chair
Pediatrics Department, Assiut University Hospitals
Questions about this trial
What is this clinical trial studying?
An observational study of Down Syndrome and Turner Syndrome, run by Assiut University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Dalia a Sayed, Resident (+20 11 54130609, Dalia.18331747@med.aun.edu.eg), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of hematological abnormalities (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07807540, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.