Rare Inherited Bleeding Disorders in Children at Sohag University HospitalNCT05381922
Rare Inherited Bleedig Disorders in Children at Sohag University Hospital
An observational study of Rare Inherited Bleeding Disorders in Children at Sohag University Hospital, run by Sohag University at 1 site in Egypt.
Trial summary
The RBDs are autosomal disorders, which can be manifested in homozygotes or compound heterozygotes by a severe bleeding tendency caused by a severe deficiency or dysfunction of a clotting factor . Read more about this study
- Who is it for?
- Ages 1 day to 18 years
- Conditions the study is for
- Rare Inherited Bleeding Disorders in Children at Sohag University Hospital
- What is being tested?
- blood laboratory investigation(coagulation profile- platelet function test)
- How many people
- 20 participants
- Where
- 1 siteEgypt
- Study dates
- 13 May 2022to 13 May 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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 1 day to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Rare inherited bleedig disorders in children at sohag university hospital
Who may be able to join
- This study included children, aged 0-18 years, attending to pediatric department at Sohag university hospital for evaluation of bleeding symptoms, family history of a bleeding disorder and/or abnormal coagulation studies, previously diagnosed to have RBDS or recent diagnosed
- Bleeding questionnaire is done during patients' clinic visit Symptoms included in this questionnaire are epistaxis , cutaneous bleeding , minor cutaneous wound , oral cavity bleeding , hematemesis , melena and hematochezia , hematuria , tooth extraction , surgical bleeding , menorrhagia , muscle hematomas or hemoarthrosis and CNS bleeding
Who cannot join
- Patients older than 18 years.
- Other acquired bleeding disorder
- common inherited bleeding disorders
Trial locations and contacts
1 site in 1 country.
Alzahraa A Ahmed, professor contact
Egypt1 site, 1 recruiting
- Recruiting
Sohag University Hospital
Sohag
Osama R Elshrif, professor
About this study
The RBDs are autosomal disorders, which can be manifested in homozygotes or compound heterozygotes by a severe bleeding tendency caused by a severe deficiency or dysfunction of a clotting factor . (1) During the haemostatic response the formation of primary platelet plug limits bleeding and provides a surface for clotting factors to assemble and become activated .the initial platelet plug is stabilized by fibrin monomers ,covalently cross-linked by fXIII, forming a platelet fibrin thrombus .(2-5) Defect in platelets as well as inherited deficiencies of coagulation factors including fibrinogen ,FII,fV , FVII,FX, fXI and factor FXIII deficiencies , generally lead to lifelong bleeding disorders whose severity of bleeding symptoms is heterogeneous in platelet abnormalities but generally inversely proportional to the degree of the factor deficiency in rare bleeding disorders (RBDs). (4) the prevalence of platelet defects among the general population has not been established , whereas for RBDs it range from approximately 1in 2 million to 500,000, being higher in countries where consanguineous marriages are diffused .(6)
- As a consequence of the rarity of these deficiencies ,the type and severity of bleeding symptoms ,the underlying molecular defects and the actual management of bleeding episodes are not well established . (1) Platelet defects can alter circulating platelet numbers, function or both. These conditions are typically manifested by symptoms of excessive mucocutaneous bleeding and rapid onset, excessive bleeding following invasive surgical and dental procedures or trauma. There is considerable heterogeneity in the severity of bleeding problems associated with these defects. (7) Treatment of patients with RBDs during bleeding episodes or surgery is a challenge because of the lack of experience, paucity of data, non-availability of factor concentrates for some deficiency states and the possible occurrence of severe complications .(8) Patients who are homozygotes or compound heterozygotes for a RBD frequently present with spontaneous and or injury-related bleeding. Therapy during such episodes usually includes fresh frozen plasma or specific plasma-derived factor concentrates, which potentially carry significant risks and have adverse effects. (9,10)
- Being tested
- blood laboratory investigation(coagulation profile- platelet function test)
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood laboratory investigation(coagulation profile- platelet function test)Other
blood laboratory investigation including ( complete blood count, coagulation profile, platelet function test, level of factor decrease
What is being measured
The primary outcome is the main question the study is designed to answer.
prevalence of rare bleeding disorders in children at sohag university hospital
assess the pattern ,clinical picture of different types of rare bleeding disorders and complication in children attending to hematological unit at sohag university hospital
Measured: 1year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2022
- Study start13 May 2022
- Primary completion13 May 2023 (estimated)
- Study completion13 May 2023 (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 Rare Inherited Bleeding Disorders in Children at Sohag University HospitalStudies of the same condition, open and under way.
- More trials run by Sohag 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
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Arwa Kadry Khalaf, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05381922
- Sponsor's protocol ID
- Soh-Med-22-05-14
- Status last verified
- May 2022
- First submitted
- 15 May 2022
- Last updated
- 19 May 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Publications
Nurden P, Stritt S, Favier R, Nurden AT. Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. Haematologica. 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153.
PubMed 33147934Palla R, Peyvandi F, Shapiro AD. Rare bleeding disorders: diagnosis and treatment. Blood. 2015 Mar 26;125(13):2052-61. doi: 10.1182/blood-2014-08-532820. Epub 2015 Feb 23.
PubMed 25712993Acharya SS, Coughlin A, Dimichele DM; North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost. 2004 Feb;2(2):248-56. doi: 10.1111/j.1538-7836.2003.t01-1-00553.x.
PubMed 14995986Perez Botero J, Warad DM, He R, Uhl CB, Tian S, Otteson GE, Barness RL, Olson MC, Gossman SC, Charlesworth JE, Nichols WL, Pruthi RK, Chen D. Comprehensive Platelet Phenotypic Laboratory Testing and Bleeding History Scoring for Diagnosis of Suspected Hereditary Platelet Disorders: A Single-Institution Experience. Am J Clin Pathol. 2017 Jul 1;148(1):23-32. doi: 10.1093/ajcp/aqx038.
PubMed 28575217
Study at a glance
From the registry record, last updated by the sponsor on 19 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rare Inherited Bleedig Disorders in Children at Sohag University Hospital
- ClinicalTrials.gov ID
- NCT05381922
- Acronym / sponsor ID
- Soh-Med-22-05-14
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Study start
- 13 May 2022 (actual)
- Primary completion
- 13 May 2023 (estimated)
- Study completion
- 13 May 2023 (estimated)
- First posted
- 19 May 2022 (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.
The RBDs are autosomal disorders, which can be manifested in homozygotes or compound heterozygotes by a severe bleeding tendency caused by a severe deficiency or dysfunction of a clotting factor . (1) During the haemostatic response the formation of primary platelet plug limits bleeding and provides a surface for clotting factors to assemble and become activated .the initial platelet plug is stabilized by fibrin monomers ,covalently cross-linked by fXIII, forming a platelet fibrin thrombus .(2-5) Defect in platelets as well as inherited deficiencies of coagulation factors including fibrinogen ,FII,fV , FVII,FX, fXI and factor FXIII deficiencies , generally lead to lifelong bleeding disorders whose severity of bleeding symptoms is heterogeneous in platelet abnormalities but generally inversely proportional to the degree of the factor deficiency in rare bleeding disorders (RBDs). (4) the prevalence of platelet defects among the general population has not been established , whereas for RBDs it range from approximately 1in 2 million to 500,000, being higher in countries where consanguineous marriages are diffused .(6)
- As a consequence of the rarity of these deficiencies ,the type and severity of bleeding symptoms ,the underlying molecular defects and the actual management of bleeding episodes are not well established . (1) Platelet defects can alter circulating platelet numbers, function or both. These conditions are typically manifested by symptoms of excessive mucocutaneous bleeding and rapid onset, excessive bleeding following invasive surgical and dental procedures or trauma. There is considerable heterogeneity in the severity of bleeding problems associated with these defects. (7) Treatment of patients with RBDs during bleeding episodes or surgery is a challenge because of the lack of experience, paucity of data, non-availability of factor concentrates for some deficiency states and the possible occurrence of severe complications .(8) Patients who are homozygotes or compound heterozygotes for a RBD frequently present with spontaneous and or injury-related bleeding. Therapy during such episodes usually includes fresh frozen plasma or specific plasma-derived factor concentrates, which potentially carry significant risks and have adverse effects. (9,10)
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 1 day to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Rare inherited bleedig disorders in children at sohag university hospital
Key inclusion criteria (2 listed)
- This study included children, aged 0-18 years, attending to pediatric department at Sohag university hospital for evaluation of bleeding symptoms, family history of a bleeding disorder and/or abnormal coagulation studies, previously diagnosed to have RBDS or recent diagnosed
- Bleeding questionnaire is done during patients' clinic visit Symptoms included in this questionnaire are epistaxis , cutaneous bleeding , minor cutaneous wound , oral cavity bleeding , hematemesis , melena and hematochezia , hematuria , tooth extraction , surgical bleeding , menorrhagia , muscle hematomas or hemoarthrosis and CNS bleeding
Key exclusion criteria (3 listed)
- Patients older than 18 years.
- Other acquired bleeding disorder
- common inherited bleeding disorders
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood laboratory investigation(coagulation profile- platelet function test)blood laboratory investigation including ( complete blood count, coagulation profile, platelet function test, level of factor decrease | Other | – |
Primary outcome
prevalence of rare bleeding disorders in children at sohag university hospital
Time frame: 1year
assess the pattern ,clinical picture of different types of rare bleeding disorders and complication in children attending to hematological unit at sohag university hospital
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 May 2022.
- Background: PubMed 33147934Nurden P, Stritt S, Favier R, Nurden AT. Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. Haematologica. 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153.
- Background: PubMed 25712993Palla R, Peyvandi F, Shapiro AD. Rare bleeding disorders: diagnosis and treatment. Blood. 2015 Mar 26;125(13):2052-61. doi: 10.1182/blood-2014-08-532820. Epub 2015 Feb 23.
- Background: PubMed 14995986Acharya SS, Coughlin A, Dimichele DM; North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost. 2004 Feb;2(2):248-56. doi: 10.1111/j.1538-7836.2003.t01-1-00553.x.
- Background: PubMed 28575217Perez Botero J, Warad DM, He R, Uhl CB, Tian S, Otteson GE, Barness RL, Olson MC, Gossman SC, Charlesworth JE, Nichols WL, Pruthi RK, Chen D. Comprehensive Platelet Phenotypic Laboratory Testing and Bleeding History Scoring for Diagnosis of Suspected Hereditary Platelet Disorders: A Single-Institution Experience. Am J Clin Pathol. 2017 Jul 1;148(1):23-32. doi: 10.1093/ajcp/aqx038.
- Individual participant dataSharing planned: Yes
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. This study is not recruiting at the moment.
Alzahraa A Ahmed, professor contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Inherited Bleeding Disorders in Children at Sohag University Hospital, run by Sohag University at 1 site in Egypt.
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 2 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: status not confirmed, as of the sponsor's last update on 19 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Arwa k khalaf, resident (01016628421, banharkhadry@med.sohag.edu.eg), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
prevalence of rare bleeding disorders in children at sohag university hospital (time frame: 1year). 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 NCT05381922, 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 19 May 2022.