Beta-ThalassemiaNCT05133388
The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients
An observational study of Beta-Thalassemia, run by Assiut University at 1 site in Egypt.
Trial summary
To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-110 (G>A) [HBB:c.93-21G˃A] mutation. To detect the prevelence of the mutation among Assiut University Hospital patients. Phenotype/genotype correlation of the mutation. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Beta-Thalassemia
- What is being tested?
- ARMS PCR
- How many people
- 150 participants
- Where
- 1 siteEgypt
- Study dates
- 30 Jan 2023to Oct 2024
- 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 Any age
- All sexes
- Child, Adult, Older adult
Study population: Assiut University Hospitals patients
Who may be able to join
- β thalassemia (suspected \& clinically diagnosed cases)
Who cannot join
- Iron deficiency anaemia, anaemia of chronic disease, types of haemolytic anaemias other than thalassemia, other types of thalassemia and Hb variants.
Trial locations and contacts
1 site in 1 country.
Mohamed Samir contact
Egypt1 site, 1 recruiting
- Recruiting
Faculty of Medicine Assiut University
Asyut
Mohamed Samir, 01015484723
About this study
Official title: The Prevelence of HBB c.93-21 G-A Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals.
- To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-110 (G>A) [HBB:c.93-21G˃A] mutation.
- To detect the prevelence of the mutation among Assiut University Hospital patients.
- Phenotype/genotype correlation of the mutation.
Read the detailed description
- The β-thalassaemias result from over 300 gene mutations (Kurtoğlu A,et al 2016)
- These mutations are regionally specific and the spectrum of mutations has been determined for most at-risk populations. The strategy for identifying β-thalassaemia mutations is usually based on knowledge of the common mutations in the ethnic group of the individual being screened (Old JM, 2007).
The β globin gene mutation [HBB:c.93-21G˃A] or IVS I-110 (G>A) is the most common β globin gene mutation in the Mediterranean region (Old JM, 2007). . There is no consensus about the % of the mutation among β thalassemic patients in Egypt [has been reported (25.8%) by El-Gawhary et al. 2007, (33.75%) by Soliman et al. 2010, (48%) by El-Shanshory et al. 2014, (22%) by Elmezayen et al. 2015 and (34%) by Elhalfawy et al. 2017].
According to the HbVar site, it represents 33% of the β globin gene mutations in the Egyptians. 28.5% according to Henderson S ,et al 2009 .
- The mechanism of this mutation depends on formation of a new splicing site resulting in 80% abnormal spliced mRNA and 20% normal mRNA .
- The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and in prenatal diagnosis.
- The amplification-refractory mutation system (ARMS) is a simple method for detecting any mutation involving single base changes or small deletions.
- The DNA is analyzed after amplification by PCR for Detection of point mutation IVS I-110 (G>A) by Using primer pairs that only amplify individual alleles.
- Conditions
- Beta-Thalassemia
- Being tested
- ARMS PCR
- Medical subject headings
- beta-Thalassemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ARMS PCRGenetic
ARMS PCR using primer pairs that only amplify individual alleles
What is being measured
The primary outcome is the main question the study is designed to answer.
Introduction of arms pcr in diagnosis .
To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation
Measured: 2 years
Database initation .
Initiating database of haemoglobinopathesis by registering data.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Nov 2021
- Study start30 Jan 2023
- Primary completionJun 2024 (estimated)
- Study completionOct 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Beta-ThalassemiaStudies 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-control
- Time perspective
- Retrospective
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Amira Saber Hamed Ahmed, Assiut University
- Investigators
- Ola Afifi, Study director, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05133388
- Sponsor's protocol ID
- β thalassemia gene mutation
- Status last verified
- Jan 2023
- First submitted
- 3 Nov 2021
- Last updated
- 31 Jan 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Henderson S, Timbs A, McCarthy J, Gallienne A, Van Mourik M, Masters G, May A, Khalil MS, Schuh A, Old J. Incidence of haemoglobinopathies in various populations - the impact of immigration. Clin Biochem. 2009 Dec;42(18):1745-56. doi: 10.1016/j.clinbiochem.2009.05.012. Epub 2009 Jun 1.
PubMed 19497317Old JM. Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest. 2007;67(1):71-86. doi: 10.1080/00365510601046466.
PubMed 17365985El-Gawhary S, El-Shafie S, Niazi M, Aziz M, El-Beshlawy A. Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients. Hemoglobin. 2007;31(1):63-9. doi: 10.1080/03630260601057104.
PubMed 17365006Soliman OE, Yahia S, Shouma A, Shafiek HK, Fouda AE, Azzam H, Abousamra NK, Mahfouz R, Goda EF, El-Sharawy SA. Reverse hybridization StripAssay detection of beta-thalassemia mutations in northeast Egypt. Hematology. 2010 Jun;15(3):182-6. doi: 10.1179/102453310X12583347010214.
PubMed 20557680El-Shanshory M, Hagag A, Shebl S, Badria I, Abd Elhameed A, Abd El-Bar E, Al-Tonbary Y, Mansour A, Hassab H, Hamdy M, Alfy M, Sherief L, Sharaf E. Spectrum of Beta Globin Gene Mutations in Egyptian Children with beta-Thalassemia. Mediterr J Hematol Infect Dis. 2014 Nov 1;6(1):e2014071. doi: 10.4084/MJHID.2014.071. eCollection 2014.
PubMed 25408857Elmezayen AD, Kotb SM, Sadek NA, Abdalla EM. beta-Globin Mutations in Egyptian Patients With beta-Thalassemia. Lab Med. 2015 Winter;46(1):8-13. doi: 10.1309/LM1AYKG6VE8MLPHG.
PubMed 25617386Kurtoglu A, Karakus V, Erkal O, Kurtoglu E. beta-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study. Hemoglobin. 2016 Nov;40(6):392-395. doi: 10.1080/03630269.2016.1256818. Epub 2017 Mar 3.
PubMed 28276871
Study at a glance
From the registry record, last updated by the sponsor on 31 Jan 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Prevelence of HBB c.93-21 G-A Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals.
- ClinicalTrials.gov ID
- NCT05133388
- Acronym / sponsor ID
- β thalassemia gene mutation
- Conditions
- Beta-Thalassemia
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 30 Jan 2023 (actual)
- Primary completion
- Jun 2024 (estimated)
- Study completion
- Oct 2024 (estimated)
- First posted
- 24 Nov 2021 (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.
- To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-110 (G>A) [HBB:c.93-21G˃A] mutation.
- To detect the prevelence of the mutation among Assiut University Hospital patients.
- Phenotype/genotype correlation of the mutation.
Detailed description
- The β-thalassaemias result from over 300 gene mutations (Kurtoğlu A,et al 2016)
- These mutations are regionally specific and the spectrum of mutations has been determined for most at-risk populations. The strategy for identifying β-thalassaemia mutations is usually based on knowledge of the common mutations in the ethnic group of the individual being screened (Old JM, 2007).
The β globin gene mutation [HBB:c.93-21G˃A] or IVS I-110 (G>A) is the most common β globin gene mutation in the Mediterranean region (Old JM, 2007). . There is no consensus about the % of the mutation among β thalassemic patients in Egypt [has been reported (25.8%) by El-Gawhary et al. 2007, (33.75%) by Soliman et al. 2010, (48%) by El-Shanshory et al. 2014, (22%) by Elmezayen et al. 2015 and (34%) by Elhalfawy et al. 2017].
According to the HbVar site, it represents 33% of the β globin gene mutations in the Egyptians. 28.5% according to Henderson S ,et al 2009 .
- The mechanism of this mutation depends on formation of a new splicing site resulting in 80% abnormal spliced mRNA and 20% normal mRNA .
- The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and in prenatal diagnosis.
- The amplification-refractory mutation system (ARMS) is a simple method for detecting any mutation involving single base changes or small deletions.
- The DNA is analyzed after amplification by PCR for Detection of point mutation IVS I-110 (G>A) by Using primer pairs that only amplify individual alleles.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Assiut University Hospitals patients
Key inclusion criteria (1 listed)
- β thalassemia (suspected \& clinically diagnosed cases)
Key exclusion criteria (1 listed)
- Iron deficiency anaemia, anaemia of chronic disease, types of haemolytic anaemias other than thalassemia, other types of thalassemia and Hb variants.
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 |
|---|---|---|
| ARMS PCRARMS PCR using primer pairs that only amplify individual alleles | Genetic | – |
Primary outcome
Introduction of arms pcr in diagnosis .
Time frame: 2 years
To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation
Database initation .
Time frame: 2 years
Initiating database of haemoglobinopathesis by registering data.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Jan 2023.
- Background: PubMed 19497317Henderson S, Timbs A, McCarthy J, Gallienne A, Van Mourik M, Masters G, May A, Khalil MS, Schuh A, Old J. Incidence of haemoglobinopathies in various populations - the impact of immigration. Clin Biochem. 2009 Dec;42(18):1745-56. doi: 10.1016/j.clinbiochem.2009.05.012. Epub 2009 Jun 1.
- Background: PubMed 17365985Old JM. Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest. 2007;67(1):71-86. doi: 10.1080/00365510601046466.
- Background: PubMed 17365006El-Gawhary S, El-Shafie S, Niazi M, Aziz M, El-Beshlawy A. Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients. Hemoglobin. 2007;31(1):63-9. doi: 10.1080/03630260601057104.
- Background: PubMed 20557680Soliman OE, Yahia S, Shouma A, Shafiek HK, Fouda AE, Azzam H, Abousamra NK, Mahfouz R, Goda EF, El-Sharawy SA. Reverse hybridization StripAssay detection of beta-thalassemia mutations in northeast Egypt. Hematology. 2010 Jun;15(3):182-6. doi: 10.1179/102453310X12583347010214.
- Background: PubMed 25408857El-Shanshory M, Hagag A, Shebl S, Badria I, Abd Elhameed A, Abd El-Bar E, Al-Tonbary Y, Mansour A, Hassab H, Hamdy M, Alfy M, Sherief L, Sharaf E. Spectrum of Beta Globin Gene Mutations in Egyptian Children with beta-Thalassemia. Mediterr J Hematol Infect Dis. 2014 Nov 1;6(1):e2014071. doi: 10.4084/MJHID.2014.071. eCollection 2014.
- Background: PubMed 25617386Elmezayen AD, Kotb SM, Sadek NA, Abdalla EM. beta-Globin Mutations in Egyptian Patients With beta-Thalassemia. Lab Med. 2015 Winter;46(1):8-13. doi: 10.1309/LM1AYKG6VE8MLPHG.
- Background: PubMed 28276871Kurtoglu A, Karakus V, Erkal O, Kurtoglu E. beta-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study. Hemoglobin. 2016 Nov;40(6):392-395. doi: 10.1080/03630269.2016.1256818. Epub 2017 Mar 3.
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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. This study is not recruiting at the moment.
Mohamed Samir contact
Ola Afifi study director
Assiut University
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 Beta-Thalassemia, run by Assiut 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 1 inclusion and 1 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 31 Jan 2023. 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 Amira Saber (01063954423, amirasaberh@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Introduction of arms pcr in diagnosis . (time frame: 2 years). The study lists 2 primary outcomes in all. 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 NCT05133388, which also lists 7 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 31 Jan 2023.