Beta-ThalassemiaNCT05370677
The Prevelence of IVS 1-6 (T-C) [HBB:c.92 +6 T-C] Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals
An observational study of Beta-Thalassemia, run by Assiut University.
Trial summary
1. - To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T>C) mutation. 2. - To detect the prevelence of the mutation among Assiut University Hospital patients. 3. - 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
- How many people
- 141 participants
- Where
- No sites listed yet
- Study dates
- May 2022to Dec 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: around 141 (suspected \& clinically diagnosed cases).
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
No sites are listed yet.
About this study
- - To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T>C) 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 300 gene mutations ( https://globin.bx.psu.edu ).
All of the mutations are regionally specific and the spectrum of mutations has now been determined for most at-risk populations(Old JM, 2007).
- The strategy for identifying β-thalassaemia mutations is usually based on the knowledge of the common and rare mutations in the ethnic group of the individual being screened.(Old JM, 2007) .
- In Mediterranean it represnts 8-15%
- In Africa it represnts 3.5%
- In Egyptians it represnts 13.6% ( https://globin.bx.psu.edu ).
- The β globin gene mutation IVS I-6(T>C) is the First most common β globin gene mutation among Egyptians
- (36.3%) according to ( Somaia El-Gawhary et al 2007 )
- (27.66%) ( Ammar D. Elmezayen et al 2015 )
- and the second most common mutation
- (40%) according to ( El-shanshory M et al 2014)
- (21.25%) ( Elhalfawy et al 2017) The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and to offer 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 analysed after amplification by PCR for Detection of point mutation IVS I-6(T>C) by Using primer pairs that only amplify individual alleles [ARMS] .
- Conditions
- Beta-Thalassemia
- Being tested
- ARMS
- Medical subject headings
- beta-Thalassemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ARMSGenetic
amplification refractory mutation system
What is being measured
The primary outcome is the main question the study is designed to answer.
using ARMS to detect the mutation
- To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation.
- Initiating the department database of haemoglobinopathesis by regisptering data.
Measured: 2 years
Secondary outcomes (1)
teaching purpose
teaching purpose
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 posted11 May 2022
- Study startMay 2022 (estimated)
- Primary completionSep 2024 (estimated)
- Study completionDec 2024 (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 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
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 141 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Fatma Elzahraa Mohamed Abd Elrady Farghly, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05370677
- Sponsor's protocol ID
- thalassemia mutation
- Status last verified
- May 2022
- First submitted
- 7 May 2022
- Last updated
- 11 May 2022
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Origa R. beta-Thalassemia. Genet Med. 2017 Jun;19(6):609-619. doi: 10.1038/gim.2016.173. Epub 2016 Nov 3.
PubMed 27811859Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11.
PubMed 20492708Kumar R, Sagar C, Sharma D, Kishor P. beta-globin genes: mutation hot-spots in the global thalassemia belt. Hemoglobin. 2015;39(1):1-8. doi: 10.3109/03630269.2014.985831. Epub 2014 Dec 19.
PubMed 25523871Hashmi G, Qidwai A, Fernandez K, Seul M. Enabling routine beta-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis. BMC Med Genet. 2020 May 15;21(1):108. doi: 10.1186/s12881-020-01017-x.
PubMed 32414341
Study at a glance
From the registry record, last updated by the sponsor on 11 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Prevelence of IVS 1-6 (T-C) [HBB:c.92 +6 T-C] Gene Mutation in Suspected Cases of β Thalassemia in Assiut University Hospitals
- ClinicalTrials.gov ID
- NCT05370677
- Acronym / sponsor ID
- thalassemia mutation
- Conditions
- Beta-Thalassemia
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 141 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- May 2022 (estimated)
- Primary completion
- Sep 2024 (estimated)
- Study completion
- Dec 2024 (estimated)
- First posted
- 11 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.
- - To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T>C) 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 300 gene mutations ( https://globin.bx.psu.edu ).
All of the mutations are regionally specific and the spectrum of mutations has now been determined for most at-risk populations(Old JM, 2007).
- The strategy for identifying β-thalassaemia mutations is usually based on the knowledge of the common and rare mutations in the ethnic group of the individual being screened.(Old JM, 2007) .
- In Mediterranean it represnts 8-15%
- In Africa it represnts 3.5%
- In Egyptians it represnts 13.6% ( https://globin.bx.psu.edu ).
- The β globin gene mutation IVS I-6(T>C) is the First most common β globin gene mutation among Egyptians
- (36.3%) according to ( Somaia El-Gawhary et al 2007 )
- (27.66%) ( Ammar D. Elmezayen et al 2015 )
- and the second most common mutation
- (40%) according to ( El-shanshory M et al 2014)
- (21.25%) ( Elhalfawy et al 2017) The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and to offer 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 analysed after amplification by PCR for Detection of point mutation IVS I-6(T>C) by Using primer pairs that only amplify individual alleles [ARMS] .
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- around 141 (suspected \& clinically diagnosed cases).
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 |
|---|---|---|
| ARMSamplification refractory mutation system | Genetic | – |
Primary outcome
using ARMS to detect the mutation
Time frame: 2 years
* To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation. * Initiating the department database of haemoglobinopathesis by regisptering data.
1 secondary outcome
teaching purpose
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 May 2022.
- Background: PubMed 27811859Origa R. beta-Thalassemia. Genet Med. 2017 Jun;19(6):609-619. doi: 10.1038/gim.2016.173. Epub 2016 Nov 3.
- Background: PubMed 20492708Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11.
- Background: PubMed 25523871Kumar R, Sagar C, Sharma D, Kishor P. beta-globin genes: mutation hot-spots in the global thalassemia belt. Hemoglobin. 2015;39(1):1-8. doi: 10.3109/03630269.2014.985831. Epub 2014 Dec 19.
- Background: PubMed 32414341Hashmi G, Qidwai A, Fernandez K, Seul M. Enabling routine beta-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis. BMC Med Genet. 2020 May 15;21(1):108. doi: 10.1186/s12881-020-01017-x.
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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.
Questions about this trial
What is this clinical trial studying?
An observational study of Beta-Thalassemia, 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 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 11 May 2022. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Fatma Elzahraa Mohamed Abd Elrady (01099696566, fattmamohamedabdelrady@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
using ARMS to detect the mutation (time frame: 2 years). 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 NCT05370677, 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 11 May 2022.