Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05133388
Other study ID # ß thalassemia gene mutation
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date January 30, 2023
Est. completion date October 2024

Study information

Verified date January 2023
Source Assiut University
Contact Amira Saber
Phone 01063954423
Email amirasaberh@gmail.com
Is FDA regulated No
Health authority
Study type Observational

Clinical 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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 150
Est. completion date October 2024
Est. primary completion date June 2024
Accepts healthy volunteers
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - ß thalassemia (suspected & clinically diagnosed cases) Exclusion Criteria: - Iron deficiency anaemia, anaemia of chronic disease, types of haemolytic anaemias other than thalassemia, other types of thalassemia and Hb variants.

Study Design


Related Conditions & MeSH terms


Intervention

Genetic:
ARMS PCR
ARMS PCR using primer pairs that only amplify individual alleles

Locations

Country Name City State
Egypt Faculty of Medicine Assiut University Assiut

Sponsors (1)

Lead Sponsor Collaborator
Assiut University

Country where clinical trial is conducted

Egypt, 

References & Publications (7)

El-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. — View Citation

El-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. — View Citation

Elmezayen 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. — View Citation

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. — View Citation

Kurtoglu 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. — View Citation

Old JM. Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest. 2007;67(1):71-86. doi: 10.1080/00365510601046466. — View Citation

Soliman 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. — View Citation

Outcome

Type Measure Description Time frame Safety issue
Primary Introduction of arms pcr in diagnosis . To introduce the ARMS PCR as a cheap and simple DNA diagnostic tool for any point mutation 2 years
Primary Database initation . Initiating database of haemoglobinopathesis by registering data. 2 years
See also
  Status Clinical Trial Phase
Completed NCT00069862 - Iron Balance Study of DFO and GT56-252 in Patients With Transfusional Iron Overload Secondary to Beta-Thalassemia Phase 1/Phase 2
Completed NCT00733811 - Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Phase 4
Completed NCT05506358 - Evaluation of Low-cost Techniques for Detecting Sickle Cell Disease and β-thalassemia in Nepal and Canada N/A
Withdrawn NCT04938635 - Efficacy and Safety Study of Multiple Doses of VIT-2763 in Adults With Transfusion-dependent Beta-thalassemia Phase 2
Active, not recruiting NCT03655678 - A Safety and Efficacy Study Evaluating CTX001 in Subjects With Transfusion-Dependent β-Thalassemia Phase 2/Phase 3
Completed NCT06239389 - Comparison Of Efficacy And Safety Of Thalidomide Vs Hydroxyurea In Thalassemia Patients: A Single-Centre Pilot Study. Phase 2
Recruiting NCT05635266 - Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives
Completed NCT03271541 - A Study of Bitopertin (RO4917838) in Adults With Non-Transfusion-Dependent (NTD) Beta-Thalassemia Phase 2
Terminated NCT02274233 - Safety and Pharmacokinetic Study of Escalating Doses of SP-420, an Iron Chelator, in Patients With β-Thalassemia Phase 1
Completed NCT01206075 - Evaluating the Safety and Effectiveness of Mozobil Mobilization in Adults With Beta-Thalassemia Major N/A
Recruiting NCT05567458 - A Study to Evaluate Luspatercept (ACE-536) in Chinese Participants Who Require Regular Red Blood Cell Transfusions Due to Beta (β)-Thalassemia. Phase 2
Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Completed NCT03961828 - Hyalornic Acid Level in β-Thalassemic Children Treated for Hepatitis C Virus Phase 4
Recruiting NCT06065189 - Base-edited Autologous Hematopoietic Stem Cell Transplantation in Treating Patients With β-thalassemia Major Early Phase 1
Recruiting NCT04143724 - Study of Safety & PK of Luspatercept (ACE-536) in Pediatric Participants With Beta (β)-Thalassemia Phase 2
Terminated NCT03381833 - A Study With LJPC-401 for the Treatment of Myocardial Iron Overload in Patients With Transfusion-Dependent Beta Thalassemia Phase 2
Not yet recruiting NCT01996683 - Efficacy and Safety of Efficacy and Safety of Continued Iron Chelation Therapy In Poly-transfused Thalassemia Patients With Low Serum Ferritin (< 500 ng/ml) N/A
Completed NCT02268409 - ACE-536 Extension Study - Beta Thalassemia Phase 2
Active, not recruiting NCT01016093 - Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients Phase 2/Phase 3
Completed NCT01039636 - Safety and Pharmacokinetic Study of Escalating Multiple Doses of an Iron Chelator in Patients With Iron Overload Phase 1