EKLF Gene Expression in β-thalassemia

NCT06440603 | Not Yet Recruiting

• 1 other identifier: β-thalassemia
• Study Type: observational
• Target: 150
• Locations: 0 countries
• Sites: N/A

Brief Summary

1. 1.Studying the effect of expression pattern of EKLF gene in β-thalassemic patients.
2. 2.Detecting the correlation between the gene expression of EKLF and the clinical phenotype of β-thalassemic patients.

Conditions

β-thalassemia

Outcome Measures

Primary Outcomes (1)

• study the expression pattern of EKLF gene in β-thalassemic patients, work by measuring mRNA levels

  study the expression pattern of EKLF gene by Real-time polymerase chain reaction (RT-qPCR) in β-thalassemic patients

  Baseline

Secondary Outcomes (1)

• study the correlation between the gene expression of EKLF and the clinical phenotype of β-thalassemic patients.

  Baseline

Study Arms (3)

Group I

Age and sex matched healthy Control

Diagnostic Test: PCR

Group 2

50 patients with β-thalassemia major

Diagnostic Test: PCR

Group 3

50 patients with β-thalassemia intermedia

Diagnostic Test: PCR

Interventions

PCR DIAGNOSTIC_TEST

Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) for detection of EKLF: * The method of total RNA extraction: TRIZOL and TRIZOL LS. * The purity and concentration of the RNA will be measured using Nano Drop 2000 instument. * cDNA will be done with primers using thr Goscript Reverse Transcription System

Group 2; Group 3; Group I

Eligibility Criteria

• Age: 5 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients \> 5 years diagnosed with β-thalassemia including both thalassemia major and intermedia

You may qualify if:

• patients with β-thalassemia (major and intermedia).
• patients are of both sexes (male or female) at any age

You may not qualify if:

• patients with any other types of hemolytic anaemia

Sponsors & Collaborators

• Rofaida Hassan Ahmed: lead

Related Publications (7)

• Sankaran VG, Orkin SH. The switch from fetal to adult hemoglobin. Cold Spring Harb Perspect Med. 2013 Jan 1;3(1):a011643. doi: 10.1101/cshperspect.a011643.

  PMID: 23209159 BACKGROUND

• Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed.

  PMID: 20098328 BACKGROUND

• Origa R. beta-Thalassemia. Genet Med. 2017 Jun;19(6):609-619. doi: 10.1038/gim.2016.173. Epub 2016 Nov 3.

  PMID: 27811859 BACKGROUND

• Yien YY, Bieker JJ. EKLF/KLF1, a tissue-restricted integrator of transcriptional control, chromatin remodeling, and lineage determination. Mol Cell Biol. 2013 Jan;33(1):4-13. doi: 10.1128/MCB.01058-12. Epub 2012 Oct 22.

  PMID: 23090966 BACKGROUND

• Borg J, Papadopoulos P, Georgitsi M, Gutierrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgur Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1.

  PMID: 20676099 BACKGROUND

• Elagooz R, Dhara AR, Gott RM, Adams SE, White RA, Ghosh A, Ganguly S, Man Y, Owusu-Ansah A, Mian OY, Gurkan UA, Komar AA, Ramamoorthy M, Gnanapragasam MN. PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin. Blood Adv. 2022 Dec 13;6(23):6016-6022. doi: 10.1182/bloodadvances.2021006730.

  PMID: 35667093 BACKGROUND

• Siatecka M, Soni S, Planutis A, Bieker JJ. Transcriptional activity of erythroid Kruppel-like factor (EKLF/KLF1) modulated by PIAS3 (protein inhibitor of activated STAT3). J Biol Chem. 2015 Apr 10;290(15):9929-40. doi: 10.1074/jbc.M114.610246. Epub 2015 Feb 24.

  PMID: 25713074 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Ethylenediamine tetra-acetic acid (EDTA) peripheral blood samples 3- Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) for detection of EKLF: * The method of total RNA extraction: TRIZOL and TRIZOL LS. * The purity and concentration of the RNA will be measured using Nano Drop 2000 instument. * cDNA will be done with primers using thr Goscript Reverse Transcription System

Study Officials

• Eman Naser Eldin

  Assiut University

  STUDY DIRECTOR

• Sherif Helmy

  Assiut University

  STUDY DIRECTOR

• Reem Elagoz

  Assiut University

  STUDY DIRECTOR

Central Study Contacts

Rofida Hassan

CONTACT

+2 1019935111; mahaseb_rofaida@yahoo.com

Eman Naser Eldin

CONTACT

01002677890; emannasr2000@yahoo.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principle investigator

Study Record Dates

• First Submitted: May 19, 2024
• First Posted: June 4, 2024
• Study Start: July 1, 2024
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): July 1, 2027
• Last Updated: June 4, 2024

Record last verified: 2024-05