NCT05133388

Brief 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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jan 2023

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 3, 2021

Completed
21 days until next milestone

First Posted

Study publicly available on registry

November 24, 2021

Completed
1.2 years until next milestone

Study Start

First participant enrolled

January 30, 2023

Completed
1.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2024

Completed
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2024

Completed
Last Updated

January 31, 2023

Status Verified

January 1, 2023

Enrollment Period

1.3 years

First QC Date

November 3, 2021

Last Update Submit

January 30, 2023

Conditions

Beta-Thalassemia

Outcome Measures

Primary Outcomes (2)

  • 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

  • Database initation .

    Initiating database of haemoglobinopathesis by registering data.

    2 years

Interventions

ARMS PCRGENETIC

ARMS PCR using primer pairs that only amplify individual alleles

Eligibility Criteria

Sexall
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Assiut University Hospitals patients

You may qualify if:

  • β thalassemia (suspected \& clinically diagnosed cases)

You may not qualify if:

  • Iron deficiency anaemia, anaemia of chronic disease, types of haemolytic anaemias other than thalassemia, other types of thalassemia and Hb variants.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Faculty of Medicine Assiut University

Asyut, Egypt

RECRUITING

Related Publications (7)

  • 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.

    PMID: 19497317BACKGROUND

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

    PMID: 17365985BACKGROUND

  • 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.

    PMID: 17365006BACKGROUND

  • 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.

    PMID: 20557680BACKGROUND

  • 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.

    PMID: 25408857BACKGROUND

  • 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.

    PMID: 25617386BACKGROUND

  • 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.

    PMID: 28276871BACKGROUND

MeSH Terms

Conditions

beta-Thalassemia

Condition Hierarchy (Ancestors)

ThalassemiaAnemia, Hemolytic, CongenitalAnemia, HemolyticAnemiaHematologic DiseasesHemic and Lymphatic DiseasesHemoglobinopathiesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Ola Afifi

    Assiut University

    STUDY DIRECTOR

Central Study Contacts

Amira Saber

CONTACT

01063954423amirasaberh@gmail.com

Mohamed Samir

CONTACT

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
ASHAhmed

Study Record Dates

First Submitted

November 3, 2021

First Posted

November 24, 2021

Study Start

January 30, 2023

Primary Completion

June 1, 2024

Study Completion

October 1, 2024

Last Updated

January 31, 2023

Record last verified: 2023-01

Locations

EG(1)