The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients | NCT05133388

Studies
The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients

NCT05133388

Sponsor

Assiut University

Status

Unknown status

Last Update Posted

Jan 31, 2023Actual

Enrollment

150Estimated

Phase

Not provided

Conditions

Beta-Thalassemia

Interventions

ARMS PCR

Countries

Egypt

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jan 2023

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 30, 2023Actual

Primary Completion Date

Jun 2024Estimated

Completion Date

Oct 2024Estimated

First Submitted Date

Nov 3, 2021

First Submission Date that Met QC Criteria

Nov 12, 2021

First Posted Date

Nov 24, 2021Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 30, 2023

Last Update Posted Date

Jan 31, 2023Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Amira Saber Hamed Ahmed, ASHAhmed, Assiut UniversityPrincipal Investigator

Lead Sponsor

Assiut UniversityOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

150Estimated

Arms/Interventions Module

Arm Groups

Not provided

Interventions

Name	Type	Description	Arm Group Labels	Other Names
ARMS PCR	Genetic	ARMS PCR using primer pairs that only amplify individual alleles

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

β 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.

Accepts Healthy Volunteers

Not provided

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Assiut University Hospitals patients

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Amira Saber	Contact	01063954423		amirasaberh@gmail.com
Mohamed Samir	Contact

Overall Officials

Name	Affiliation	Role
Ola Afifi	Assiut University	Study Director

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Faculty of Medicine Assiut University	Recruiting	Asyut			Egypt

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
19497317	Background	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.
17365985	Background

ID	Term
D013789	Thalassemia
D000745	Anemia, Hemolytic, Congenital
D000743	Anemia, Hemolytic
D000740	Anemia