<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03822585</url>
  </required_header>
  <id_info>
    <org_study_id>Thalassemia Carriers</org_study_id>
    <nct_id>NCT03822585</nct_id>
  </id_info>
  <brief_title>Detection Of β-thalassemia Carriers In Assiut</brief_title>
  <official_title>Detection of β-thalassemia Carriers Among Close Relatives of β-thalassemia Children Attending Assiut University Children Hospital</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Assiut University</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Assiut University</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Thalassemia is different in kids with microcytic hypochromic anemia than general population&#xD;
      because there is a confusion between symptoms of thalassemia and iron deficiency anemia in&#xD;
      kids and both of them differ in management and prognosis. otherwise the most commonest causes&#xD;
      of microcytic hypochromic anemia in kids are iron deficiency anemia and thalassemia and both&#xD;
      of them are more common in kids than in general population.&#xD;
&#xD;
      Thalassemia is different in Egypt than anywhere in the world because there is no accurate&#xD;
      estimation of incidence and prevalence of such dangerous disease in Egypt inspite of many&#xD;
      cases attending thalassemia center (hundreds) and this disease is autosomal recessive and its&#xD;
      incidence can be minimized by detection of carrier cases by gene study hopping that to be&#xD;
      done as a routine premarital investigation.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The term &quot;thalassemia&quot; is derived from the Greek words &quot;Thalassa&quot;(sea) and &quot;Haema&quot; (blood)&#xD;
      and refers to disorder associated with defective synthesis of α or β-globin subunits of&#xD;
      haemoglobin HbA&#xD;
&#xD;
      There are two main types of thalassemia:&#xD;
&#xD;
      α-thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the&#xD;
      reduced or absent production of the alpha globin chains. Alpha-thalassemia is prevalent in&#xD;
      tropical and subtropical world regions where malaria was and still is epidemic, but as a&#xD;
      consequence of the recent massive population migrations, alpha-thalassemia has become a&#xD;
      relatively common clinical problem in North America, North Europe, and Australia&#xD;
&#xD;
      β-thalassemia syndromes are a group of hereditary blood disorders characterized by reduced or&#xD;
      absent beta globin chain synthesis, resulting in reduced Hb in red blood cells (RBC),&#xD;
      decreased RBC production and anemia. Most thalassemias are inherited as recessive traits. The&#xD;
      phenotypes of homozygous or genetic heterozygous compound β-thalassemias include thalassemia&#xD;
      major and thalassemia intermedia. Individuals with thalassemia major usually come for medical&#xD;
      attention within the first two years of life and require regular RBC transfusions to survive.&#xD;
      Thalassemia intermedia include patients who present later and do not require regular&#xD;
      transfusion. Except in the rare dominant forms, heterozygous β-thalassemia results in the&#xD;
      clinically silent carrier state. HbE/ β-thalassemia and HbC/ β-thalassemia exhibit a great&#xD;
      range in terms of diversity of phenotypes and spectrum of severity. People who are carriers&#xD;
      of the disease received variant genes from one parent and normal gene from the other parent&#xD;
&#xD;
      Thalassemia is widespread throughout ,they are more prevalent in people living in South-East&#xD;
      Asia, South Asia, Middle East, and Mediterranean regions&#xD;
&#xD;
      Thalassemia is the most common form of inherited anemia worldwide. The World Health&#xD;
      Organization reports suggest that about 60,000 infants are born with a major thalassemia&#xD;
      every year. Although individuals originating from the tropical belt are most at risk, it is a&#xD;
      growing global health problem due to extensive population migrations&#xD;
&#xD;
      Population migration and intermarriage between different ethnic groups has introduced&#xD;
      thalassemia in almost every country of the world&#xD;
&#xD;
      In Egypt, β -thalassemia is the most common type with a carrier rate varying from 5.3 to 9%&#xD;
      and a gene frequency of 0.03. So, it was estimated that 1,000/1.5 million per year live&#xD;
      births will suffer from thalassemia disease in Egypt (total live births 1,936,205 in 2006)&#xD;
&#xD;
      β Thalassemia creates a social and financial burden for the patients' family and the Egyptian&#xD;
      government. The high frequency of beta-thalassemia carriers with increasing rate of newly&#xD;
      born cases is a pressing reason for the importance to develop prevention program for&#xD;
      beta-thalassemia in Egypt&#xD;
&#xD;
      The thalassaemia syndromes, particularly those requiring multiple blood transfusions, are a&#xD;
      serious burden on health services and a problem which may be increasing on a global scale .&#xD;
      Even milder syndromes, known as thalassaemia intermedia or non-transfusion dependent&#xD;
      thalassaemia, require careful follow up since complications are expected over time in the&#xD;
      natural course of the disease&#xD;
&#xD;
      The need for lifelong follow up and care and the occurrence of complications affecting major&#xD;
      organs such as liver, heart and endocrine glands, creates the need for organised expert&#xD;
      services and also the need for major resources in terms of essential drugs and donated blood&#xD;
      for transfusions. In terms of clinical outcomes, The investigator expect that patients will&#xD;
      survive with the best possible quality of life, if treated holistically in an expert centre&#xD;
&#xD;
      Detection of asymptomatic carriers by reliable laboratory methods is the cornerstone of&#xD;
      prevention of this serious health problem. high performance liquid chromatography (HPLC) has&#xD;
      become the preferred technique, as it can detect most of the clinically significant variants.&#xD;
      The simplicity of the automated system with internal sample preparation, superior resolution,&#xD;
      rapid assay time, and accurate quantification of hemoglobin fractions makes this an ideal&#xD;
      methodology for the routine clinical laboratory&#xD;
&#xD;
      Commonly occurring mutations of the HBB gene are detected by a number of polymerase chain&#xD;
      reaction (PCR)-based procedures. The most commonly used methods are reverse dot blot analysis&#xD;
      or primer-specific amplification with a set of probes or primers complementary to the most&#xD;
      common mutations in the population from which the affected individual originated&#xD;
&#xD;
      Other methods based on real-time PCR or microarray technology because of their&#xD;
      reproducibility, rapidity, and easy handling are potentially suitable for the routine&#xD;
      clinical laboratory&#xD;
&#xD;
      If targeted mutation analysis fails to detect the mutation, scanning or sequence analysis can&#xD;
      be used. Sensitivity of both mutation scanning and sequence analysis is 99%. In the meantime,&#xD;
      the presence of an extended deletion should be investigated by using multiplex&#xD;
      ligation-dependent probe amplification (MPLA)&#xD;
&#xD;
      Screening for genetic diseases aims to reduce the burden of these disorders on individuals by&#xD;
      identifying those at increased risk, thereby enabling individuals to receive information&#xD;
      about personal health, future health and/or potential health of offspring&#xD;
&#xD;
      At risk individuals must be provided with information regarding the mode of inheritance, the&#xD;
      genetic risk of having affected children and the natural history of the disease including the&#xD;
      available treatment and therapies under investigation&#xD;
&#xD;
      Several countries have set up comprehensive national prevention programs, which include&#xD;
      public awareness and education, carrier screening, and counseling, as well as information on&#xD;
      prenatal diagnosis and preimplantation diagnosis. These countries are Italy, Greece, Cyprus,&#xD;
      UK, France, Iran, Thailand, Australia, Singapore, Taiwan, Hong Kong, and Cuba&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Not yet recruiting</last_known_status>
  <start_date type="Anticipated">March 2019</start_date>
  <completion_date type="Anticipated">June 2021</completion_date>
  <primary_completion_date type="Anticipated">December 2019</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>N/A</allocation>
    <intervention_model>Single Group Assignment</intervention_model>
    <intervention_model_description>Close Relatives Of β-Thalassemia Will Do Laboratory Tests</intervention_model_description>
    <primary_purpose>Prevention</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>detection of thalassemia carriers in children with microcytic hypochromic anemia</measure>
    <time_frame>2 years</time_frame>
    <description>accurate detection of prevalence rate of thalassemia carriers among relatives of β-thalassemia</description>
  </primary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Anticipated">100</enrollment>
  <condition>Beta-Thalassemia</condition>
  <arm_group>
    <arm_group_label>Close Relatives Of β-thalassemia</arm_group_label>
    <arm_group_type>Other</arm_group_type>
    <description>Laboratory diagnostic tests as (CBC, Iron Study, Serum Ferritin, HPLC, Genetic study) will be done to Brothers, Sisters &amp; Cousins of β-thalassemia Children With Microcytic Hypochromic Anemia Attending Assiut University Child Hospital</description>
  </arm_group>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>CBC, Iron Study, Serum Ferrittin, HPLC,Genitic Study</intervention_name>
    <description>high performance liquid chromatography (HPLC) has become the preferred technique, as it can detect most of the clinically significant variants. polymerase chain reaction (PCR)-based procedures detect Commonly occurring mutations of the HBB gene .&#xD;
If targeted mutation analysis fails to detect the mutation, scanning or sequence analysis can be used. Sensitivity of both mutation scanning and sequence analysis is 99%.</description>
    <arm_group_label>Close Relatives Of β-thalassemia</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Close Relatives Of B-Thalassemia Carriers With Microcytic Hypochromic Anemia&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Normocytic Normochromic Anemia&#xD;
&#xD;
          -  Iron Deficiency Anemia&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>1 Year</minimum_age>
    <maximum_age>18 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Mohammed HM Ghazally, PROF</last_name>
    <role>Study Director</role>
    <affiliation>Assiut University Child Hospital</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Shimaa MR Abdelhakeem, MD</last_name>
    <phone>+201025713965-+96567773851</phone>
    <email>shimaaradi2007@yahoo.com</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Ahmed MR Abdelhakeem</last_name>
    <phone>+201003127990</phone>
    <email>hmradi30@gmail.com</email>
  </overall_contact_backup>
  <verification_date>January 2019</verification_date>
  <study_first_submitted>January 27, 2019</study_first_submitted>
  <study_first_submitted_qc>January 28, 2019</study_first_submitted_qc>
  <study_first_posted type="Actual">January 30, 2019</study_first_posted>
  <last_update_submitted>January 28, 2019</last_update_submitted>
  <last_update_submitted_qc>January 28, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">January 30, 2019</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Assiut University</investigator_affiliation>
    <investigator_full_name>Shimaa Mohammed Radi Abdelhakeem</investigator_full_name>
    <investigator_title>Principal Investigator</investigator_title>
  </responsible_party>
  <keyword>HbA2, HPLC</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Thalassemia</mesh_term>
    <mesh_term>beta-Thalassemia</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
    <ipd_description>There is a plan to make IPD and related data dictionaries available</ipd_description>
    <ipd_info_type>Study Protocol</ipd_info_type>
    <ipd_info_type>Statistical Analysis Plan (SAP)</ipd_info_type>
    <ipd_info_type>Informed Consent Form (ICF)</ipd_info_type>
    <ipd_info_type>Clinical Study Report (CSR)</ipd_info_type>
    <ipd_info_type>Analytic Code</ipd_info_type>
    <ipd_time_frame>data will become available in January 2021 for unlimited years</ipd_time_frame>
    <ipd_access_criteria>Through finding the research in the site of ClinicalTrials.gov</ipd_access_criteria>
    <ipd_url>http://shimaaradi2007@yahoo.com</ipd_url>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03822585
org study id: Thalassemia Carriers
nct id: NCT03822585
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Thalassemia is different in kids with microcytic hypochromic anemia than general population
      because there is a confusion between symptoms of thalassemia and iron deficiency anemia in
      kids and both of them differ in management and prognosis. otherwise the most commonest causes
      of microcytic hypochromic anemia in kids are iron deficiency anemia and thalassemia and both
      of them are more common in kids than in general population.

      Thalassemia is different in Egypt than anywhere in the world because there is no accurate
      estimation of incidence and prevalence of such dangerous disease in Egypt inspite of many
      cases attending thalassemia center (hundreds) and this disease is autosomal recessive and its
      incidence can be minimized by detection of carrier cases by gene study hopping that to be
      done as a routine premarital investigation.
The term "thalassemia" is derived from the Greek words "Thalassa"(sea) and "Haema" (blood)
      and refers to disorder associated with defective synthesis of α or β-globin subunits of
      haemoglobin HbA

      There are two main types of thalassemia:

      α-thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the
      reduced or absent production of the alpha globin chains. Alpha-thalassemia is prevalent in
      tropical and subtropical world regions where malaria was and still is epidemic, but as a
      consequence of the recent massive population migrations, alpha-thalassemia has become a
      relatively common clinical problem in North America, North Europe, and Australia

      β-thalassemia syndromes are a group of hereditary blood disorders characterized by reduced or
      absent beta globin chain synthesis, resulting in reduced Hb in red blood cells (RBC),
      decreased RBC production and anemia. Most thalassemias are inherited as recessive traits. The
      phenotypes of homozygous or genetic heterozygous compound β-thalassemias include thalassemia
      major and thalassemia intermedia. Individuals with thalassemia major usually come for medical
      attention within the first two years of life and require regular RBC transfusions to survive.
      Thalassemia intermedia include patients who present later and do not require regular
      transfusion. Except in the rare dominant forms, heterozygous β-thalassemia results in the
      clinically silent carrier state. HbE/ β-thalassemia and HbC/ β-thalassemia exhibit a great
      range in terms of diversity of phenotypes and spectrum of severity. People who are carriers
      of the disease received variant genes from one parent and normal gene from the other parent

      Thalassemia is widespread throughout ,they are more prevalent in people living in South-East
      Asia, South Asia, Middle East, and Mediterranean regions

      Thalassemia is the most common form of inherited anemia worldwide. The World Health
      Organization reports suggest that about 60,000 infants are born with a major thalassemia
      every year. Although individuals originating from the tropical belt are most at risk, it is a
      growing global health problem due to extensive population migrations

      Population migration and intermarriage between different ethnic groups has introduced
      thalassemia in almost every country of the world

      In Egypt, β -thalassemia is the most common type with a carrier rate varying from 5.3 to 9%
      and a gene frequency of 0.03. So, it was estimated that 1,000/1.5 million per year live
      births will suffer from thalassemia disease in Egypt (total live births 1,936,205 in 2006)

      β Thalassemia creates a social and financial burden for the patients' family and the Egyptian
      government. The high frequency of beta-thalassemia carriers with increasing rate of newly
      born cases is a pressing reason for the importance to develop prevention program for
      beta-thalassemia in Egypt

      The thalassaemia syndromes, particularly those requiring multiple blood transfusions, are a
      serious burden on health services and a problem which may be increasing on a global scale .
      Even milder syndromes, known as thalassaemia intermedia or non-transfusion dependent
      thalassaemia, require careful follow up since complications are expected over time in the
      natural course of the disease

      The need for lifelong follow up and care and the occurrence of complications affecting major
      organs such as liver, heart and endocrine glands, creates the need for organised expert
      services and also the need for major resources in terms of essential drugs and donated blood
      for transfusions. In terms of clinical outcomes, The investigator expect that patients will
      survive with the best possible quality of life, if treated holistically in an expert centre

      Detection of asymptomatic carriers by reliable laboratory methods is the cornerstone of
      prevention of this serious health problem. high performance liquid chromatography (HPLC) has
      become the preferred technique, as it can detect most of the clinically significant variants.
      The simplicity of the automated system with internal sample preparation, superior resolution,
      rapid assay time, and accurate quantification of hemoglobin fractions makes this an ideal
      methodology for the routine clinical laboratory

      Commonly occurring mutations of the HBB gene are detected by a number of polymerase chain
      reaction (PCR)-based procedures. The most commonly used methods are reverse dot blot analysis
      or primer-specific amplification with a set of probes or primers complementary to the most
      common mutations in the population from which the affected individual originated

      Other methods based on real-time PCR or microarray technology because of their
      reproducibility, rapidity, and easy handling are potentially suitable for the routine
      clinical laboratory

      If targeted mutation analysis fails to detect the mutation, scanning or sequence analysis can
      be used. Sensitivity of both mutation scanning and sequence analysis is 99%. In the meantime,
      the presence of an extended deletion should be investigated by using multiplex
      ligation-dependent probe amplification (MPLA)

      Screening for genetic diseases aims to reduce the burden of these disorders on individuals by
      identifying those at increased risk, thereby enabling individuals to receive information
      about personal health, future health and/or potential health of offspring

      At risk individuals must be provided with information regarding the mode of inheritance, the
      genetic risk of having affected children and the natural history of the disease including the
      available treatment and therapies under investigation

      Several countries have set up comprehensive national prevention programs, which include
      public awareness and education, carrier screening, and counseling, as well as information on
      prenatal diagnosis and preimplantation diagnosis. These countries are Italy, Greece, Cyprus,
      UK, France, Iran, Thailand, Australia, Singapore, Taiwan, Hong Kong, and Cuba
allocation: N/A
intervention model: Single Group Assignment
intervention model description: Close Relatives Of β-Thalassemia Will Do Laboratory Tests
primary purpose: Prevention
masking: None (Open Label)
measure: detection of thalassemia carriers in children with microcytic hypochromic anemia
time frame: 2 years
description: accurate detection of prevalence rate of thalassemia carriers among relatives of β-thalassemia
arm group label: Close Relatives Of β-thalassemia
arm group type: Other
description: Laboratory diagnostic tests as (CBC, Iron Study, Serum Ferritin, HPLC, Genetic study) will be done to Brothers, Sisters & Cousins of β-thalassemia Children With Microcytic Hypochromic Anemia Attending Assiut University Child Hospital
intervention type: Diagnostic Test
intervention name: CBC, Iron Study, Serum Ferrittin, HPLC,Genitic Study
description: high performance liquid chromatography (HPLC) has become the preferred technique, as it can detect most of the clinically significant variants. polymerase chain reaction (PCR)-based procedures detect Commonly occurring mutations of the HBB gene .
If targeted mutation analysis fails to detect the mutation, scanning or sequence analysis can be used. Sensitivity of both mutation scanning and sequence analysis is 99%.
arm group label: Close Relatives Of β-thalassemia
criteria: 
gender: All
minimum age: 1 Year
maximum age: 18 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Mohammed HM Ghazally, PROF
role: Study Director
affiliation: Assiut University Child Hospital
last name: Shimaa MR Abdelhakeem, MD
phone: +201025713965-+96567773851
email: shimaaradi2007@yahoo.com
last name: Ahmed MR Abdelhakeem
phone: +201003127990
email: hmradi30@gmail.com
responsible party type: Principal Investigator
investigator affiliation: Assiut University
investigator full name: Shimaa Mohammed Radi Abdelhakeem
investigator title: Principal Investigator
mesh term: Thalassemia
mesh term: beta-Thalassemia
sharing ipd: Yes
ipd description: There is a plan to make IPD and related data dictionaries available
ipd info type: Study Protocol
ipd info type: Statistical Analysis Plan (SAP)
ipd info type: Informed Consent Form (ICF)
ipd info type: Clinical Study Report (CSR)
ipd info type: Analytic Code
ipd time frame: data will become available in January 2021 for unlimited years
ipd access criteria: Through finding the research in the site of ClinicalTrials.gov
ipd url: http://shimaaradi2007@yahoo.com