RecruitingNCT05799118

Study of the Role of Genetic Modifiers in Hemoglobinopathies


Sponsor

Cyprus Institute of Neurology and Genetics

Enrollment

30,000 participants

Start Date

Oct 1, 2022

Study Type

OBSERVATIONAL

Conditions

Summary

This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).


Eligibility

Min Age: 2 Years

Inclusion Criteria3

  • Clinical diagnosis of an inherited hemoglobinopathy, including sickle cell disease (SCD), β-thalassemia, and α-thalassemia; all genotypes will be considered.
  • Age ≥ 2 years old at the time of the collection of the phenotypic data.
  • There will be no limits on study participants in terms of gender, ethnicity, morbidities.

Exclusion Criteria3

  • Patients treated with stem cell transplantation or genetic therapy.
  • Age < 2 years old at the time of the collection of the phenotypic data.
  • Patient or legal representative for minors unwilling or unable to give consent.

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Interventions

GENETICGWAS

The study will perform a GWAS experiments for all recruited subjects. The blood sample will be collected during routine clinical visits, only if DNA is not already available in existing biobanks. All individuals will provide consent for participation in the study.


Locations(26)

Boston Children's Hospital

Boston, Massachusetts, United States

Lucrecia Paím Maternity

Luanda, Angola

University of Buenos Aires

Buenos Aires, Argentina

University Hospitals Leuven

Leuven, Belgium

Universiti Brunei Darussalam

Brunei, Brunei

Larnaca General Hospital

Larnaca, Cyprus

Limassol General Hospital

Limassol, Cyprus

Archbishop Makarios III Hospital

Nicosia, Cyprus

Paphos General Hospital

Paphos, Cyprus

Centre Hospitalier Monkole

Kinshasa, Democratic Republic of the Congo

Rigshospitalet

Copenhagen, Denmark

Hippokrateio Hospital of Athens

Athens, Greece

Laiko General Hospital

Athens, Greece

National and Kapodistrian University of Athens

Athens, Greece

General Hospital of Larissa

Larissa, Greece

Emek Medical Centre

Afula, Israel

University of Turin

Turin, Italy

Ampang Hospital

Ampang, Malaysia

Universiti Kebangsaan Malaysia

Bangi, Malaysia

Universiti Sains Malaysia

Kota Bharu, Malaysia

University of Abuja

Abuja, Nigeria

Kaduna State University

Kaduna, Nigeria

Ahmadu Bello University

Zaria, Nigeria

University of Lahore

Lahore, Pakistan

Centro Hospitalar e Universitário de Coimbra

Coimbra, Portugal

Hospital Clínico San Carlos

Madrid, Spain

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NCT05799118


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