Study of the Role of Genetic Modifiers in Hemoglobinopathies

NCT05799118 | Recruiting

• 1 other identifier: 1
• Study Type: observational
• Target: 30,000
• Locations: 16 countries
• Sites: 26

Brief Summary

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

Conditions

Sickle Cell Disease; Thalassemia, Beta; Thalassemia Alpha; Hemoglobinopathies

Keywords

GWAS; thalassemia; sickle cell disease; genetic modifiers

Outcome Measures

Primary Outcomes (1)

• Genetic modifiers in haemoglobinopathies through GWAS

  Number of genetic variants (SNPs) associated with disease-specific phenotypes

  5 years

Study Arms (1)

Cohort

Individuals with hemoglobinopathies

Genetic: GWAS

Interventions

GWAS GENETIC

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.

Cohort

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals diagnosed with an inherited hemoglobinopathy and are under regular follow-up in the participating centers

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Cyprus Institute of Neurology and Genetics: lead

Study Sites (26)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Lucrecia Paím Maternity

Luanda, Angola

RECRUITING

University of Buenos Aires

Buenos Aires, Argentina

NOT YET RECRUITING

University Hospitals Leuven

Leuven, Belgium

NOT YET RECRUITING

Universiti Brunei Darussalam

Brunei, Brunei

NOT YET RECRUITING

Larnaca General Hospital

Larnaca, Cyprus

RECRUITING

Limassol General Hospital

Limassol, Cyprus

RECRUITING

Archbishop Makarios III Hospital

Nicosia, Cyprus

RECRUITING

Paphos General Hospital

Paphos, Cyprus

RECRUITING

Centre Hospitalier Monkole

Kinshasa, Democratic Republic of the Congo

RECRUITING

Rigshospitalet

Copenhagen, Denmark

RECRUITING

Hippokrateio Hospital of Athens

Athens, Greece

RECRUITING

Laiko General Hospital

Athens, Greece

RECRUITING

National and Kapodistrian University of Athens

Athens, Greece

NOT YET RECRUITING

General Hospital of Larissa

Larissa, Greece

RECRUITING

Emek Medical Centre

Afula, Israel

NOT YET RECRUITING

University of Turin

Turin, Italy

NOT YET RECRUITING

Ampang Hospital

Ampang, Malaysia

RECRUITING

Universiti Kebangsaan Malaysia

Bangi, Malaysia

RECRUITING

Universiti Sains Malaysia

Kota Bharu, Malaysia

RECRUITING

University of Abuja

Abuja, Nigeria

RECRUITING

Kaduna State University

Kaduna, Nigeria

RECRUITING

Ahmadu Bello University

Zaria, Nigeria

RECRUITING

University of Lahore

Lahore, Pakistan

NOT YET RECRUITING

Centro Hospitalar e Universitário de Coimbra

Coimbra, Portugal

NOT YET RECRUITING

Hospital Clínico San Carlos

Madrid, Spain

NOT YET RECRUITING

Related Publications (1)

• Kountouris P, Stephanou C, Archer N, Bonifazi F, Giannuzzi V, Kuo KHM, Maggio A, Makani J, Manu-Pereira MDM, Michailidou K, Nkya S, Nnodu OE, Trompeter S, Tshilolo L, Wonkam A, Zilfalil BA, Inusa BPD, Kleanthous M; on behalf of the International Hemoglobinopathy Research Network (INHERENT). The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies. Am J Hematol. 2021 Nov 1;96(11):E416-E420. doi: 10.1002/ajh.26323. Epub 2021 Aug 30. No abstract available.

  PMID: 34406671 BACKGROUND

Related Links

• Official INHERENT website

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood samples

MeSH Terms

Conditions

Anemia, Sickle Cell; beta-Thalassemia; alpha-Thalassemia; Hemoglobinopathies; Thalassemia

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Petros Kountouris, PhD

  Cyprus Institute of Neurology and Genetics

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Petros Kountouris, PhD

CONTACT

22392623; admin@inherentnetwork.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Scientist, Lead of the Biomedical and Translational Informatics Group, Molecular Genetics Thalassaemia Department

Study Record Dates

• First Submitted: March 10, 2023
• First Posted: April 5, 2023
• Study Start: October 1, 2022
• Primary Completion (Estimated): September 30, 2027
• Study Completion (Estimated): September 30, 2027
• Last Updated: March 20, 2024

Record last verified: 2024-03

Locations

BE (1); GR (4); AN (1); PA (1); BR (1); IT (1); NG (3); US (1); MY (3); DE (1); DK (1); AR (1); PT (1); ES (1); IL (1); CY (4)