Study of the Role of Genetic Modifiers in Hemoglobinopathies

NCT05799118 · tracked via the Priya Life Science Belgium tracker

Sponsor

Cyprus Institute of Neurology and Genetics

Phase

Observational

Started

2022-10-01

Last updated

2024-03-20

Condition(s) studied

Sickle Cell DiseaseThalassemia, BetaThalassemia AlphaHemoglobinopathies

Investigational drug(s) / intervention(s)

GWAS

GWAS: 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.

Study summary

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

Eligibility

Sex

ALL

Min age

2 Years

Max age

—

Healthy volunteers

Inclusion Criteria: * 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 Criteria: * 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.

Primary outcome measure(s)

Genetic modifiers in haemoglobinopathies through GWAS — 5 years
Number of genetic variants (SNPs) associated with disease-specific phenotypes

Trial sites (26)

Facility	City	Region	Status
Boston Children's Hospital	Boston	Massachusetts	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

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A Dose-Finding Study of Tebapivat to Assess Efficacy, and Safety in Participants With Sickle Cell Disease (SCD) Active, not recruiting

A Study Evaluating the Efficacy and Safety of Mitapivat (AG-348) in Participants With Sickle Cell Disease (RISE UP) Active, not recruiting

A Study to Evaluate How Well Etavopivat Works in People With Sickle Cell Disease Recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05799118 on ClinicalTrials.gov ↗ ← All trials in Belgium