Study of Genetic Modifiers in Hemoglobinopathies

This study is looking into the role of genetic differences in conditions like sickle cell disease (SCD) and thalassemia. Researchers want to understand how these genetic differences affect how severe the disease is. You might be able to join if you have a clinical diagnosis of an inherited hemoglobinopathy, such as sickle cell disease or thalassemia, and are at least 2 years old. The study involves collecting a blood sample for genetic testing (GWAS). The main goal is to find new genetic factors that influence these conditions, which will be measured over 5 years. The current status of the study is unclear, and it aims to include 30,000 participants.

Study design
This is an observational study that plans to enroll 30,000 participants. It will use genetic testing (GWAS) to look at the genetic profiles of individuals with hemoglobinopathies.
What's involved
You would provide a blood sample during a routine clinical visit, if a DNA sample isn't already available from existing biobanks. You would also give your consent to participate.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, genetic modifiers, will be measured at 5 years.

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NCT05799118

Study of the Role of Genetic Modifiers in Hemoglobinopathies

Recruiting
Not specifiedAges 2+Observational
Cyprus Institute of Neurology and Genetics
~30,000 participants
Updated 2024-03-20 on ClinicalTrials.gov
What's tested:GWAS

At a glance

Recruiting sites
17 of 26 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Genetic modifiers in haemoglobinopathies through GWAS
Measured over 5 years
Sickle Cell Disease
Thalassemia, Beta
Thalassemia Alpha
Hemoglobinopathies
26 sites across 16 states
Cyprus4
Greece4
Malaysia3
Nigeria3
Massachusetts1
Angola1
Argentina1
Belgium1
  • Petros Kountouris, PhD · PRINCIPAL_INVESTIGATOR · Cyprus Institute of Neurology and Genetics

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Eligibility criteria

Inclusion

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

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.
  • Genetic modifiers in haemoglobinopathies through GWAS5 years

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