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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Study of the Role of Genetic Modifiers in Hemoglobinopathies
At a glance
Conditions
Where it's being run
26 sites across 16 statesStudy leadership
- Petros Kountouris, PhD · PRINCIPAL_INVESTIGATOR · Cyprus Institute of Neurology and Genetics
Who to contact
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Do you actually qualify for this trial?
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Inclusion
Exclusion
What this trial measures
- Genetic modifiers in haemoglobinopathies through GWAS5 years
Number of genetic variants (SNPs) associated with disease-specific phenotypes