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Investigating genetic factors in blood disorders

Study of the Role of Genetic Modifiers in Hemoglobinopathies

Observational Cyprus Institute of Neurology and Genetics · NCT05799118

This study is trying to find out how genes affect blood disorders like sickle cell disease and thalassemia by looking at the DNA of many people with these conditions.

Quick facts

Study typeObservational
Enrollment30000 (estimated)
Ages2 Years and up
SexAll
SponsorCyprus Institute of Neurology and Genetics Academic / other
Locations26 sites (Boston, Massachusetts and 25 other locations)
Trial IDNCT05799118 on ClinicalTrials.gov

What this trial studies

This observational study aims to explore the role of genetic modifiers in hemoglobinopathies, such as sickle cell disease and thalassemia, through a large-scale genome-wide association study (GWAS). By utilizing SNP chips, the study will analyze the genetic profiles of individuals with these conditions to identify new genetic modifiers and validate previously reported ones. The research will also standardize phenotypic descriptions and develop risk scores for patient stratification, addressing the limitations of earlier studies with small sample sizes. The study promotes participation from diverse populations worldwide to enhance the understanding of these diseases.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 2 years and older with a clinical diagnosis of inherited hemoglobinopathy, such as sickle cell disease or thalassemia.

Not a fit: Patients who have undergone stem cell transplantation or genetic therapy may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved treatment recommendations and risk stratification for patients with hemoglobinopathies.

How similar studies have performed: Previous studies have identified some genetic modifiers, but this large-scale approach is novel and aims to overcome the limitations of earlier research.

Eligibility criteria

Show full inclusion / exclusion criteria 
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.

Where this trial is running

Boston, Massachusetts and 25 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Sickle Cell DiseaseThalassemia, BetaThalassemia AlphaHemoglobinopathiesGWASthalassemiasickle cell diseasegenetic modifiers
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.