Study of the Role of Genetic Modifiers in Hemoglobinopathies

Launched by CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS · Mar 22, 2023

Keywords

ClinConnect Summary

This clinical trial is studying how certain genetic factors might affect conditions like sickle cell disease and thalassemia, which are types of inherited blood disorders. Researchers will analyze genetic data from a diverse group of participants to understand how these genetic modifiers influence the severity and symptoms of these conditions. The goal is to find better ways to manage and treat patients with hemoglobinopathies.

If you or a family member has been diagnosed with an inherited blood disorder such as sickle cell disease or thalassemia and is at least 2 years old, you may be eligible to participate in this study. The trial is open to people of all genders and ethnic backgrounds. Participants will share their health information and provide genetic samples, but those who have undergone stem cell transplants or genetic therapies will not be included. This research could lead to important discoveries that help improve treatment options for individuals with these conditions in the future.

Gender

ALL

Eligibility 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.