Looks for genes that affect sickle cell disease and thalassemia
Studies genetic differences in people with sickle cell disease or thalassemia.
Plain-language title generated from the registry record
Registry title: Study of the Role of Genetic Modifiers in Hemoglobinopathies
Key facts
- Where
- Madrid, SpainSee the site
Where in Spain
- Hospital Clínico San CarlosMadrid, SpainNot yet recruiting
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Cyprus Institute of Neurology and Genetics
- Trial code
- NCT05799118
- Record updated
- 20 March 2024
- Original description
This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).Read full original descriptionShow less
Study of the Role of Genetic Modifiers in Hemoglobinopathies
This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).
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.