Study of the Role of Genetic Modifiers in Hemoglobinopathies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2+
SponsorCyprus Institute of Neurology and Genetics
About this trial
This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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.
Trial population
Individuals diagnosed with an inherited hemoglobinopathy and are under regular follow-up in the participating centers
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
GWAS
GeneticThe study will perform a GWAS experiments for all recruited subjects. The blood sample will be collected during routine clinical visits, only if DNA is not already available in existing biobanks. All individuals will provide consent for participation in the study.
Treatment groups
30,000 Participants
are divided into 1 treatment groupGroup A: Cohort1 intervention
Trial outcomes
Primary outcomes
1
Genetic modifiers in haemoglobinopathies through GWAS
Number of genetic variants (SNPs) associated with disease-specific phenotypes
Time frame
5 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov