Recruiting

Genetic Modifiers

Sponsor:

Cyprus Institute of Neurology and Genetics

Code:

NCT05799118

Conditions

Sickle Cell Disease

Thalassemia, Beta

Thalassemia Alpha

Hemoglobinopathies

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

Interventions

GWAS

Study Details

Brief summary:

This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).

Conditions

Sickle Cell Disease

Thalassemia, Beta

Thalassemia Alpha

Hemoglobinopathies

Study ID

NCT05799118

Start date

Oct 1, 2022

Status verified date

Mar, 2024

Completion date

Sep 30, 2027

Anticipated

Primary completion date

Sep 30, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

30000 participants

Anticipated

Interventions and Outcome Measures

Arms

Cohort

Individuals with hemoglobinopathies

Interventions

GWAS

The 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.

Primary outcome measure

  • Genetic modifiers in haemoglobinopathies through GWAS [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Petros Kountouris, PhD

22392623admin@inherentnetwork.org

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

More Information

Sponsor

Cyprus Institute of Neurology and Genetics

Last update posted

Mar 20, 2024

Last verified

Mar, 2024

Keywords

  • GWAS
  • thalassemia
  • sickle cell disease
  • genetic modifiers

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Cyprus Institute of Neurology and Genetics on 2024-03-20.