Investigating genetic factors in blood disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting
• Lucrecia Paím Maternity
  Luanda, Angola Recruiting
• Larnaca General Hospital
  Larnaca, Cyprus Recruiting
• Limassol General Hospital
  Limassol, Cyprus Recruiting
• Archbishop Makarios III Hospital
  Nicosia, Cyprus Recruiting
• Paphos General Hospital
  Paphos, Cyprus Recruiting

Study contacts

• Principal investigator: Petros Kountouris, PhD — Cyprus Institute of Neurology and Genetics
• Study coordinator: Petros Kountouris, PhD
• Email: admin@inherentnetwork.org
• Phone: 22392623

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Donor transplant for high risk blood disorders

  This study is testing if a stem cell transplant from a matched sibling can help people with high-risk blood disorders like sickle cell disease and thalassemia feel better.

  Recruiting Phase 2 Masonic Cancer Center, University of Minnesota · Minneapolis, Minnesota · NCT06872333

• Immune suppression treatment for sickle cell disease and beta-thalassemia patients receiving stem cell transplants

  This study is testing if a new immune suppression treatment can help people with sickle cell disease or beta-thalassemia have better outcomes when they receive stem cell transplants.

  Recruiting at 6 sites Phase 2 Memorial Sloan Kettering Cancer Center · Basking Ridge, New Jersey and 5 other locations · NCT05736419

• Evaluating a single dose of CTX001 for treating transfusion-dependent beta-thalassemia and severe sickle cell disease

  This study is testing a single dose of a new treatment called CTX001 to see if it can help people with transfusion-dependent beta-thalassemia or severe sickle cell disease feel better.

  Recruiting at 6 sites Phase 3 Vertex Pharmaceuticals Incorporated · New York, New York and 5 other locations · NCT05477563

• Cerebrovascular Reactivity Testing with HD-DOT in Sickle Cell Patients

  This study tests whether high-density diffuse optical tomography can measure brain blood flow and oxygen use in people with sickle cell disease, to see how these signals relate to stroke risk.

  Recruiting Washington University School of Medicine · St Louis, Missouri · NCT07776444

• Adapting and testing PEN-Plus in Zambian primary care

  Aiming to see if the PEN-Plus package can be adapted and used in two Zambian hospitals to better manage chronic diseases like heart disease, diabetes, hypertension, and sickle cell in primary care.

  Recruiting Centre for Infectious Disease Research in Zambia · Lusaka, Lusaka Province · NCT07753681

• Newborn Sickle Cell Screening in Mozambique

  We’re testing a three-part plan to help babies in Mozambique get diagnosed early for sickle cell disease and start care quickly.

  Recruiting St. Jude Children's Research Hospital · Nhamatanda, Sofala · NCT07719972

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.