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1000SGP: Sickle Cell Genome Project

About this study

Sickle cell disease (SCD) is a blood problem caused by a gene change (DNA) that is passed down through families (inherited). The change affects the shape of red blood cells, making it harder for red blood cells to move through blood vessels. This can block blood flow and cause pain, organ damage, and other health issues. Everyone with SCD has the same main gene change, but the disease affects people in different ways. Some people have mild problems, while others have very serious ones. Scientists want to learn why this happens. 

To find answers, researchers will study the DNA of blood samples already collected from people with SCD. The researchers will use special DNA sequencing tests called whole genome sequencing (WGS) and whole exome sequencing (WES). Scientists hope to find changes in DNA that make health problems from the disease worse or easier in different people. This could help doctors predict which patients might have more problems and discover new ways to treat SCD. 

The study uses blood and DNA samples from people who agreed to share them for research. These samples come from other St. Jude studies, including TBANK and  SCCRIP. The 1000SGP study includes both children and adults. Researchers will also look at health records to learn about symptoms, treatments, and test results. This helps them connect the gene changes of patients to the health problems that happen. 

If researchers find something in the DNA that could affect a patient’s health, and the patient or family said they want to know, the study team will contact them and offer genetic counseling. Most results will not be shared right away because they need to be proven useful and correct. Over time, this research could help doctors understand SCD better and improve care for people who have it. 

Eligibility overview

  • Diagnosed with sickle cell disease (any genotype) 
  • Blood or DNA sample collected under one of these St. Jude studies: TBANK, SCCRIP, MIDAS, ELYSIS, or HUSTLE 
  • Health record information from the original study must be available for use 

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The above information is intended to provide only a basic description about a research protocol that may be currently active at St. Jude. The details made available here may not be the most up-to-date information on protocols used by St. Jude. To receive full details about a protocol and its status and or use at St. Jude, a physician must contact St. Jude directly.

Overview

Full title:

1000 Sickle Genome Project (Prospective and Retrospective Biorepository Samples)

Study goal:

To study genetic changes that affect sickle cell disease and learn why the disease affects people differently

Diagnosis:

Sickle cell disease

Age:

Infants to adults

Clinical trial categories:

Sickle Cell Disease

For physicians and researchers

Patients accepted to St. Jude must be referred by a physician or other qualified medical professional. Learn how St. Jude can partner with you to care for your patient.

 

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