Actively Recruiting
Investigation of the Genetics of Hematologic Diseases
Led by St. Jude Children's Research Hospital · Updated on 2025-11-04
1716
Participants Needed
1
Research Sites
521 weeks
Total Duration
On this page
Sponsors
S
St. Jude Children's Research Hospital
Lead Sponsor
B
Boston Children's Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying the genetics behind non-malignant blood diseases to better understand their causes and how they affect people differently. This observational study collects and stores various biological samples and health information from individuals with these blood disorders and their family members. The aim is to explore genetic and genomic factors that might explain disease development, progression, and treatment responses, using advanced technologies such as next-generation sequencing and single-cell analysis. Participants include individuals diagnosed or suspected to have genetic blood disorders and their biologically related family members. Samples collected include blood, bone marrow, hair follicles, nail clippings, urine, saliva, buccal swabs, and leftover tissue. Medical histories and family pedigrees are reviewed with genetics experts, and participants may be contacted annually for updated information. Biological family members provide blood samples to support genetic testing and research. During the study, participants provide samples at enrollment and periodically over time, sometimes yearly or as needed until July 2050. Researchers will analyze genetic variations, modifier genes, and biomarkers linked to disease status and treatment outcomes. The study measures include the percentage of participants agreeing to participate and the types of genetic alterations found. Participants' health and genetic data will be reviewed long-term to improve understanding of blood diseases.
CONDITIONS
Brief Title
Investigation of the Genetics of Hematologic Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals receiving therapy or expert consultation for a non-malignant hematologic disorder, myelodysplastic syndromes, or myeloproliferative neoplasms
- Biologically related family members of the individual, including first, second, or third degree relatives
- Willingness to provide clinical data and undergo genetic testing
You will not qualify if you...
- None
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - At study entry
Participants provide medical and family history information and undergo genetic counseling. Blood samples are collected for genomic studies, and additional bone marrow aspirates may be collected if clinically indicated.
1 to 2 visits depending on procedures
Duration - Up to 29 years
Participants are contacted annually for updates on medical and family history. Blood and bone marrow samples may be collected yearly and as needed to assess genetic changes over time.
Annual visits with blood draws and possible bone marrow aspirates
Trial Site Locations
Total: 1 location
1
St. Jude Children's Research Hospital
Memphis, Tennessee, United States, 38105
Actively Recruiting
Research Team
M
Marcin Wlodarski, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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