Back to search results

Investigation of the Genetics of Blood Diseases

This study aims to understand the causes and improve treatments for various blood diseases, including bone marrow failure syndromes and blood clotting disorders. Researchers will collect and store samples like blood, bone marrow, and saliva, along with your health information. This information will be used for genetic and genomic research, which looks at your specific genes and your complete genetic makeup, respectively. The goal is to find new genes that cause blood diseases and understand how existing genes affect these conditions. This is an observational study, meaning you won't receive new treatments as part of it. The study is looking for individuals with a non-malignant (non-cancerous) blood disorder, or their close biological relatives. The main goal is to see how many people agree to participate.

Study design
This is an observational study with a planned enrollment of 1716 participants. It is not specified if there are different phases or groups within the study.
What's involved
You would provide blood samples, and if you are having a bone marrow aspirate/biopsy for clinical reasons, additional aspirates. Biological family members would provide blood samples. You may be contacted annually for updates on medical and family history if you consent.
Compensation
Not stated in the trial record.
Follow-up
If you consent for future contact, this will take place annually for updates on medical and family history.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT02720679

Investigation of the Genetics of Hematologic Diseases

Recruiting
Not specifiedAll AgesObservational
St. Jude Children's Research Hospital
~1,716 participants
Updated 2026-06-09 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Percent of participants who agree to participate
Measured over Day 1, at enrollment

Conditions

Bone Marrow Failure Syndromes
Erythrocyte Disorder
Leukocyte Disorder
Hemostasis
Blood Coagulation Disorder
Sickle Cell Disease
Dyskeratosis Congenita
Diamond-Blackfan Anemia
Congenital Thrombocytopenia
Severe Congenital Neutropenia
Fanconi Anemia
Myelodysplastic Syndromes
Myeloproliferative Diseases

Explore related trials

Coagulation DisorderCongenital thrombocytopeniaDiamond-Blackfan AnemiaDyskeratosis CongenitaErythrocyte DisorderFanconi AnemiaHemostasisMyelodysplastic SyndromeMyeloproliferative NeoplasmSevere Congenital NeutropeniaSickle Cell DiseaseWhite blood cell disorder

Where it's being run

1 sites across 1 states
Tennessee1

Study leadership

  • Marcin Wlodarski, MD, PhD · PRINCIPAL_INVESTIGATOR · St. Jude Children's Research Hospital

Who to contact

Marcin Wlodarski, MD, PhD
[email protected]
888-226-4343
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

Do you actually qualify for this trial?

Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

Check eligibility for this trial ~2 min · HIPAA-protected · delete anytime
Eligibility criteria

Inclusion

An individual (proband) receiving therapy or expert consultation regarding a non-malignant hematologic disorder, MDS or MPN.
A biologically-related individual to the identified proband to include: first, second or third degree relatives.

Exclusion

None

What this trial measures

  • Percent of participants who agree to participateDay 1, at enrollment

    It is estimated that approximately 30% of participants (proband) approached for this study will agree to participate and that each proband will have approximately five biologically-related family members who agree to participate.