Collects samples and health information to study genes in blood diseases
Collects blood and other samples from people with blood diseases and relatives for genetic research.
Key facts
- Who runs it
- St. Jude Children's Research Hospital
- Where
- Memphis, United StatesSee the site
- Trial code
- Registry title
- Investigation of the Genetics of Hematologic Diseases
- Status
- Recruiting
- People taking part
- 1,716 people, planned
- Started
- 17 Jun 2016
- Expected to end
- Jul 2050
- Type of study
- Observational
- Record updated
- 9 June 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people with a non-cancerous blood disease, MDS or MPN who get treatment or expert advice, and for their blood relatives. It collects samples and health information for genetic research.
- Sex
- All sexes can join.
- Disease stage
- A non-malignant blood disorder, MDS or MPN.
The registry criteria, word for word
Show all 3 criteriaShow less
Who can take part
- 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
Who cannot take part
- None
Where in United States
- St. Jude Children's Research HospitalMemphis, United StatesContact: Marcin Wlodarski, MD, PhDTaking people
About the trial
What the trial wants to find out
The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases. This is not a therapeutic or diagnostic protocol for clinical purposes. Blood, bone marrow, hair follicles, nail clippings, urine, saliva and buccal swabs, left over tissue, as well as health information will be used to study and learn about blood diseases by using genetic and/or genomic research. In general, genetic research studies specific genes of an individual; genomic research studies the complete genetic makeup of an individual.
Read full original descriptionShow less
It is not known why many people have blood diseases, because not all genes causing these diseases have been found. It is also not known why some people with the same disease are sicker than others, but this may be related to their genes. By studying the genomes in individuals with blood diseases and their family members, the investigators hope to learn more about how diseases develop and respond to treatment which may provide new and better ways to diagnose and treat blood diseases.
Primary Objective:
* Establish a repository of DNA and cryopreserved blood cells with linked clinical information from individuals with non-malignant blood diseases and biologically-related family members, in conjunction with the existing St. Jude biorepository, to conduct genomic and functional studies to facilitate secondary objectives.
Secondary Objectives:
* Utilize next generation genomic sequencing technologies to Identify novel genetic alternations that associate with disease status in individuals with unexplained non-malignant blood diseases. * Use genomic approaches to identify modifier genes in individuals with defined monogenic non-malignant blood diseases. * Use genomic approaches to identify genetic variants associated with treatment outcomes and toxicities for individuals with non-malignant blood disease. * Use single cell genomics, transcriptomics, proteomics and metabolomics to investigate biomarkers for disease progression, sickle cell disease (SCD) pain events and the long-term cellular and molecular effects of hydroxyurea therapy. * Using longitudinal assessment of clinical and genetic, study the long-term outcomes and evolving genetic changes in non-malignant blood diseases.
Exploratory Objectives
* Determine whether analysis of select patient-derived bone marrow hematopoietic progenitor/stem (HSPC) cells or induced pluripotent stem (iPS) cells can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms. * Determine whether analysis of circulating mature blood cells and their progenitors from selected patients with suspected or proven genetic hematological disorders can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms.
The group in the trial
- Study Participants
Participants will be (1) individuals with a non-malignant hematologic disorder confirmed or suspected to have a genetic basis, and (2) affected and unaffected family members of those individuals who are willing to provide clinical data and undergo genetic testing.
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Investigation of the Genetics of Hematologic Diseases
- Plain-language title
- Collects samples and health information to study genes in blood diseasesGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Record updated
- 9 June 2026