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NCT Number: NCT02720679

Investigation of the Genetics of Hematologic Diseases

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.

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.

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Key information

Conditions

Bone Marrow Failure Syndromes Anemia Anemia, Aplastic Anemia, Diamond-Blackfan Anemia, Hemolytic Anemia, Hemolytic, Congenital Anemia, Hypoplastic, Congenital Anemia, Sickle Cell Blood Coagulation Disorder Blood Coagulation Disorders Bone Marrow Diseases Bone Marrow Failure Disorders Congenital Abnormalities Congenital Bone Marrow Failure Syndromes Congenital Thrombocytopenia Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Diamond-Blackfan Anemia Dyskeratosis Congenita Erythrocyte Disorder Fanconi Anemia Genetic Diseases, Inborn Genetic Diseases, X-Linked Hematologic Diseases Hemic and Lymphatic Diseases Hemoglobinopathies Hemostasis Leukocyte Disorder Leukocyte Disorders Metabolic Diseases Myelodysplastic Syndromes Myeloproliferative Diseases Neutropenia, Severe Congenital, Autosomal Recessive 3 Nutritional and Metabolic Diseases Red-Cell Aplasia, Pure Severe Congenital Neutropenia Sickle Cell Disease Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

Location status: Recruiting

Location contact

Marcin Wlodarski, MD, PhD

CONTACT

[email protected]

888-226-4343

Marcin Wlodarski, MD, PhD

PRINCIPAL_INVESTIGATOR

About this study

Participants will be individuals (proband) receiving therapy or expert consultation regarding a non-malignant hematologic disorder. We propose to use genomics, transcriptomics, proteomics and metabolomic analysis coupled with family linkage studies to identify causal mutations in individuals with undefined hematologic disorders and to characterize genetic modifiers of defined monogenic blood diseases.

A detailed medical history will be obtained, including demographic information for each proband. For each identified biologically related family member, a medical history questionnaire will be obtained. The family history and pedigree will be reviewed in conjunction with a geneticist/genetic counselor. The implications of genetic testing will be explained. If participants consent for future contact, this will take place annually for updates on medical and family history.

All probands will provide peripheral blood samples, and probands who are undergoing a bone marrow aspirate/biopsy for clinical purposes will provide additional aspirates. Biological family members will provide peripheral blood samples as a source for DNA.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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 criteria

  • None

Treatment and study plan

Primary outcomes

  1. Percent of participants who agree to participate

    Time frame: Day 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.

Secondary outcomes

  1. Number by type of inherited genetic aberrations associated with hematologic disorders

    Time frame: Blood drawn at study entry, yearly and as needed until July 2050; and/or bone marrow aspirate at study entry, yearly and as needed until July 2050

    Germ-line DNA samples from study participants will be extracted and analyzed in order to identify inherited genetic aberrations associated with hematologic disorders. Specific modalities of genomic testing will be case specific. Relevant tests may involve SNP arrays to assess copy number variation, WGS, WES, targeted sequencing of specific candidate genes, DNA sequencing, RNA-sequencing, X-chromosome inactivation studies, ChIP sequencing and/or other tests. Genetic linkage analyses may be performed using a variety of technologies including high-density SNP arrays, WGS and specific analysis of selected target genes in validation studies.

  2. Number by type of modifier genes

    Time frame: Blood drawn at study entry, yearly, and as needed until July 2050; and/or bone marrow aspirate at study entry, yearly and as needed until July 2050.

    Investigators seek to identify modifier genes in individuals in the study population. Methods of analysis will be similar to those for Outcome Measure #2.

  3. Number by type of genetic variants

    Time frame: Blood drawn at study entry, yearly and as needed until July 2050; and/or bone marrow aspirate at study entry, yearly and as needed until July 2050.

    Investigators seek to identify genetic variants associated with treatment outcomes and toxicities in the study population. Methods of analysis will be similar to those for Outcome Measure #2.

Study contacts

Contact information is provided by the study sponsor or research team.

Marcin Wlodarski, MD, PhD

CONTACT

[email protected]

888-226-4343

Sponsors and collaborators

Lead sponsor

St. Jude Children's Research Hospital

Other

Collaborators

  • Baylor College of Medicine
  • Boston Children's Hospital
  • Children's Hospital of Philadelphia
  • Dana-Farber Cancer Institute
  • Monroe Carell Jr. Children's Hospital at Vanderbilt
  • University of Memphis

Registry information

Important dates

Study start
2016
Primary completion
2040
Study completion
2050
First posted
Mar 28, 2016
Registry last updated
Jun 9, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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