Investigation of the Genetics of Hematologic Diseases

Part of paid clinical trials in Memphis, Tennessee.

Sponsor
St. Jude Children's Research Hospital
Study ID
NCT02720679
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Jun 17, 2016
Status verified
Jun 2026
Primary completion
Jul 31, 2040
Completion
Jul 31, 2050

Study Design

Enrollment
1,716 participants (estimated)

Arms

  • Arm: 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.

Primary Outcome Measure

Percent of participants who agree to participate [ Time Frame: Day 1, at enrollment ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
St. Jude Children's Research HospitalMemphisTennessee38105
Marcin Wlodarski, MD, PhD
[email protected]
888-226-4343
Marcin Wlodarski, MD, PhD (PRINCIPAL_INVESTIGATOR)

Find similar trials in Memphis, TN

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By research site
St. Jude Children's Research Hospital· Memphis, TN

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