Investigation of the Genetics of Hematologic Diseases
| Status: | Recruiting |
|---|---|
| Conditions: | Anemia, Anemia, Anemia, Hematology, Hematology, Hematology, Hematology, Hematology, Hematology, Hematology |
| Therapuetic Areas: | Hematology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 1/3/2019 |
| Start Date: | June 17, 2016 |
| End Date: | August 2026 |
| Contact: | Marcin Wlodarski, MD |
| Email: | referralinfo@stjude.org |
| Phone: | 866-278-5833 |
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 and bone marrow 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 order to conduct genomic and functional studies as outlined in the
secondary objectives.
Secondary Objectives:
Utilizing the biorepository, investigators aim to:
- Identify novel mutations that associate with disease status in individuals with
unexplained non-malignant blood diseases.
- Identify modifier genes in individuals with defined monogenic non-malignant blood
diseases.
- Identify genetic variants associated with treatment outcomes and toxicities for
individuals with non-malignant blood disease.
- Use transcriptomics, proteomics and metabolomics to investigate biomarkers for sickle
cell disease (SCD) progression, paint events and the long-term cellular and molecular
effects of hydroxyurea therapy.
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 and bone marrow 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 order to conduct genomic and functional studies as outlined in the
secondary objectives.
Secondary Objectives:
Utilizing the biorepository, investigators aim to:
- Identify novel mutations that associate with disease status in individuals with
unexplained non-malignant blood diseases.
- Identify modifier genes in individuals with defined monogenic non-malignant blood
diseases.
- Identify genetic variants associated with treatment outcomes and toxicities for
individuals with non-malignant blood disease.
- Use transcriptomics, proteomics and metabolomics to investigate biomarkers for sickle
cell disease (SCD) progression, paint events and the long-term cellular and molecular
effects of hydroxyurea therapy.
Participants will be individuals (proband) receiving therapy or expert consultation regarding
a non-malignant hematologic disorder. We propose to use genomics, trancriptomics, 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.
a non-malignant hematologic disorder. We propose to use genomics, trancriptomics, 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.
Inclusion Criteria:
- An individual (proband) receiving therapy or expert consultation regarding a
non-malignant hematologic disorder.
- A biologically-related individual to the identified proband to include: first, second
or third degree relatives.
Exclusion Criteria:
We found this trial at
1
site
262 Danny Thomas Pl
Memphis, Tennessee 38105
Memphis, Tennessee 38105
(901) 495-3300
Principal Investigator: Marcin Wlodarski, MD
Phone: 866-278-5833
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