This study is currently recruiting participants.
National Heart, Lung and Blood Institute (NHLBI)
Type: Enrolling by Invitation Gender: Male & Female Min Age: 18 Years Max Age: 99 Years
Referral Letter Required
Myelodysplastic Syndrome; Natural History
Bone Marrow Failure; Myelodysplastic Syndrome
National Heart, Lung, and Blood Institute
Many immune diseases have gene mutations (changes) in T cells. Bone marrow failure syndromes may also have T cell changes. Researchers want to do whole exome sequencing (WES) on past NIH study participants biospecimens to learn more. They may also do targeted sequencing. WES sequencing will show the exact order of the base pairs in the participant s blood and tissue cells. The results will be linked to the participant s medical records to find out if these changes are associated with how well a person responds to treatment and their overall outcomes.
To find out if the development of certain blood diseases is due to gene changes in T cells.
People with lower risk myelodysplastic syndrome who took part in NIH study 05-H-0206, 09-H-0199, or 04-H-0012.
Participants will not have study visits. They will be asked to allow their previously collected blood and/or tissue samples to be used. DNA will be taken from their samples for WES. The results of the WES will be linked to their medical records.
Data that can be used to identify participants will be collected. These data include, for example, name, age, and gender. These data will not be used with their samples. Instead, their samples and data will be labeled with a code.
Genes not related to the participant s disease will be reviewed for changes.
Participants will be contacted if certain gene changes are found. They will be asked to give a blood sample. They may have gene counseling.
Participation will end when participants samples have been obtained.
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ELIGIBILITY CRITERIA: Existing biospecimens and data will be used from research participants with lower risk myelodysplastic syndrome previously enrolled onto protocols 05-H-0206, 09-H-0199, and 04-H-0012
Existing biospecimens and data will be used from research participants with lower risk myelodysplastic syndrome previously enrolled onto protocols 05-H-0206, 09-H-0199, and 04-H-0012
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