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Protocol No. UW16124

Principal Investigator Hofmann, Inga

Phase N/A

Age Group Both

Scope National

Sponsor Type Institutional

Title Pediatric myelodysplastic syndrome and bone marrow failure disorder patient registry and tissue repository

Objective The goal of this project is to learn more about a disorder called Myelodysplastic Syndrome (MDS), a form of a bone marrow failure (BMF) disorder, a myeloproliferative neoplasm (MPN) or MDS/MPN and their subtypes, including what genetic factors may be involved with these disorders. We are also interested in tracking the outcomes from different treatments that individuals receive from their doctors. We also will be creating a data and sample repository, which will be available to many investigators interested in these disorders.

Treatment Currently, researchers and doctors know some of the genetic changes that can cause disease, but they do not know all of the genetic changes that can cause disease. Therefore, we would like to study the genetic material from you. By combining this information with information from your medical records, it may be possible to identify the genetic changes that are associated with your particular type of disease. We will perform this same process with hundreds of other people who have agreed to participate in this research project. Since we also will combine genetic information with information from medical records, such as different people s responses to treatments, this project could lead to more knowledge about why certain people respond differently to a treatment.

Description The study does not concern the treatment of you/your child s disease and therefore does not include a therapeutic trial (administration of experimental therapies). This research study only concerns the diagnosis and course of your/your child s disease and future laboratory research to learn more about MDS, BMF disorders, MPN, and MDS/MPN. As part of this study, we will ask you to provide samples and medical/family history information. In addition to collecting the blood and bone marrow samples that are needed to make a clinical diagnosis, we are also interested in taking extra blood, bone marrow and/or other tissue samples (such as urine samples, buccal swabs, and/or skin biopsy) for research so we can learn more about those disorders. When possible, we will collect these samples at the same time that samples are already being obtained for medical purposes to avoid extra blood draws and procedures.

Key Eligibility
  • Suspected or known diagnosis of primary MDS, suspected or known diagnosis of secondary MDS secondary to bone marrow failure disorders or chemo- or radiation therapy, suspected or known diagnosis of Myeloproliferative Disorders such as Myelofibrosis, Essential Thrombocythemia or Polycythemia Vera
  • Suspected or known diagnosis of Myelodysplastic (MDS)/Myeloproliferative Disorder (MPD)
  • Suspected or known inherited bone marrow failure disorders such as Fanconi Anemia (FA), Dyskeratosis congenital (DC), Severe Congenital Neutropenia (SCN), Schwachmanb-Diamond Syndrome (SDS), Diamond-Blackfan Anemia (DBA), or Bone marrow failure, NOD
  • Acquired Severe Aplastic Anemia (SAA) or Very Severe Aplastic Anemia (VSAA)
  • Age less than 35 years
  • Patients with translocation characteristic of de novo AML are ineligible
  • Patients with myeloid leukemia of Down Syndrome are ineligible
  • Patients with known acute lymphoid or myeloid leukemia (NOT arising out of a background of MDS or BMF) are ineligible
  • Patients with known chronic myeloid leukemia (CML) are ineligible

Applicable Disease Sites Hematologic cancers, other

Status Open

Participating Institutions UW Hospital and Clinics