Research Feasibility Form | The National MDS Study

Thank you for your interest in obtaining data from the NHLBI National Myelodysplastic Syndromes (MDS) Natural History Study. Complete and submit the online form below with your research request details and the DCC will be in contact over email regarding the next steps in the process.

Please contact mdscontact@emmes.com if you have any questions.

I. Investigator Contact Information

Investigator Name *

Investigator Institution *

Collaborating Institutions (if applicable)

Investigator Email *

Investigator Phone Number

II. Research Details

Title of Proposed Research *

Description of Research *

Brief description of proposed research including key research question(s) (1500 characters). If applicable, please specify MDS Inventory Browser Query ID.

Query Bookmarks

Copy and paste all applicable bookmark IDs you may have generated from the Inventory Browser which highlight your cohort of interest and display the availability of resources to support your research proposal (e.g., 66e1076b3fddafa94c2323ca5h323xx)

Bookmark #1

Bookmark #2

Bookmark #3

Bookmark #4

Bookmark #5

Additional Data or Patients

Do you have access or planning to use additional data or patients beyond the MDS study that would strengthen your ability to address your research questions?

Yes

No

Specify If "Yes", please specify:

III. Data Request Details

A. Study Population (check all that apply):

Diagnostic Category

At-risk for MDS (cases with dysplasia, clonal abnormality by conventional karyotype, or selected genetic mutations but not yet meeting criteria for MDS – see protocol for details)

ICUS

MDS/MPN

MDS

AML <30% Blasts

AML ≥30% Blasts (Cross-sectional study cohort)

Other Malignancy (Cross-sectional study cohort)

All Others Screened (cases not classified in above groups, not AML or other malignancy; Cross-sectional study cohort)

IPSS-R Risk Categories

Very Low/Low

Intermediate

High/Very High

Disposition

Race

Racial Minority

White

Not Reported / Unknown

Gender

Male

Female

Ethnicity

Hispanic or Latino

Not Hispanic or Latino

Not Reported / Unknown

Age

B. Data / Outcomes Requested (check all that apply):

Phenotypic / Clinical Data

Diagnostic Information

Demographics

Disposition / Study Endpoints

Medical History (Charlson Comorbidity Index, therapy-related disease status, disease-modifying therapy status, prior history of cancer, family history of cancer, history of smoking, history of alcohol use, prior hematologic disorder, environmental exposure, Covid-19 testing and outcomes)

Quality of Life (QUALMS, FACT-G, PROMIS Fatigue Short Form 7a, EQ-5D-5L, VES-13)

Laboratory Data Availability

Laboratory assessments, Blood (WBC counts, absolute neutrophile count, lymphocyte count, % lymphocytes, monocyte count, hemoglobin level, basophil count, eosinophil count, granulocyte count, % blasts, % dysplastic cells)

Bone marrow assessments (Differential cell counts, M:E Ratio, Cellularity)

Bone marrow slide images (H&E and Wright stain)

Cytogenetics (karyotype, FISH)

Targeted Exon Sequencing Data

SNP/INDEL Variant Identification (96 Gene Targeted Exon Sequencing Panel)

Sample DNA from bone marrow samples collected from participants at baseline is hybridized with a custom xGen Predesigned Gene Capture Pool (IDT) that spans target regions across 96 genes (mds_gene_panel_annotations.csv [click here]). The sequencing is done using Illumina NovaSeq 6000 (Paired End 150bp) instrument targeting >600X mean depth for each sample. All sequencing runs were completed according to the manufacturer’s recommendations (Illumina Inc, San Diego, CA).

Variants in the 96 gene panel are initially assigned programmatically as "Confidence Level 2 (Programmatic Curated: White Lists & Customized Rules)" or "Confidence Level 3 (Programmatic Curated: Rare Missense)". Variants belonging to genes that were manually curated (53 total noted below except for those in the non-manually curated group) go through a separate manual review conducted by a study review team to determine if variants have enough support be reassigned to the "Confidence level 1 (Manually Curated)" variant confidence level. Confidence Level 1 are considered likely disease-causing variants (somatic and germline) based on the study team's review.

Laboratory Data Outcomes - Variant Identification

No variants detected

Variant detected

Laboratory Data Outcomes - Variants

Confidence Level 1 (Manually Curated - highest level of confidence, likely disease-causing variants)

Confidence Level 2 (White Lists & Customized Rules)

Confidence Level 3 (Programmatic Curated: Rare Missense)

Laboratory Data Outcomes - Gene Category

Any gene (96 genes)

Activated signaling genes (BRAF, CBL, CSF3R, FLT3, GNAS, GNB1, JAK2, KIT, KRAS, MPL, NF1, NRAS, PTPN11, SH2B3, STAT3)

Cohesin genes (RAD21, SMC1A, SMC3, STAG2)

Epigenetic modifier genes (ASXL1, ATRX, BCOR, BCORL1, DNMT3A, EZH2, IDH1, IDH2, KMT2A, TET2)

Spliceosome genes (PRPF8, SF3B1, SRSF2, U2AF1, ZRSR2)

Transcription factor genes (CEBPA, ETV6, GATA2, RUNX1, STAT5B, TP53, WT1)

Other manually curated genes (CALR, CUX1, DDX41, ETNK1, MYD88, NPM1, PHF6, PPM1D, SAMD9, SAMD9L, SBDS, SETBP1)

Non-manually curated genes (ABL1, ALAS2, ANKRD26, BRCA1, BRCA2, BRCC3, BRIP1, CBLB, CBLC, CDKN2A, DKC1, DNAJC21, DNMT3B, EFL1 (aka EFTUD1), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBXW7, GATA1, HRAS, IKZF1, IRF1, JAK3, KDM6A, LUC7L2, NOTCH1, PALB2, PDGFRA, PTEN, RBBP6, RTEL1, SLX4, SRP72, TERC, TERT, U2AF2)

Variant Allele Frequency (VAF) Variant Allele Frequency (VAF):

Allele Depth Allele Depth:

Variant Consequence Variant Consequence:

Laboratory Data Outcomes - Cytopenia

Cytopenia

Other Characteristics or Outcomes

Other study population characteristics or outcomes of interest not otherwise specified (e.g., demographic groups, comorbidities, etc.) (250 characters):

C. Requested Specimens (check all that apply):

Specimen Source

Bone Marrow

Peripheral Blood

Buccal Cells

Eyebrow Hair

Specimen Type

DNA (All specimen sources)

RNA (Bone Marrow, Peripheral Blood)

Serum (Peripheral Blood)

Plasma (Bone Marrow)

Viable mononuclear cells (Bone Marrow, Peripheral Blood)

Cell Pellets (Bone Marrow)

Timepoint

Baseline Only

Follow-Up Only

Baseline and Follow-Up

Other Specimen Types / Sources

Other study specimen types or specimen sources of interest not otherwise specified (250 characters):

Upon receipt of the Research Feasibility Form, the MDS Study Data Coordinating Center will review the submission typically within 14 days of receipt to determine the overall feasibility of the research. Investigators with approved Research Feasibility Forms will be invited to submit a Research Proposal.