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ORPHA:33226

Waldenström macroglobulinemia

low confidenceDisorder

Publications

10,588

Trials

290

Interventional, condition-specific

Researchers

1,197

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare indolent B-cell non-Hodgkin lymphoma, characterized by the infiltration of monoclonal lymphoplasmacytic cells in the bone marrow and the production of serum immunoglobulin M (IgM) monoclonal protein.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

Waldenstrom macroglobulinemia · Waldenstrom's macroglobulinemia · Waldenström Macroglobulinemia

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    10,588 matched papers (4,077 in last 10 years) Source

  3. Phenotype characterisedPresent

    51 HPO annotations (e.g. Leukemia; Polyclonal elevation of circulating IgM concentration; Lymphoma) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    7 FDA designations (5 FDA orphan-indication approvals) — e.g. Zanubrutinib Source

  6. Interventional trialPresent

    290 matched on ClinicalTrials.gov (36 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

51

Associated phenotypes · MONDO:0100280

  • Leukemia
  • Polyclonal elevation of circulating IgM concentration
  • Lymphoma
  • Polyneuropathy
  • Impaired phytohemagglutinin-induced T lymphocyte transformation

Showing 5 of 51 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

7

Designations · 5 with FDA orphan-indication approval

  • FDA ZanubrutinibWaldenstrom's Macroglobulinemia · 2016-06-29 · Not FDA Approved for Orphan Indication
  • FDA acalabrutinibWaldenstrom Macroglobulinemia · 2015-10-22 · Not FDA Approved for Orphan Indication
  • FDA oprozomibWaldenstrom's Macroglobulinemia · 2014-08-25 · Not FDA Approved for Orphan Indication
  • FDA idelalisiblymphoplasmacytic lymphoma Lymphoplasmacytic Lymphoma · 2013-09-26 · Not FDA Approved for Orphan Indication
  • FDA everolimusWaldenstrom Macroglobulinemia Lymphoplasmacytic Lymphoma · 2010-09-16 · Not FDA Approved for Orphan Indication
  • FDA bendamustine hydrochloride (Treanda)follicular lymphoma lymphoplasmacytic lymphoma Mucosa-associated lymphoma Splenic marginal zone lymphoma Nodal Marginal Zone Lymphoma Extranodal marginal zone B-cell lymphoma · 2013-11-26
  • FDA ibrutinib (Imbruvica)Waldenstrom's Macroglobulinemia · 2013-10-15

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

89

Drugs / clinical candidates · MONDO_0100280

CTD chemicals (MyDisease.info)

10 associated chemicals · 64 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Bortezomib · therapeutic
  • Cladribine · therapeutic
  • Dexamethasone · therapeutic
  • Doxorubicin · therapeutic
  • fludarabine · therapeutic
  • Resveratrol · therapeutic
  • Thalidomide · therapeutic
  • Chlorambucil · marker/mechanism
  • Diatrizoate Meglumine · marker/mechanism
  • Prednisone · marker/mechanism

Pathways: NF-kappa B signaling pathway; Toll-like receptor signaling pathway; NOD-like receptor signaling pathway; Salmonella infection; Pertussis; Legionellosis; Leishmaniasis; Chagas disease (American trypanosomiasis)

MyDisease.info · MONDO:0100280

Literature

Is anyone studying this?

10,588

10,588 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,588 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,077 in the last 10 years · low confidence

Phrase hits: 10,588 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,197

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Castillo JJ26 papers · 2026

    Bing Center for Waldenström's Macroglobulinemia, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.

    Papers in Europe PMC
  2. 02
    Treon SP23 papers · 2026

    Shayna Sarosiek, MD, and Steven P. Treon, MD, PhD, Bing Center for Waldenström Macroglobulinemia, Dana-Farber Cancer Institute, Boston, MA, Department of Medicine, Harvard Medical School, Boston, MA; Andrew R. Branagan, MD, PhD, Department of Medicine, Harvard Medical School, Boston, MA, Center for Multiple Myeloma, Massachusetts General Hospital, Boston, MA; and Jorge J. Castillo, MD, Bing Center for Waldenström Macroglobulinemia, Dana-Farber Cancer Institute, Boston, MA, Department of Medicine, Harvard Medical School, Boston, MA.

    Papers in Europe PMC
  3. 03
    Sarosiek S19 papers · 2026

    Bing Center for Waldenström Macroglobulinemia, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  4. 04
    Guijosa A14 papers · 2026

    Bing Center for Waldenström Macroglobulinemia, Dana-Farber Cancer Institute, Boston, MA.

    Papers in Europe PMC
  5. 05
    Hunter ZR13 papers · 2026

    Dana Farber Cancer Institute, Boston, Massachusetts, USA.

    Papers in Europe PMC
  6. 06
    Patterson CJ12 papers · 2026

    Bing Center for Waldenström Macroglobulinemia, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.

    Papers in Europe PMC
  7. 07
    Kastritis E11 papers · 2026

    Department of Clinical Therapeutics, Faculty of Medicine, National and Kapodistrian University of Athens, 80 Vassilisis Sofias Avenue, Athens 11527, Greece.

    Papers in Europe PMC
  8. 08
    Dimopoulos MA10 papers · 2026

    Department of Clinical Therapeutics, National and Kapodistrian University of Athens, School of Medicine, Alexandra Hospital, Athens, Greece.

    Papers in Europe PMC
  9. 09
    Tsakmaklis N10 papers · 2026

    Dana Farber Cancer Institute, Boston, Massachusetts, USA.

    Papers in Europe PMC
  10. 10
    Branagan AR9 papers · 2026

    Shayna Sarosiek, MD, and Steven P. Treon, MD, PhD, Bing Center for Waldenström Macroglobulinemia, Dana-Farber Cancer Institute, Boston, MA, Department of Medicine, Harvard Medical School, Boston, MA; Andrew R. Branagan, MD, PhD, Department of Medicine, Harvard Medical School, Boston, MA, Center for Multiple Myeloma, Massachusetts General Hospital, Boston, MA; and Jorge J. Castillo, MD, Bing Center for Waldenström Macroglobulinemia, Dana-Farber Cancer Institute, Boston, MA, Department of Medicine, Harvard Medical School, Boston, MA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

290

interventional trials for this specific condition

290 interventional trials matched this specific condition name; 36 currently recruiting in our sample.

Data as of 11 September 2026

290 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.5th percentile).

low confidence · 99.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

290 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

22 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 19 · after dedupe 19 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (19)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Waldenström macroglobulinemia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Waldenström macroglobulinemia" OR "Waldenstrom macroglobulinemia" OR "Waldenstrom's macroglobulinemia"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Waldenström macroglobulinemia" OR "Waldenstrom macroglobulinemia" OR "Waldenstrom's macroglobulinemia"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 290 interventional · 22 observational · 2 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (10588) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T23:33:37.929Z