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ORPHA:67038

B-cell chronic lymphocytic leukemia

medium confidenceDisorder

Also known as: B-CLL · B-cell chronic lymphoid leukemia · CLL · CLL/SLL · Chronic lymphocytic leukemia · Small lymphocytic lymphoma

Publications

80,503

99.4th percentile

Trials

1,363

Interventional, condition-specific

Researchers

1,471

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (24)

B cell CLL · B cell chronic lymphocytic leukaemia · B cell chronic lymphocytic leukemia · B cell lymphocytic leukaemia · B cell lymphocytic leukemia · B-cell CLL · B-cell chronic lymphogenous leukaemia · B-cell chronic lymphogenous leukemia · B-cell chronic lymphoid leukaemia · B-cell lymphocytic leukaemia · B-cell lymphocytic leukemia · BCLL · Chronic Lymphocytic Leukemia · chronic B-cell lymphocytic leukaemia · chronic B-cell lymphocytic leukemia · chronic lymphatic leukemia · chronic lymphocytic leukaemia (CLL) · chronic lymphocytic leukemia · chronic lymphocytic leukemia (CLL) · chronic lymphogenous leukaemia · chronic lymphogenous leukemia · hematopoeitic - chronic lymphocytic leukaemia (CLL) · hematopoeitic - chronic lymphocytic leukemia (CLL) · lymphoplasmacytic leukemia

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.”

5/6 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

    80,503 matched papers (42,381 in last 10 years) Source

  3. Phenotype characterisedPresent

    2 HPO annotations (e.g. Chronic lymphatic leukemia; Cellular immunodeficiency) Source

  4. Animal modelPresent

    19 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    15 FDA · 2 EMA designations (15 FDA orphan-indication approvals) — e.g. Zanubrutinib Source

  6. Interventional trialPresent

    1,363 matched on ClinicalTrials.gov (182 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)

2

Associated phenotypes · MONDO:0004948

  • Chronic lymphatic leukemia
  • Cellular immunodeficiency

Animal models (Monarch / Alliance)

19

Model associations linked to this Mondo ID

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)

17

Designations · 15 with FDA orphan-indication approval

  • FDA ZanubrutinibChronic Lymphocytic Leukemia · 2016-07-20 · Not FDA Approved for Orphan Indication
  • FDA brexucabtagene autoleucelChronic Lymphocytic Leukemia · 2016-04-20 · Not FDA Approved for Orphan Indication
  • FDA InecalcitolChronic Lymphocytic Leukemia · 2014-05-14 · Not FDA Approved for Orphan Indication
  • FDA entospletinibChronic Lymphocytic Leukemia · 2014-04-14 · Not FDA Approved for Orphan Indication
  • FDA TisagenlecleucelChronic Lymphocytic Leukemia · 2014-03-14 · Not FDA Approved for Orphan Indication
  • FDA ibrutinibChronic Lymphocytic Leukemia · 2012-03-27 · Not FDA Approved for Orphan Indication
  • FDA idelalisibChronic Lymphocytic Leukemia · 2011-08-25 · Not FDA Approved for Orphan Indication
  • FDA dinaciclibChronic Lymphocytic Leukemia · 2011-08-25 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

358

Drugs / clinical candidates · MONDO_0004948

CTD chemicals (MyDisease.info)

36 associated chemicals · 411 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 15-deoxy-delta(12,14)-prostaglandin J2 · therapeutic
  • acadesine · therapeutic
  • alvocidib · therapeutic
  • Arsenic Trioxide · therapeutic
  • Bendamustine Hydrochloride · therapeutic
  • Bezafibrate · therapeutic
  • bryostatin 1 · therapeutic
  • Chlorambucil · therapeutic
  • Cladribine · therapeutic
  • Cyclophosphamide · therapeutic
  • Cytarabine · therapeutic
  • dimethylarsine · therapeutic

Pathways: Inositol phosphate metabolism; Arachidonic acid metabolism; One carbon pool by folate; Metabolic pathways; Carbon metabolism; EGFR tyrosine kinase inhibitor resistance; Endocrine resistance; Antifolate resistance

MyDisease.info · MONDO:0004948

Literature

Is anyone studying this?

80,503

80,503 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.

80,503 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).

42,381 in the last 10 years · medium confidence · 99.4th percentile (publications denominator)

Phrase hits: 80,494 · MeSH hits: 72

Open Europe PMC search

Who's working on it?

1,471

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
    Brown JR6 papers · 2026

    Dana-Farber Cancer Institute, Boston, MA.

    Papers in Europe PMC
  2. 02
    Ghia P6 papers · 2026

    Università Vita-Salute San Raffaele, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Qiu L6 papers · 2026

    Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, Tianjin, P.R. China.

    Papers in Europe PMC
  4. 04
    Wang Y6 papers · 2026

    Department of Hematology,The Fifth Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, China.

    Papers in Europe PMC
  5. 05
    Shadman M5 papers · 2026

    Fred Hutchinson Cancer Center, University of Washington, Seattle, WA, USA.

    Papers in Europe PMC
  6. 06
    Wierda WG5 papers · 2026

    Division of Cancer Medicine, Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX.

    Papers in Europe PMC
  7. 07
    Davids MS4 papers · 2026

    Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.

    Papers in Europe PMC
  8. 08
    Parikh SA4 papers · 2026

    Department of Medicine, Division of Hematology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  9. 09
    Robak T4 papers · 2026

    Department of Hematology, Medical University of Lodz, Lodz, Poland.

    Papers in Europe PMC
  10. 10
    Tam CS4 papers · 2026

    Department of Haematology, Alfred Hospital, Melbourne, VIC, Australia; Haematology, Monash University, Melbourne, VIC, Australia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1,363

interventional trials for this specific condition

1,363 interventional trials matched this specific condition name; 182 currently recruiting in our sample.

Data as of 11 September 2026

1,363 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.9th percentile).

medium confidence · 99.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1,363 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

189 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 30 · after dedupe 30 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 30 · dropped 0 · fetched 2026-07-30

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 (30)

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 B-cell chronic lymphocytic leukemia — 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.

"B-cell chronic lymphocytic leukemia" OR "B-CLL" OR "B-cell chronic lymphoid leukemia" OR "CLL/SLL" OR "Chronic lymphocytic leukemia" OR "Small lymphocytic lymphoma" OR "B cell CLL" OR "B cell chronic lymphocytic leukaemia" OR "B cell chronic lymphocytic leukemia" OR "B cell lymphocytic leukaemia" OR "B cell lymphocytic leukemia" OR "B-cell CLL" OR "B-cell chronic lymphogenous leukaemia" OR "B-cell chronic lymphogenous leukemia" OR "B-cell chronic lymphoid leukaemia" OR "B-cell lymphocytic leukaemia" OR "B-cell lymphocytic leukemia" OR "chronic B-cell lymphocytic leukaemia" OR "chronic B-cell lymphocytic leukemia" OR "chronic lymphatic leukemia" OR "chronic lymphocytic leukaemia (CLL)" OR "chronic lymphocytic leukemia (CLL)" OR "chronic lymphogenous leukaemia" OR "chronic lymphogenous leukemia" OR "hematopoeitic - chronic lymphocytic leukaemia (CLL)" OR "hematopoeitic - chronic lymphocytic leukemia (CLL)" OR "lymphoplasmacytic leukemia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukemia, Lymphocytic, Chronic, B-Cell

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

"B-cell chronic lymphocytic leukemia" OR "B-CLL" OR "B-cell chronic lymphoid leukemia" OR "CLL/SLL" OR "Chronic lymphocytic leukemia" OR "Small lymphocytic lymphoma" OR "B cell CLL" OR "B cell chronic lymphocytic leukaemia" OR "B cell chronic lymphocytic leukemia" OR "B cell lymphocytic leukaemia" OR "B cell lymphocytic leukemia" OR "B-cell CLL" OR "B-cell chronic lymphogenous leukaemia" OR "B-cell chronic lymphogenous leukemia" OR "B-cell chronic lymphoid leukaemia" OR "B-cell lymphocytic leukaemia" OR "B-cell lymphocytic leukemia" OR "chronic B-cell lymphocytic leukaemia" OR "chronic B-cell lymphocytic leukemia" OR "chronic lymphatic leukemia" OR "chronic lymphocytic leukaemia (CLL)" OR "chronic lymphocytic leukemia (CLL)" OR "chronic lymphogenous leukaemia" OR "chronic lymphogenous leukemia" OR "hematopoeitic - chronic lymphocytic leukaemia (CLL)" OR "hematopoeitic - chronic lymphocytic leukemia (CLL)" OR "lymphoplasmacytic leukemia" OR "Leukemia, Lymphocytic, Chronic, B-Cell"

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

Study-type breakdown: 1363 interventional · 189 observational · 5 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CLL; BCLL

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T01:24:38.050Z