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ORPHA:411703

Pulmonary non-tuberculous mycobacterial infection

high confidenceDisorder

Also known as: Non-tuberculous mycobacterial lung disease

Publications

580

81.2th percentile

Trials

8

Interventional, condition-specific

Researchers

1,083

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including Mycobacterium avium complex, Mycobacterium kansasii, or Mycobacterium xenopi, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Nontuberculous Mycobacterial Lung Disease · non-tuberculous mycobacterial lung disease

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

    580 matched papers (412 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. Bronchiectasis; Pulmonary opacity; Chest pain) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    5 EMA designations (none yet with FDA orphan-indication approval) — e.g. omadacycline Source

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (3 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)

21

Associated phenotypes · MONDO:0018469

  • Bronchiectasis
  • Pulmonary opacity
  • Chest pain
  • Cough
  • Asthenia

Showing 5 of 21 — 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)

5

Designations · no FDA orphan-indication approval yet

  • EMA omadacyclineTreatment of nontuberculous mycobacterial lung disease · 25/07/2024 · PositiveEMA designation
  • EMA clofazimineTreatment of nontuberculous mycobacterial lung disease · 21/08/2019 · PositiveEMA designation
  • EMA EpetraboroleTreatment of nontuberculous mycobacterial lung disease · 10/08/2022 · PositiveEMA designation
  • EMA clarithromycin;clofazimine;rifabutinTreatment of nontuberculous mycobacterial lung disease · 10/08/2022 · PositiveEMA designation
  • EMA amikacin sulfate (Arikayce liposomal)Treatment of nontuberculous mycobacterial lung disease · 08/04/2014 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0018469

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

580

580 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

580 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).

412 in the last 10 years · high confidence · 81.2th percentile (publications denominator)

Phrase hits: 580 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,083

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
    Shu CC17 papers · 2026

    College of Medicine, National Taiwan University, Taipei, Taiwan.

    Papers in Europe PMC
  2. 02
    Pan SW12 papers · 2026

    Department of Chest Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.

    Papers in Europe PMC
  3. 03
    Hassan M10 papers · 2026

    Insmed Incorporated, Bridgewater, NJ, USA.

    Papers in Europe PMC
  4. 04
    Wang P9 papers · 2026

    Insmed Incorporated, Bridgewater, New Jersey

    Papers in Europe PMC
  5. 05
    Chatterjee A8 papers · 2024

    Insmed Incorporated, Bridgewater, NJ, USA.

    Papers in Europe PMC
  6. 06
    Obradovic M8 papers · 2025

    Insmed Inc, Bridgewater, New Jersey, USA.

    Papers in Europe PMC
  7. 07
    Hasegawa N7 papers · 2026

    Center for Infectious Diseases and Infection Control, Keio University School of Medicine, Japan. Electronic address: n-hasegawa@z8.keio.jp.

    Papers in Europe PMC
  8. 08
    Li Y7 papers · 2026

    Hubei Three Gorges Polytechnic, Yichang, China.

    Papers in Europe PMC
  9. 09
    Wang PH7 papers · 2026

    Division of Pulmonology, Department of Internal Medicine, Far Eastern Memorial Hospital, New Taipei City, Taiwan.

    Papers in Europe PMC
  10. 10
    Yu CJ7 papers · 2026

    Department of Internal Medicine, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

high confidence · 91.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

11 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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)

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 Pulmonary non-tuberculous mycobacterial infection — 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.

"Pulmonary non-tuberculous mycobacterial infection" OR "Non-tuberculous mycobacterial lung disease" OR "Nontuberculous Mycobacterial Lung Disease"

Run this search on Europe PMC

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

"Pulmonary non-tuberculous mycobacterial infection" OR "Non-tuberculous mycobacterial lung disease" OR "Nontuberculous Mycobacterial Lung Disease"

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: 8 interventional · 11 observational · 0 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

Ingested 2026-07-27T15:41:55.462Z