ORPHA:723223
Extrapulmonary non-tuberculous mycobacterial infection
Also known as: Atypical mycobacterial infection, extrapulmonary · Non-tuberculous mycobacterial extrapulmonary disease
Publications
3
Trials
0
Interventional, condition-specific
Researchers
10
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
How rare: How common this is has not been clearly measured.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3 matched papers (1 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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 2026-07-27
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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
3
3 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
3 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).
1 in the last 10 years · low confidence
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
10
Distinct author names in 3 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Aboud S1 paper · 2012Papers in Europe PMC
- 02Aliano D1 paper · 2020
From the School of Medicine, University of Queensland, Brisbane, Australia.
Papers in Europe PMC - 03Fawzi WW1 paper · 2012Papers in Europe PMC
- 04Guerino C1 paper · 2012Papers in Europe PMC
- 05Hawkins C1 paper · 2012Papers in Europe PMC
- 06Isanaka S1 paper · 2012
Departments of Nutrition, Harvard School of Public Health, Boston, Massachusetts 02115, USA. sisanaka@hsph.harvard.edu
Papers in Europe PMC - 07Mugusi F1 paper · 2012Papers in Europe PMC
- 08Okuma J1 paper · 2012Papers in Europe PMC
- 09Spiegelman D1 paper · 2012Papers in Europe PMC
- 10Thomson R1 paper · 2020
Gallipoli Medical Research Institute, University of Queensland, Brisbane, Australia.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 9 September 2026 · last trial check 9 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 8 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · dropped 0 · fetched 2026-07-27
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 (7)
- ctis·2025-523869-22-00·Authorised, recruiting·A Phase III, multi-center, open-label, randomised, controlled trial of intravenous obrixtamig in combination with carboplatin and etoposide vs. carboplatin and etoposide as first-line therapy in DLL3-positive patients with unresectable locally advanced or metastatic extrapulmonary neuroendocrine carcinomas.
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-519983-42-00·Authorised, ongoing·Safety of Rifampicin at High Dose for the Treatment of Adult Subjects with Complex Drug Susceptible Pulmonary and Extrapulmonary Tuberculosis
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-507590-18-00·Authorised, ongoing·A Long-term Multicenter Open-label Study to Evaluate the Long-term Safety and Durability of Effect of XTMAB-16 in Patients With Pulmonary Sarcoidosis With or Without Extra pulmonary Involvement
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-516101-23-00·Authorised, ongoing·QUIDOSE. Randomized controlled trial testing the efficacy of hydroxychloroquine combined with low dose corticosteroid therapy in pulmonary sarcoidosis.
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2022-502877-41-01·Authorised, ongoing·A seamless, phase 1b/2 multiple ascending dose/proof of concept study of XTMAB-16 in patients with pulmonary sarcoidosis with or without extrapulmonary manifestations
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-505078-13-00·Authorised, ongoing·AGNOSTIC THERAPY IN A PHASE II, MULTICENTER, SINGLE-ARM STUDY IN FIRST-LINE TREATMENT OF DURVALUMAB (MEDI 4736) IN ASSOCIATION WITH CARBOPLATIN OR CISPLATIN AND ETOPOSIDE IN PATIENTS AFFECTED BY EXTENSIVE STAGE - EXTRAPULMONARY SMALL CELL CARCINOMA (EPSCC) – DURVASCC TRIAL
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2022-502155-65-00·Authorised, ongoing·HydroxyChloroquine as steroid-sparing Agent in Extra-pulmonary SARcoidosis. A multicenter, prospective, placebo-controlled, randomized trial. CAESAR
Uncertain — At least one provider returned uncertain or parent-category.
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 Extrapulmonary non-tuberculous mycobacterial infection — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
"Extrapulmonary non-tuberculous mycobacterial infection" OR "Atypical mycobacterial infection, extrapulmonary" OR "Non-tuberculous mycobacterial extrapulmonary disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Extrapulmonary non-tuberculous mycobacterial infection" OR "Atypical mycobacterial infection, extrapulmonary" OR "Non-tuberculous mycobacterial extrapulmonary disease"
Study-type breakdown: 0 interventional · 0 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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-26T01:45:58.302Z