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ORPHA:379

Chronic granulomatous disease

medium confidenceDisorder

Also known as: CGD · Chronic septic granulomatosis

Publications

13,078

95th percentile

Trials

56

Interventional, condition-specific

Researchers

1,490

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

chronic septic granulomatosis

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

    13,078 matched papers (5,550 in last 10 years) Source

  3. Phenotype characterisedPresent

    172 HPO annotations (e.g. Discoid lupus rash; Peritonitis; Recurrent Escherichia coli infection) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPartial

    1 FDA · 2 EMA designations (none yet with FDA orphan-indication approval) — e.g. autologous CD34+ cells transduced with a lentiviral vector encoding the human NCF1 gene Source

  6. Interventional trialPresent

    56 matched on ClinicalTrials.gov (12 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)

172

Associated phenotypes · MONDO:0018305

  • Discoid lupus rash
  • Peritonitis
  • Recurrent Escherichia coli infection
  • Lung abscess
  • Recurrent Serratia infection

Showing 5 of 172 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

3

Designations · no FDA orphan-indication approval yet

  • EMA autologous CD34+ cells transduced with a lentiviral vector encoding the human NCF1 geneTreatment of chronic granulomatous disease · 13/01/2023 · PositiveEMA designation
  • FDA Interferon gamma 1-b (Actimmune)Chronic granulomatous disease · 1988-09-30
  • EMA autologous CD34+ cells transduced with retroviral vector containing the human gp91 (phox) geneTreatment of chronic granulomatous disease · 13/07/2006 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

26

Drugs / clinical candidates · MONDO_0018305

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

13,078

13,078 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.

13,078 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).

5,550 in the last 10 years · medium confidence · 95th percentile (publications denominator)

Phrase hits: 13,078 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,490

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
    Leiding JW5 papers · 2026

    Division of Allergy and Immunology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.

    Papers in Europe PMC
  2. 02
    Blancas-Galicia L4 papers · 2025

    Laboratorio de Inmunodeficiencias, Instituto Nacional de Pediatría, Ciudad de México, México.

    Papers in Europe PMC
  3. 03
    Bougnoux ME4 papers · 2026

    Paris Cité University, Paris, France.

    Papers in Europe PMC
  4. 04
    Holland SM4 papers · 2026

    Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD, United States.

    Papers in Europe PMC
  5. 05
    Lanternier F4 papers · 2026

    Paris Cité University, Paris, France. fanny.lanternier@aphp.fr.

    Papers in Europe PMC
  6. 06
    Malech HL4 papers · 2026

    Genetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD, United States.

    Papers in Europe PMC
  7. 07
    Peng J4 papers · 2026

    Department of Toxicology and Cancer Biology, University of Kentucky, Lexington, Kentucky, USA.

    Papers in Europe PMC
  8. 08
    Wang X4 papers · 2026

    RNA Molecular Biology Laboratory, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland.

    Papers in Europe PMC
  9. 09
    Aggarwal R3 papers · 2026

    Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

    Papers in Europe PMC
  10. 10
    Arai K3 papers · 2026

    Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

56

interventional trials for this specific condition

56 interventional trials matched this specific condition name; 12 currently recruiting in our sample.

Data as of 11 September 2026

56 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.4th percentile).

medium confidence · 97.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

17 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 15 · after dedupe 15 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 14 · 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 (14)

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 Chronic granulomatous disease — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 1.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Chronic granulomatous disease" OR "Chronic septic granulomatosis"

Run this search on Europe PMC

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

"Chronic granulomatous disease" OR "Chronic septic granulomatosis"

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: 56 interventional · 17 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

Synonyms dropped by stoplist: CGD

Confidence reasoning

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

Ingested 2026-07-26T13:38:22.704Z