RARE DISEASERESEARCH ATLAS
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ORPHA:963

Acromegaly

medium confidenceDisorder

Publications

24,055

98.4th percentile

Trials

115

Interventional, condition-specific

Researchers

1,210

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

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.

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.”

2/6 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

    24,055 matched papers (8,626 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    115 matched on ClinicalTrials.gov (7 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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

24,055

24,055 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=5449) is 41.

24,055 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

8,626 in the last 10 years · medium confidence · 98.4th percentile (publications denominator)

Phrase hits: 24,055 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,210

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
    Chiloiro S8 papers · 2026

    School of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy. sabrina.chiloiro@unicatt.it.

    Papers in Europe PMC
  2. 02
    Biagetti B7 papers · 2026

    Endocrinology & Nutrition Department, Hospital Universitario Vall de Hebrón, CIBERER U747 (ISCIII), Barcelona, Spain.

    Papers in Europe PMC
  3. 03
    Bianchi A7 papers · 2026

    School of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.

    Papers in Europe PMC
  4. 04
    De Marinis L7 papers · 2026

    School of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.

    Papers in Europe PMC
  5. 05
    Giampietro A7 papers · 2026

    School of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Pontecorvi A7 papers · 2026

    School of Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Araujo-Castro M6 papers · 2026

    Endocrinology & Nutrition Department, Hospital Universitario Ramón y Cajal, Spain & Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Fleseriu M6 papers · 2026

    Departments of Medicine (Division of Endocrinology, Diabetes and Clinical Nutrition) and Neurological Surgery, Pituitary Center, Oregon Health & Science University, 3303 SW Bond Ave, Portland, OR, 97239, USA. fleseriu@ohsu.edu.

    Papers in Europe PMC
  9. 09
    Giustina A6 papers · 2026

    Institute of Endocrine and Metabolic Sciences, Università Vita-Salute San Raffaele, IRCCS Ospedale San Raffaele, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Marazuela M6 papers · 2026

    Department of Endocrinology and Nutrition, La Princesa University Hospital, 28006 Madrid, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

115

interventional trials for this specific condition

115 interventional trials matched this specific condition name; 7 currently recruiting in our sample.

Data as of 27 July 2026

115 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.6th percentile).

medium confidence · 98.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

83 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Acromegaly"

Run this search on Europe PMC

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

"Acromegaly"

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: 115 interventional · 83 observational · 1 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T16:01:32.899Z